Chronic septic granulomatosis is another name for chronic granulomatous disease (CGD), a rare inherited immune deficiency where some white blood cells (phagocytes) cannot properly kill certain bacteria and fungi. Because of a defect in the NADPH oxidase enzyme system, these cells cannot make enough “reactive oxygen” chemicals that normally destroy germs. As a result, patients get repeated, sometimes severe infections and can develop “granulomas” (tight clusters of immune cells) in organs such as the lungs, liver, lymph nodes, gut and skin. Without good treatment, life expectancy and quality of life can be reduced, but with modern care many patients live much longer, more stable lives. [1]
Chronic septic granulomatosis is another name for chronic granulomatous disease (CGD). It is a rare, lifelong genetic problem of the immune system. In this disease, some white blood cells called phagocytes cannot kill germs properly. Because of this, people get many serious bacterial and fungal infections and form lumps of inflamed tissue called granulomas in different organs.
How does chronic septic granulomatosis affect the body?
In chronic septic granulomatosis, the basic problem is not the number of phagocytes, but their function. Because NADPH oxidase does not work properly, the cells cannot produce hydrogen peroxide and related chemicals necessary to kill specific bacteria and fungi. This leads to recurrent abscesses, pneumonia, bone infections, lymph node infections and sometimes inflammatory problems such as colitis or obstructed hollow organs due to granulomas. The disease is usually inherited in an X-linked or autosomal recessive pattern and often appears in childhood, but some people are diagnosed in adolescence or adulthood. [2]
In CGD, the main problem is a broken enzyme system inside phagocytes called NADPH oxidase. This enzyme normally makes special “reactive oxygen” chemicals that help white blood cells kill germs. When the enzyme does not work, the cells can swallow germs but cannot finish killing them, so infections keep coming back.
CGD usually starts in childhood, often before the age of five, but milder forms can appear later. Without treatment, children in the past often died young. Today, with better antibiotics, antifungal drugs and sometimes bone marrow or gene-based treatments, many people with CGD can live into adulthood and have much better quality of life.
Other names and types
Chronic septic granulomatosis has several other names in the medical literature. It is also called chronic granulomatous disease (CGD), chronic granulomatous disorder, Bridges–Good syndrome, Quie syndrome, and congenital dysphagocytosis. These names all describe the same basic condition: a long-lasting problem with granuloma formation and recurrent infections due to faulty phagocytes.
Doctors usually divide CGD into two main genetic types. The first and most common type is X-linked CGD, caused by changes (mutations) in the CYBB gene on the X chromosome, which makes the gp91phox part of the NADPH oxidase enzyme. This type mainly affects boys and is often more severe.
The second group is autosomal recessive CGD, caused by mutations in genes such as CYBA, NCF1, NCF2, NCF4 and CYBC1. In this pattern, both parents usually carry one faulty copy, and the child gets both faulty copies. These autosomal forms can be milder or more variable than the X-linked form, but they still cause serious infections and granulomas.
Causes
1. Defective NADPH oxidase enzyme in phagocytes
The root cause of chronic septic granulomatosis is a defect in the multi-protein NADPH oxidase enzyme in certain white blood cells. This enzyme normally makes reactive oxygen species that help kill swallowed bacteria and fungi. When it is absent or weak, the immune system cannot clear these germs properly.
2. Mutation in the CYBB gene (X-linked form)
Mutations in the CYBB gene on the X chromosome cause the X-linked form of CGD. This gene encodes the gp91phox subunit of NADPH oxidase. Faulty gp91phox stops the enzyme complex from working, so phagocytes cannot launch a normal “oxidative burst” to kill ingested microbes.
3. Mutation in the CYBA gene (p22phox defect)
In some patients, autosomal recessive mutations in CYBA damage the p22phox component of NADPH oxidase. Without functional p22phox, the whole enzyme complex becomes unstable, again leading to poor production of reactive oxygen and weak killing of germs.
4. Mutation in the NCF1 gene (p47phox defect)
Mutations in NCF1 affect the p47phox subunit, another essential part of the enzyme. People with this autosomal recessive form can have variable severity, but they still have recurrent infections and granulomas because their oxidative burst is reduced or absent.
5. Mutation in the NCF2 gene (p67phox defect)
Changes in NCF2 cause a defect in p67phox, which helps activate NADPH oxidase when the phagocyte meets a germ. If p67phox is abnormal, the enzyme cannot be properly switched on, so the cells fail to generate enough reactive oxygen species during infection.
6. Mutation in the NCF4 gene (p40phox defect)
Mutations in NCF4 alter p40phox, another regulatory subunit of NADPH oxidase. This can lead to milder but still important problems with oxidative killing. Patients may present later in life, sometimes with more inflammatory bowel disease-like symptoms along with infections.
7. Mutation in the CYBC1 gene (EROS deficiency)
The CYBC1 gene encodes a protein (sometimes called EROS) that helps stabilize the NADPH oxidase complex. Mutations in CYBC1 cause a newer recognized autosomal recessive CGD subtype. The result is the same pattern of recurrent infections and granulomas due to poor oxidase activity.
8. X-linked recessive inheritance from a carrier mother
In X-linked CGD, a boy inherits the faulty CYBB gene from his carrier mother. Because he has only one X chromosome, the single defective copy is enough to cause disease. This inheritance pattern explains why many affected families have multiple males with similar infections.
9. Autosomal recessive inheritance from two carrier parents
In autosomal recessive CGD, both parents usually carry one faulty copy of an NADPH oxidase gene. They are healthy, but their child may inherit both faulty copies and develop disease. This pattern is more common in families where parents are related (consanguineous marriages).
10. De novo (new) gene mutations
Sometimes a child with chronic septic granulomatosis is born to parents without the mutation. In these rare cases, the gene change can happen “de novo,” meaning it arises spontaneously in the egg, sperm, or early embryo. The effect on NADPH oxidase function is the same.
11. Mutations causing complete loss of enzyme activity (“0” mutations)
Some mutations stop the affected gene from making any working protein at all. These “0” mutations cause complete loss of that subunit, leading to very little or no oxidative burst. Patients with these changes often have more severe disease and earlier, life-threatening infections.
12. Mutations causing partial enzyme activity (“hypomorphic” mutations)
Other mutations allow some NADPH oxidase activity but not enough. These “hypomorphic” variants can cause milder or later-onset CGD, sometimes first appearing in adolescence or adulthood, but they still increase the risk of repeated infections and granulomatous inflammation.
13. Defective reactive oxygen species (ROS) production
Regardless of the exact gene, the shared cause is poor production of reactive oxygen species like superoxide and hydrogen peroxide. Without these chemicals, phagocytes cannot efficiently kill catalase-positive bacteria and fungi, so these microbes survive, spread and trigger granuloma formation.
14. Preferential targeting by catalase-positive bacteria and fungi
CGD patients are especially vulnerable to certain organisms, such as Staphylococcus aureus, Burkholderia cepacia, Serratia, Salmonella, mycobacteria and many molds. These germs break down hydrogen peroxide that might otherwise partly compensate for the enzyme defect, making the underlying NADPH problem more harmful.
15. Persistent and uncontrolled infections leading to granulomas
Because germs are not cleared well, infections tend to be long-lasting and deep. The immune system tries to contain these infections by forming granulomas, which are tight clusters of immune cells. These granulomas can block hollow organs such as intestines, bladder, or stomach and cause chronic symptoms.
16. Excessive inflammatory response and immune dysregulation
Many people with CGD develop excessive inflammation, even when no live germs are found. Their immune system overreacts and forms sterile granulomas in organs. This dysregulated inflammation is part of the disease mechanism and explains why some patients have inflammatory bowel disease or autoimmune features.
17. Consanguineous marriage increasing autosomal recessive forms
In regions where marriage between relatives is common, there is a higher chance that both parents carry the same rare NADPH oxidase gene mutation. This social and genetic pattern increases the number of autosomal recessive CGD cases in those populations.
18. Female carriers with skewed X-inactivation becoming symptomatic
Most female carriers of X-linked CGD are healthy, but in rare cases, X-inactivation (lyonization) is skewed so that most of their active X chromosomes carry the mutation. These women can then develop CGD-like infections and granulomas, effectively becoming mildly affected patients.
19. G6PD deficiency with very low NADPH mimicking CGD
A very rare situation is severe glucose-6-phosphate dehydrogenase (G6PD) deficiency, which lowers NADPH levels so much that phagocytes cannot make enough reactive oxygen. These patients may show CGD-like infection patterns, illustrating how problems in NADPH supply can cause a similar phenotype.
20. Combined effects of genetic defect and environmental exposure
Finally, the severity of chronic septic granulomatosis is caused by both the gene defect and the person’s environment. Poor access to medical care, high exposure to certain bacteria and fungi, and delayed diagnosis all allow infections and granulomas to build up, worsening the disease course.
Symptoms
1. Recurrent serious infections
The hallmark symptom is infections that keep coming back or do not heal well. These may involve lungs, skin, lymph nodes, liver, bones, or blood. Infections are often caused by a narrow group of bacteria and fungi and may require long courses of antibiotics or antifungals.
2. Pneumonia and lung problems
Many patients develop repeated episodes of pneumonia, with cough, breathlessness and chest pain. Granulomas or abscesses can also form in the lungs, leading to chronic lung damage, scarring and sometimes reduced lung function over time.
3. Skin infections and abscesses
Painful boils, abscesses and pus-filled lumps in the skin are very common. These may appear on the buttocks, groin, limbs or around hair follicles. They often heal slowly and may leave scars or sinus tracts if not drained and treated properly.
4. Swollen lymph nodes (lymphadenitis)
Lymph nodes in the neck, armpits or groin can become enlarged, painful and tender when they are infected. Recurrent lymph node infections are a classic feature of CGD and may need antibiotics or even surgery to drain pus collections.
5. Liver abscesses
Some people develop abscesses in the liver, causing fever, chills, pain in the right upper abdomen, and feeling very unwell. These liver infections can be difficult to treat and often need prolonged antibiotics and sometimes surgical drainage.
6. Bone infections (osteomyelitis)
CGD can lead to deep bone infections, especially in long bones or vertebrae. Patients may have bone pain, swelling, and difficulty moving the affected area. These infections are serious and usually require many weeks of treatment.
7. Bloodstream infections (septicemia)
When bacteria or fungi enter the blood, patients can develop septicemia, with high fever, low blood pressure and rapid breathing. This is life-threatening and needs urgent hospital care with intravenous antibiotics and supportive treatment.
8. Chronic diarrhea and abdominal pain
Many people with CGD develop gut inflammation that looks like inflammatory bowel disease. They may have chronic diarrhea, stomach cramps, blood in the stool, and poor absorption of food. This is often caused by granulomas and inflammation in the intestines.
9. Blockage of stomach or intestines
Granulomas can form at the outlet of the stomach or in the intestines and cause narrowing (stenosis). This can lead to vomiting, abdominal swelling, constipation or severe pain, sometimes requiring surgery or other procedures to relieve the blockage.
10. Bladder and urinary symptoms
Granulomas in the urinary tract or bladder can cause difficulty passing urine, pain, or urinary infections. Patients may notice frequent urination, burning, or blood in the urine when these areas are affected.
11. Fever, fatigue and feeling generally unwell
Many patients have frequent fevers, night sweats and a feeling of being run-down. The body is constantly fighting infections or inflammation, which uses a lot of energy and leads to tiredness and weakness.
12. Poor growth or short stature in children
Children with chronic septic granulomatosis may grow more slowly than their peers. Repeated infections, poor appetite, gut inflammation and high energy use can all affect height and weight. Short stature is a noted feature in some long-term studies.
13. Weight loss and malnutrition
Chronic illness, diarrhea and poor appetite often cause weight loss. Some patients become underweight or malnourished, which then weakens the immune system further and creates a vicious cycle of more infections and fatigue.
14. Mouth ulcers and gum problems
People with CGD can develop painful mouth ulcers, gum infections and poor oral health. These reflect both local infections and the broader immune weakness, and they can make eating and drinking more difficult.
15. Auto-inflammatory or autoimmune-like features
About half of patients may show signs of immune overactivity, such as skin rashes, joint pain, or sterile granulomas without active infection. These symptoms come from the dysregulated inflammatory response that is part of CGD, not just from infections.
Diagnostic tests
1. General physical examination
Diagnosis starts with a careful physical exam. The doctor checks height, weight, temperature, breathing, skin, lymph nodes, abdomen and joints. Repeated or unusual infections, scars from old abscesses and signs of chronic illness can raise suspicion for chronic septic granulomatosis.
2. Growth and nutritional assessment
Simple bedside tools such as growth charts, body mass index and mid-upper arm circumference help assess nutrition. Poor growth, low weight and signs of malnutrition suggest long-standing illness, supporting the possibility of CGD in a child with recurrent infections.
3. Detailed skin and lymph node examination
The clinician inspects the skin for boils, scars and draining sinuses and palpates lymph nodes for enlargement and tenderness. Clusters of past and present abscesses, especially in typical CGD sites, help build the clinical picture of a phagocyte defect.
4. Abdominal palpation and rectal exam
Palpation of the abdomen may reveal liver enlargement, spleen enlargement or masses suggesting granulomas or abscesses. In some cases, a gentle rectal exam can detect painful lesions or narrowing related to CGD-associated inflammatory bowel disease.
5. Chest examination with stethoscope
Listening to the lungs can reveal crackles, wheezes or reduced breath sounds linked to pneumonia, abscesses or chronic lung damage. Recurrent or persistent chest findings despite normal immunity in other family members should prompt further testing.
6. Complete blood count with differential
A complete blood count (CBC) looks at the number and type of blood cells. In CGD, white cell counts may be high during infections, and there may be anemia or other subtle changes. Although not specific, CBC helps show that the body is fighting frequent or severe infections.
7. Inflammatory markers: ESR and CRP
Blood tests such as erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) are often raised in CGD, especially during infections or flares of inflammatory bowel disease. These markers show that significant inflammation is present, but they do not by themselves prove CGD.
8. Blood cultures for bacteria and fungi
When a patient with suspected CGD has fever or looks septic, blood cultures are taken to grow and identify bacteria or fungi in the bloodstream. Finding typical CGD-associated germs can support the diagnosis and guide targeted treatment.
9. Dihydrorhodamine (DHR) flow cytometry test
The DHR test is the preferred modern test to diagnose CGD. A dye (DHR) is added to white cells and the cells are stimulated. In normal cells, the NADPH oxidase makes reactive oxygen, which changes the dye’s fluorescence measured by flow cytometry. In CGD, this fluorescence change is reduced or absent.
10. Nitroblue tetrazolium (NBT) reduction test
The older NBT slide test also measures oxidative burst. Neutrophils are exposed to a dye that turns dark when reduced by reactive oxygen species. In CGD, little or none of the dye becomes dark, indicating poor oxidative capacity. Many centers now prefer DHR, but NBT is still useful in some settings.
11. Neutrophil superoxide assays
Specialized tests directly measure superoxide production by neutrophils, such as cytochrome c reduction or chemiluminescence assays. These tests confirm that reactive oxygen production is low or absent and help characterize how severe the enzyme defect is.
12. Genetic testing panels for CGD genes
Once functional tests suggest CGD, genetic testing identifies the exact gene and mutation. Panels usually include CYBB, CYBA, NCF1, NCF2, NCF4 and CYBC1, and sometimes other genes that can mimic CGD. Knowing the mutation helps with family counseling and may guide treatment decisions.
13. Carrier and family studies
Testing relatives can find carriers and affected family members. DHR testing and genetic sequencing of parents and siblings help understand the inheritance pattern, support early diagnosis in at-risk children and assist with reproductive planning.
14. Biopsy and histopathology of granulomas
Sometimes doctors take a small tissue sample from the gut, skin, liver or lymph node. Under the microscope, pathologists can see non-caseating granulomas and pigmented macrophages typical of CGD-related inflammation, along with evidence of chronic infection or sterile inflammation.
15. Microbiological cultures from abscesses
Pus from skin, liver or lung abscesses is sent for bacterial and fungal cultures. The growth of typical CGD pathogens helps confirm that the immune system is failing to control these organisms and guides choice of antibiotics or antifungals.
16. Spirometry and lung function tests
Lung function tests measure how much air a person can breathe in and out and how quickly. In CGD, repeated lung infections and granulomas may cause obstructive or restrictive changes. Spirometry does not diagnose CGD, but it helps assess damage and plan long-term care.
17. Pulse oximetry and arterial blood gases
A finger probe (pulse oximeter) and, in severe cases, arterial blood gas tests show how well oxygen is getting into the blood. During pneumonia or sepsis in CGD, oxygen levels may fall, guiding decisions about hospital admission, intensive care and respiratory support.
18. Chest X-ray
A simple chest X-ray can show pneumonia, lung abscesses, granulomas or scarring. Recurrent or unusual chest findings in a young person with frequent infections are a strong clue that an underlying immune defect like CGD may be present.
19. CT scan of chest and abdomen
CT scans give detailed images of the lungs, liver, spleen and other organs. They can reveal deep abscesses, granulomas, lymph node enlargement or strictures that are not obvious on physical exam or plain X-ray, helping doctors fully map disease extent in CGD.
20. Ultrasound or MRI of organs
Ultrasound is useful to look for liver, spleen or kidney abscesses, while MRI can assess soft tissues, spine and brain. These imaging tests help monitor complications and guide biopsies or drainage procedures in patients with chronic septic granulomatosis.
Non-pharmacological treatments
Strict infection prevention routines
Daily handwashing with soap and water, careful tooth brushing, and gentle skin care lower the number of germs that enter the body. Families are taught to clean cuts quickly and watch for early signs of infection. These simple routines reduce the number of serious infections over time in people with CGD. [3]Early evaluation of fever
People with chronic septic granulomatosis are usually told that any fever is an emergency sign. They are advised to contact a doctor or emergency department immediately if they have fever, chills or feel suddenly unwell, so antibiotics can be started early and complications can be prevented. [4]Avoidance of high-risk environments
Patients are often asked to avoid places with heavy fungal exposure such as compost piles, barns, construction dust, hay, and damp basements. These environments contain molds like Aspergillus that commonly cause serious lung infections in CGD. Avoiding them can significantly reduce infection risk. [5]Careful wound and skin management
Any cut, insect bite, or scratch should be washed, disinfected, and watched closely. Sometimes doctors give topical antiseptics or dressings and ask for follow-up visits. Good wound care can prevent deep soft-tissue abscesses, which are common in CGD. [6] [3]Dental hygiene and regular dental checks
Because mouth infections can spread deeper in people with weak phagocyte function, daily brushing, flossing and regular dentist visits are strongly recommended. Treating cavities and gum disease early helps prevent serious abscesses or jaw infections. [7]Vaccinations (routine and special)
Routine childhood vaccines are usually recommended, and some guidelines suggest certain extra vaccines (like pneumococcal and influenza) to reduce common bacterial and viral infections. Live bacterial vaccines are generally avoided, so vaccination plans are carefully supervised by immunology specialists. [8]Education of family and school staff
Teaching parents, caregivers, teachers and older patients about warning signs, when to seek emergency care, and infection-prevention habits makes daily life safer. Written care plans and emergency cards help others respond quickly if the child becomes ill. [9]Nutrition and growth monitoring
Many patients struggle with growth, weight gain or chronic inflammation. Regular checks of weight, height and blood tests, plus individualized nutrition plans, help support the immune system and avoid malnutrition, which can worsen infection risk and wound healing. [10]Physical activity within safe limits
Light to moderate exercise is usually encouraged to maintain heart, lung and muscle health. At the same time, doctors help patients avoid activities that expose them to dirty water, dust or soil that could carry dangerous fungi or bacteria. [11]Psychological counseling and support groups
Living with a chronic immune disorder and frequent hospital visits can cause anxiety or depression. Counseling and patient support groups offer emotional support, coping skills and practical tips from other families living with CGD. [12]Regular specialist follow-up
Routine visits with an immunologist or specialist team allow close monitoring of infections, drug side effects and growth. Adjusting preventive medicines and lifestyle advice over time helps keep the condition as stable as possible. [13]Household infection control
Simple steps such as not sharing toothbrushes, using separate towels, and careful handling of pets (avoiding bites and scratches, cleaning litter safely) help reduce exposure to germs at home. Family members are encouraged to stay home when ill. [14] [3]Travel planning and prophylaxis advice
Before travel, especially to regions with higher infection risks, patients are advised to see their specialist. They may receive extra preventive antibiotics, antifungals or vaccines and guidance about safe food and water sources. [15]Sun and skin protection
Because frequent antibiotics and inflammatory problems may make skin more sensitive, using sunscreen, protective clothing and avoiding harsh chemicals can lower the risk of skin damage and secondary infections. [16]Early management of gut symptoms
Some people with chronic septic granulomatosis develop inflammatory bowel-like disease. Early evaluation of chronic diarrhea, blood in stool or belly pain allows treatment with diet changes, medicines or procedures before strictures or severe malnutrition occur. [17]Home emergency “action plan”
Families are often given written instructions listing warning signs and which hospital to attend, plus a list of current medicines. This reduces delay in starting treatment and helps emergency doctors act quickly and safely. [18]School and workplace accommodations
For older children and adults, adjustments such as flexible attendance, ability to attend online classes during infections, and safe work environments with lower infection exposure support education and employment while protecting health. [19]Genetic counseling for families
Because chronic septic granulomatosis is usually inherited, genetic counseling helps families understand carrier status, future pregnancy risks and available reproductive options. This allows informed decisions and earlier diagnosis in future children. [20]Infection surveillance imaging and labs
Regular lab tests and, when needed, imaging scans (such as ultrasound or CT) are used to look for hidden infections or granulomas, even when symptoms are mild. Detecting problems early often allows less aggressive and safer treatment. [21]Participation in clinical trials
Some patients may join clinical trials for new gene therapies or improved preventive regimens. These studies are carefully regulated and may offer access to advanced treatments not yet widely available, while also increasing scientific knowledge. [22]
Drug treatments
Dose and timing are always set by specialists following official prescribing information. Never start or change medicines without your doctor.
Interferon gamma-1b (Actimmune)
Interferon gamma-1b is a lab-made version of a natural immune signaling protein. In CGD it is used long-term to reduce the frequency and severity of serious infections. It is injected under the skin several times per week with dosing based on body surface area, following the official label. Common side effects include flu-like symptoms, headache, fatigue and sometimes mild blood count changes. [1]Trimethoprim–sulfamethoxazole (TMP-SMX / co-trimoxazole)
TMP-SMX is a combination antibiotic widely used for daily prophylaxis in chronic septic granulomatosis. It helps prevent many common bacterial infections in the lungs, skin and bloodstream. The dose is usually weight-based and taken once or twice daily, as directed on the product label. Important side effects include allergic rashes, low blood counts, kidney problems and, rarely, severe skin reactions, so regular monitoring is required. [2]Itraconazole (Sporanox and similar products)
Itraconazole is an oral antifungal medicine that can be used for long-term prevention of invasive fungal infections such as Aspergillus. In CGD, it is usually taken daily with food to improve absorption, and the dose depends on age and formulation. Side effects may include liver test abnormalities, stomach upset and interactions with many other drugs, so liver function and drug interactions are regularly checked. [3]Posaconazole (Noxafil)
Posaconazole is a broad-spectrum antifungal used for prophylaxis and treatment of serious fungal infections in immunocompromised patients. In some CGD patients at high risk, clinicians use it when other antifungals are not suitable or have failed. It is available as oral suspension and delayed-release tablets, with dosing based on weight and age. Side effects include liver enzyme elevation, nausea and drug interactions, especially with other medications processed by the liver. [4]Voriconazole (VFEND)
Voriconazole is another powerful antifungal that treats invasive aspergillosis and other serious fungal infections. For CGD patients with proven fungal disease, it may be given intravenously or orally, and dosing is carefully adjusted, often with blood-level monitoring. Common side effects include visual disturbances, liver test changes and skin sensitivity to sunlight, so sun protection and regular blood tests are important. [5]Broad-spectrum intravenous beta-lactam antibiotics
When CGD patients develop serious bacterial infections, broad-spectrum IV beta-lactam antibiotics (such as certain penicillins or cephalosporins) are often started quickly while cultures are pending. These drugs cover many likely bacteria and can be narrowed once lab results return. Doses and schedules depend on age, kidney function and infection site, and side effects mainly include allergic reactions and gut upset. [6]Aminoglycoside antibiotics (e.g., gentamicin)
Aminoglycosides are powerful IV antibiotics sometimes combined with other agents to treat severe gram-negative infections. In CGD, they may be used short-term for life-threatening infections. Because they can affect kidney function and hearing, doctors monitor blood levels, kidney tests and hearing when these drugs are used. [7]Metronidazole
Metronidazole is an antibiotic active against anaerobic bacteria and some parasites. It may be used when CGD patients develop abdominal or pelvic infections or abscesses where anaerobic organisms are suspected. It is given orally or IV, with dosing tailored to age and organ function. Side effects include metallic taste, nausea and, with long use, possible nerve or balance problems, so duration is kept as short as safely possible. [8]Macrolide antibiotics (e.g., azithromycin)
Macrolides are sometimes used for respiratory infections or as part of long-term management for recurrent chest infections. They also have mild anti-inflammatory effects on airways. Dosing is age- and weight-based, often given once daily or in short courses. Side effects include stomach upset and, rarely, heart rhythm changes, so they are used with caution in patients with known cardiac issues. [9]Corticosteroids (e.g., prednisone)
Corticosteroids are not used to fight infection directly but to control granulomatous inflammation, such as bowel inflammation or obstructing granulomas in organs. Short or carefully monitored longer courses may be prescribed. Doses are individualized and slowly tapered. Side effects can include weight gain, mood changes, high blood sugar, bone thinning and higher infection risk, so they are used only when benefits clearly outweigh risks. [10]NSAIDs (e.g., ibuprofen) for pain and inflammation
Non-steroidal anti-inflammatory drugs may be used to control pain or mild inflammation in joints or soft tissues. They do not treat infection but improve comfort and mobility. Doses are based on body weight and should be taken with food. Side effects include stomach irritation, kidney effects and effects on platelets, so they are avoided or limited in patients with kidney or bleeding problems. [11]Paracetamol (acetaminophen) for fever control
Paracetamol is widely used to reduce fever and pain. In CGD, it helps keep patients more comfortable while antibiotics and antifungals treat the underlying infection. Doses must respect maximum daily limits to protect the liver. When used correctly, side effects are uncommon, but overdose can cause severe liver damage. [12]Granulocyte colony-stimulating factor (G-CSF, e.g., filgrastim)
Filgrastim is a lab-made form of a natural growth factor that stimulates the bone marrow to produce more neutrophils. In some CGD situations with low neutrophil counts or severe infection, doctors may use G-CSF to boost neutrophil numbers temporarily. It is given by injection, with dose based on weight. Side effects can include bone pain, spleen enlargement and changes in blood counts, so close monitoring is essential. [13]Intravenous immunoglobulin (IVIG)
IVIG is a purified antibody product from donated plasma. It is sometimes used in CGD patients with low antibody levels or specific complications to support the immune response. It is given by IV infusion at intervals of several weeks. Side effects can include headache, flushing, blood pressure changes and, rarely, kidney or clotting problems, so infusions are supervised in clinic or hospital. [14]Antifungal combinations (e.g., azole plus echinocandin)
In severe fungal infections, specialists may combine different antifungal classes to improve coverage and reduce resistance risk. For example, an azole may be paired with an echinocandin. Doses, schedules and monitoring are complex and handled only by experienced teams. Side effects include liver test changes and drug interactions, so frequent blood tests are required. [15]Targeted antibiotics based on culture results
Once lab cultures identify the exact germ and its sensitivities, therapy is “narrowed” to a more specific antibiotic (for example, a particular cephalosporin or fluoroquinolone). This reduces side effects and resistance pressure. Dose and duration depend on the germ, organ involved and patient response. [16]Prophylactic antifungal therapy in high-risk periods
During times of extra risk (such as after surgery or serious infection), doctors may increase antifungal doses or change to a broader agent for a limited period. This short-term intensification aims to prevent relapse while tissues heal. Treatment length and drug selection are individualized. [17]Short-course “stress antibiotics”
Some centers use short antibiotic courses during dental work or minor procedures in CGD patients considered at higher risk. This “stress” prophylaxis is similar to strategies in other immune defects and is timed around the procedure to minimize infection risk. [18]Medicines for inflammatory bowel-type disease
For CGD-related colitis, doctors may combine antibiotics with anti-inflammatory or immunomodulatory medicines (for example, certain aminosalicylates or other gut-directed drugs). These aim to calm inflammation while controlling infection. Doses are tailored to symptoms and response, and side effects depend on the exact agent used. [19]Supportive medicines (anti-nausea, stomach protection, etc.)
Because many strong drugs are used in chronic septic granulomatosis, patients may need supportive medicines such as anti-nausea agents, stomach protectors or laxatives. These do not treat the immune defect but make complex treatment plans more tolerable and safer. [20]
Dietary molecular supplements
(These are general examples commonly discussed in immune health; they must only be used if your doctor agrees, especially in CGD where infections and liver issues are serious.)
Vitamin D – helps regulate both innate and adaptive immune responses and may lower infection risk when levels are low. Dose is usually based on blood levels and age. Too much can cause high calcium and kidney problems, so monitoring is essential. [1]
Omega-3 fatty acids (EPA/DHA) – found in fish oil, they have anti-inflammatory effects and may support cardiovascular and overall health in chronic inflammatory states. Typical doses are individualized; high doses can affect bleeding risk and interact with some medicines. [2]
Zinc – an essential trace element necessary for normal immune cell development and function. Supplementation may be considered if blood levels are low, but too much zinc can interfere with copper levels and immune function, so professional guidance is required. [3]
Vitamin C – supports collagen formation and acts as an antioxidant. It may help wound healing and support phagocyte function in a general way. Daily doses must respect safe upper limits to avoid stomach upset or kidney stones in prone individuals. [4]
Folic acid and B-complex vitamins – support red blood cell production and overall metabolism, which is important in chronic illness and recurrent infections. Doses are usually within standard daily requirement ranges unless deficiency is proven. Very high doses without clear need are not advised. [5]
Probiotics (selected strains) – specific probiotic strains may help gut barrier function and reduce antibiotic-related diarrhea. However, in serious primary immune deficiencies there is theoretical risk of probiotic-related infection, so only products and doses approved by the treating immunologist should be used. [6]
Protein supplements (whey or plant-based) – when appetite is poor, high-quality protein powders or drinks can help maintain muscle mass and support immune cell production. Amounts are adjusted to age, kidney function and total calorie needs to avoid excess. [7]
Iron (only if deficient) – iron is critical for red blood cells, but free iron also feeds some bacteria. Therefore, iron supplements are only used if true deficiency anemia is documented and are closely monitored, balancing benefits and infection risks. [8]
Calcium plus vitamin D for bone health – chronic inflammation, steroids and limited activity can weaken bones. Balanced calcium and vitamin D intake, mainly from diet and sometimes supplements, supports bone strength, but total intake must avoid excessive doses. [9]
Multinutrient formulas supervised by a dietitian – in some cases, specially designed liquid formulas provide balanced calories, protein, vitamins and minerals. They can be used as partial or full nutrition support in underweight or malnourished patients, always under specialist guidance. [10]
Immune-booster / regenerative / stem-cell-related drugs
Interferon gamma-1b as functional immune enhancer
Besides lowering infections, interferon gamma-1b acts as a functional immune booster by improving phagocyte oxidative burst. It does not correct the genetic defect but helps existing cells work better. Use, dose and duration are highly specialized and based on long-term data in CGD. [1]Granulocyte colony-stimulating factor (G-CSF)
G-CSF (filgrastim and related products) can temporarily increase neutrophil numbers and improve their ability to reach infection sites. It is typically used in acute severe infections or specific complications, not constantly. It is given as injections, with close monitoring of spleen size, blood counts and side effects like bone pain. [2]Hematopoietic stem cell transplantation (HSCT) conditioning medicines
While HSCT itself is a procedure, the drugs used around it (conditioning regimens, immune-suppressants and infection prophylaxis) help the transplanted donor stem cells engraft and rebuild a new, functional immune system. These medicines are chosen individually and given only in specialized transplant centers because they have serious potential side effects. [3]Gene therapy vectors (investigational)
Some clinical trials use viral vectors to insert a working copy of the defective CGD gene into the patient’s stem cells. The “drug” part is the gene-therapy vector itself. Although early results are promising, this approach is still limited to research settings and requires intense monitoring for insertion-related side effects such as clonal expansion. [4]Supportive immunomodulators in selected cases
In rare situations, other immunomodulatory medicines may be used to fine-tune immune responses, such as reducing harmful inflammation while preserving infection control. Choice of agent depends on the complication (for example, severe colitis), and therapy is always balanced against infection risk. [5]Regenerative nutrition and rehabilitation programs
Although not a single drug, structured programs combining optimized nutrition, physical rehabilitation and careful infection control allow the body’s tissues to recover after severe infections or surgery. Over time this can restore strength, lung capacity and overall functional reserve, acting as a “regenerative” approach without experimental medicines. [6]
Surgeries
Abscess drainage (surgical or image-guided)
Deep abscesses in liver, lung or soft tissue are common in chronic septic granulomatosis. When antibiotics alone are not enough, surgeons or interventional radiologists drain the pus with a small tube or incision. Removing this infected material reduces germ load, relieves pain and helps antibiotics work better. [1]Bowel surgery for strictures or obstruction
Granulomas in the intestine can cause narrowing (“strictures”) and blockage. If medicines fail, surgeons may remove the diseased bowel segment or widen the narrowed area. The aim is to restore normal passage of food, relieve pain and prevent dangerous perforation. [2]Lung surgery for localized damage
Severe, repeated lung infections or fungal masses may leave localized, non-functioning or destroyed lung areas. In selected patients, surgical removal of that portion can reduce ongoing infection risk and improve breathing, although surgery is considered only when other treatments are not enough. [3]Hematopoietic stem cell transplantation (HSCT)
HSCT replaces the patient’s faulty bone marrow with healthy stem cells from a donor. Over time, these donor cells can produce phagocytes with a working NADPH oxidase system, potentially offering a functional cure. HSCT carries serious short- and long-term risks, so it is used after detailed risk–benefit discussion in experienced centers. [4]Surgical management of complications (e.g., fistulas, skin lesions)
Other surgeries may be needed to repair fistulas (abnormal connections between organs), remove chronically infected tissue, or manage severe skin complications. The goal is to restore anatomy, reduce chronic infection sources and improve quality of life while keeping procedures as conservative as possible. [5]
Prevention strategies
Daily hygiene: careful handwashing, dental care and skin cleaning. [1]
Avoid high-risk fungal environments like compost, barns and construction dust. [2]
Take all prescribed preventive antibiotics and antifungals exactly as directed. [3]
Seek urgent medical care for any fever or rapidly worsening symptoms. [4]
Keep vaccinations up to date according to the immunologist’s plan. [5]
Maintain good nutrition and hydration to support overall immunity. [6]
Avoid smoking and second-hand smoke, which damage the lungs. [7]
Plan travel with your specialist, including medicines and emergency contacts. [8]
Attend regular specialist follow-up visits and lab monitoring. [9]
Educate family, school, and employers about the condition and emergency plans. [10]
When to see doctors
People with chronic septic granulomatosis should have regular planned visits with their immunology or infectious disease team, even when they feel well, to review medicines, blood tests and any new symptoms. They should seek urgent or emergency care if they develop fever, chills, sudden cough or shortness of breath, severe belly pain, vomiting, blood in stool, painful lymph nodes or unusual skin changes such as warm, tender lumps. Any wound or bite that becomes red, swollen or painful should also be assessed promptly. It is safer to be checked early, even if the problem later turns out to be minor. [1]
What to eat and what to avoid
Eat a balanced diet rich in fruits, cooked vegetables, whole grains and lean proteins to support healing and immune function. [1]
Eat enough calories and protein (meat, fish, eggs, dairy, legumes) to maintain healthy weight and muscle. [2]
Eat safe, well-cooked foods and pasteurized dairy to reduce infection risk from germs in raw food. [3]
Eat small, frequent meals if appetite is low during or after infections. [4]
Avoid raw or undercooked meat, fish, eggs and unpasteurized milk products that may contain dangerous bacteria. [5]
Avoid unwashed raw vegetables, salad from unknown sources and street food with poor hygiene. [6]
Avoid excessively salty, sugary and highly processed foods that add calories but few nutrients. [7]
Avoid alcohol and smoking (for older teens/adults), as they damage liver and lung health and interact with many medicines. [8]
Be cautious with herbal supplements: many interact with antifungals or other medicines, so always ask your doctor first. [9]
Drink safe, treated or boiled water, especially when traveling or if local water quality is uncertain. [10]
Frequently asked questions
Is chronic septic granulomatosis curable?
Some people can achieve a functional cure with hematopoietic stem cell transplantation, which replaces the faulty immune system with a donor’s. Others live many years with the disease controlled using preventive antibiotics, antifungals, interferon gamma and careful lifestyle steps. [1]Is this disease always inherited?
Yes, chronic septic granulomatosis is a genetic primary immunodeficiency, usually inherited in X-linked or autosomal recessive patterns. Sometimes, a new (de-novo) mutation occurs in a child with no prior family history. Genetic testing and counseling help families understand their specific situation. [2]Can children with this condition go to school?
Most children can attend school with appropriate precautions, such as good hygiene, vaccination, quick treatment of infections and clear communication with teachers. Some may need temporary home schooling during serious infections or after transplantation. [3]Will my child’s growth and development be normal?
Growth can be affected by repeated infections, inflammation and some medicines. With early diagnosis, aggressive infection control and good nutrition, many children achieve near-normal growth. Regular monitoring by pediatric and nutrition specialists is important. [4]Why are antifungal medicines so important?
People with CGD are especially vulnerable to Aspergillus and other molds, which can cause severe lung and systemic infections. Long-term antifungal prophylaxis and rapid treatment of suspected fungal disease are key parts of modern management and significantly improve outcomes. [5]Is interferon gamma safe to use for many years?
Interferon gamma has been used long-term in many CGD patients and has been shown to reduce serious infections. Common side effects are flu-like symptoms, headache and fatigue, which often improve with time or dose adjustment. Blood counts and liver tests are monitored to detect rarer side effects early. [6]Can vaccines be dangerous in chronic septic granulomatosis?
Most routine inactivated vaccines are not only safe but recommended. However, live bacterial vaccines are usually avoided, and live viral vaccines are considered case-by-case. Vaccination plans should always be created by an immunologist who knows the patient’s full history. [7]How often are check-ups needed?
Check-up frequency depends on age, disease severity and recent infections, but many patients are seen at least every 3–6 months. More frequent visits are needed after hospitalizations, medication changes or transplantation. [8]What is the long-term outlook?
Outcomes have improved dramatically with modern prophylaxis, interferon gamma and better fungal diagnostics. Many patients now reach adulthood and beyond, especially when diagnosed early and managed in specialist centers. Transplant centers may offer curative options to carefully selected patients. [9]Can people with this condition play sports?
Light to moderate, well-supervised exercise is usually encouraged for heart, lung and muscle health. High-injury-risk or very dusty/muddy sports may need to be limited. Doctors help each patient choose safe activities that fit their interests. [10]Is travel possible, including international trips?
Yes, with good planning. Patients should carry a summary of their diagnosis and medicines, extra supplies of key drugs, and emergency contact information. Pre-travel consultation with their specialist helps adjust prophylaxis and vaccination for the destination. [11]Are brothers and sisters at risk?
Siblings may be carriers or affected, depending on the inheritance pattern. Genetic testing and careful evaluation of brothers and sisters are strongly recommended, even if they appear healthy, because early diagnosis leads to better outcomes. [12]Can chronic septic granulomatosis cause autoimmune or inflammatory problems?
Yes, some patients develop inflammatory complications such as colitis, granulomatous obstruction or autoimmune-like symptoms. These problems often require a careful balance between treating inflammation and avoiding too much immune suppression, which could increase infection risk. [13]Is gene therapy available now?
Gene therapy for CGD is under active research. Some clinical trials have shown promising results, but gene therapy is not yet routine standard care in most countries. Participation in such trials typically happens in specialized research centers only. [14]What is the most important thing families can do?
The most important steps are early recognition of infections, strict adherence to preventive medicines, and close partnership with a specialized care team. Combined with healthy lifestyle choices and emotional support, these measures give the best chance for a long and active life. [15]
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: January 23, 2026.
