Quie syndrome is another name for a disease called chronic granulomatous disease (CGD). In this disease, some white blood cells that fight germs do not work properly. These white blood cells are called phagocytes. Their job is to eat and kill bacteria and fungi. In Quie syndrome, the phagocytes can swallow the germs, but they cannot kill them well. So infections keep coming back again and again.
Quie syndrome is another name for chronic granulomatous disease (CGD). It is a rare, inherited problem of the immune system in which some white blood cells (phagocytes) cannot make the chemicals they need to kill certain bacteria and fungi. This weakness leads to repeated serious infections and to clumps of inflamed immune cells called granulomas in organs such as the skin, lungs, liver, lymph nodes, gut, and bones. In Quie syndrome, the main defect is in an enzyme system called NADPH oxidase inside phagocytes. Because this enzyme does not work properly, the cells cannot produce “reactive oxygen” (like superoxide) that normally helps kill germs after they are swallowed. This means infections may be severe, long-lasting, and hard to clear.
Because the germs are not killed, the body tries to “wall them off” by building small tight lumps of immune cells. These lumps are called granulomas. Granulomas can form in many organs, such as the lungs, liver, gut, skin, and lymph nodes. They can block normal flow of air, food, or urine and cause pain and swelling.
Quie syndrome is a genetic disease. This means the problem is present from birth and is caused by a change (mutation) in certain genes that control an enzyme called NADPH oxidase inside phagocytes. This enzyme helps make “reactive oxygen species,” special chemicals that kill germs. When the enzyme does not work, the body cannot make these killing chemicals, and infections become severe and frequent.
Other Names
Doctors and books use many different names for Quie syndrome. All of the names below mean the same disease:
Chronic granulomatous disease (CGD)
Chronic granulomatous disorder
Chronic septic granulomatosis
Bridges–Good syndrome
Congenital dysphagocytosis
Quie syndrome
These names all describe the same main idea: from birth, the phagocytes do not kill germs properly, so the person gets repeated serious infections and granulomas.
Types of Quie Syndrome
Doctors divide Quie syndrome into types based on which gene is changed and how it is inherited. The most important division is between X-linked and autosomal recessive types.
X-linked chronic granulomatous disease (most common type)
Autosomal recessive CGD due to NCF1 (p47phox)
Autosomal recessive CGD due to CYBA (p22phox)
Autosomal recessive CGD due to NCF2 (p67phox)
Autosomal recessive CGD due to NCF4 (p40phox)
In X-linked CGD, the problem gene is on the X chromosome, usually the CYBB gene. Boys have only one X chromosome, so if that gene is faulty, they almost always show the disease. This type is the most common and often more severe, with more infections and earlier problems in childhood.
In autosomal recessive CGD, the problem gene is on a non-sex (autosomal) chromosome, such as NCF1, CYBA, NCF2, or NCF4. The child gets one faulty copy of the gene from each parent, who are usually healthy carriers. These types may be a little milder on average, but they still cause serious infections and granulomas.
Sometimes, a child has a new (de novo) mutation, meaning the gene change was not seen before in the family. In rare cases, enzyme problems that reduce NADPH (such as some forms of G6PD deficiency) can cause a CGD-like picture, because the phagocytes still cannot make enough reactive oxygen to kill germs.
Causes of Quie Syndrome
Remember, Quie syndrome is always due to problems in genes or enzymes that control germ-killing in phagocytes. The “causes” listed here describe the different genetic changes and risk patterns that can lead to this disease.
Mutation in the CYBB gene (gp91phox) on the X chromosome
This is the classic cause of X-linked CGD. A change in this gene stops the main part of the NADPH oxidase enzyme from working, so phagocytes cannot make reactive oxygen to kill germs.Mutation in the NCF1 gene (p47phox)
This gene codes for a helper protein in the NADPH oxidase complex. When it is faulty, the enzyme cannot assemble correctly, and germ killing fails. This is a common autosomal recessive cause.Mutation in the CYBA gene (p22phox)
Changes in this gene affect a small membrane protein needed to anchor the enzyme complex. Without it, the oxidase cannot work properly and infections become frequent.Mutation in the NCF2 gene (p67phox)
This gene helps switch on the oxidase enzyme. When it is damaged, phagocytes cannot start the respiratory burst that produces germ-killing chemicals.Mutation in the NCF4 gene (p40phox)
This cause is rarer. The p40phox protein controls and supports the oxidase in certain cell compartments. Mutations here can still lead to CGD features and repeated infections.New (de novo) gene mutation in a CGD-related gene
Sometimes the mutation appears for the first time in the child and is not seen in either parent’s blood. This also causes Quie syndrome, even without family history.Inheritance from a carrier mother (X-linked pattern)
In X-linked CGD, a healthy carrier mother passes her faulty CYBB gene to her son. The boy has no second good copy, so he develops Quie syndrome.Both parents carrying the same autosomal recessive mutation
For autosomal recessive forms, both parents usually have one faulty and one normal copy of a gene like NCF1. If a child receives both faulty copies, the child gets Quie syndrome.Parental consanguinity (marriage within the same family)
When parents are related (for example, cousins), they are more likely to carry the same rare mutation. This raises the chance of an autosomal recessive form in their children.Skewed X-inactivation in female carriers
Female carriers of CYBB usually stay healthy, but if one X chromosome is mostly turned off in their blood cells, many phagocytes may use the faulty gene, and the woman can have mild or partial CGD symptoms.G6PD deficiency causing low NADPH levels
In rare cases, severe forms of glucose-6-phosphate dehydrogenase (G6PD) deficiency can lower NADPH, the fuel for NADPH oxidase, and cause a CGD-like problem where phagocytes cannot make reactive oxygen well.Other rare enzyme defects reducing NADPH
Very rare enzyme problems in the same pathway can again reduce NADPH and lead to poor oxidative killing, so the child behaves like a CGD patient.Nonsense mutations that stop the protein early
Some genetic changes create a “stop” signal too soon in the gene, so the enzyme protein is cut short and non-functional. This is a known mechanism in many CGD genes.Frameshift mutations from small insertions or deletions
If one or a few DNA letters are added or lost, the reading frame shifts. The wrong protein is made, and the NADPH oxidase does not work.Missense mutations changing one amino acid
Sometimes only one building block of the protein changes. If that place is important for enzyme shape or binding, the oxidase can still fail, causing Quie syndrome.Large deletions removing part or all of a CGD gene
In some families, a piece of chromosome containing the gene is missing. Without any copy of the gene at all, the enzyme cannot be made.Mutations in promoter or regulatory regions
Some mutations do not change the protein structure but change how much of the gene is turned on. Low gene activity can still reduce oxidase function enough to cause disease.Founder mutations in certain communities
In some regions or ethnic groups, one specific mutation becomes common (a founder mutation). Many families in that area may share the same CGD cause.Unknown gene mutations with CGD-like phenotype
In a few patients, the exact gene is not yet found, but their phagocytes clearly show NADPH oxidase failure and CGD behavior. New genes are still being studied.Gene changes discovered by modern sequencing tests
With next-generation sequencing, doctors now find many different rare mutations in CGD genes that were not recognized before. These new changes are also causes of Quie syndrome.
Symptoms of Quie Syndrome
People with Quie syndrome share one main problem: their body cannot clear certain bacterial and fungal infections. Symptoms often start in early childhood, usually before the age of five.
Repeated lung infections (pneumonia)
Children often get frequent or severe pneumonia. They may cough, breathe fast, have chest pain, or need oxygen. Pneumonia comes back even after treatment, because germs are not fully killed.Skin abscesses and boils
Thick, painful lumps filled with pus often form in the skin or under the skin. They may need cutting and drainage. These abscesses are common in CGD.Liver abscesses
Deep abscesses can form in the liver. They can cause fever, pain on the right side of the belly, poor appetite, and weight loss. They are often difficult to treat and may need surgery.Lymph node swelling and infection (lymphadenitis)
Lymph nodes in the neck, armpit, or groin may swell, become painful, and fill with pus. This shows the immune system is fighting but cannot clear the germs.Bone infections (osteomyelitis)
Infection can spread to bones, especially in the limbs or spine. The child may have bone pain, limp, or not want to use the affected arm or leg.Joint infections (septic arthritis)
Joints can become infected, causing swelling, redness, and severe pain. Movement is very limited, and the child may refuse to walk or move the joint.Bloodstream infection (sepsis or fungemia)
Bacteria or fungi can spread into the blood, leading to high fever, fast heart rate, low blood pressure, and serious illness needing hospital care.Chronic diarrhea and colitis
Inflammation of the gut can cause long-lasting diarrhea, belly pain, blood in stool, and poor growth. It can look like inflammatory bowel disease.Problems passing urine or stool due to granulomas
Granulomas can form in the urinary or digestive tract and block the normal passage of urine or stool, causing pain, swelling, or constipation.Mouth ulcers and gum disease
Recurrent painful sores in the mouth and inflamed gums can appear, making eating and brushing teeth hard.Fever that keeps coming back
Fever is a common sign of infection. In Quie syndrome, fever may keep returning because infections never fully clear or new ones start.Poor weight gain and failure to thrive
Because of frequent infections, poor appetite, and gut problems, children may not gain weight or grow as expected for their age.Tiredness and low energy
Constant illness and inflammation make the person feel very weak and tired, even when resting.Frequent infections with special germs
People with Quie syndrome often get infections from catalase-positive bacteria and fungi, such as Staphylococcus aureus, Serratia, Burkholderia, Nocardia, and Aspergillus. These germs are especially troublesome in CGD.Family history of early severe infections or CGD
Sometimes there is a known history of similar severe infections in brothers or male relatives. This can be an important clue to Quie syndrome.
Diagnostic Tests
Doctors diagnose Quie syndrome by looking at the symptoms, examining the body, testing how neutrophils work, and finding the exact gene change. A mix of physical exam, simple manual checks, blood tests, special neutrophil function tests, and imaging is used to be sure of the diagnosis and to plan treatment.
Physical Examination Tests
General physical examination
The doctor looks at the child’s overall health, body build, and signs of chronic illness. They check temperature, pulse, breathing rate, and blood pressure. They also look for scars from past infections, signs of poor growth, and any abnormal posture or movement.Skin and lymph node examination
The doctor inspects the skin for boils, abscesses, rashes, or scars. They feel the lymph nodes in the neck, armpits, and groin to see if they are big, painful, or stuck together. These findings suggest repeated or ongoing infections.Chest examination (heart and lungs)
Using a stethoscope, the doctor listens to the lungs for crackles, reduced breath sounds, or wheezing, which can show pneumonia or lung damage. They also listen to the heart and look for signs of breathing difficulty, such as chest retractions.Abdominal examination (liver, spleen, gut)
The doctor feels the abdomen for an enlarged liver or spleen, which can happen after repeated infections. They also check for tenderness, masses, or signs of blocked bowel or urine flow due to granulomas.
Manual Tests
Temperature measurement with a thermometer
Regular checking of body temperature helps detect fever in patients who may not complain much. Repeated or persistent fever is a simple but very important sign of infection in Quie syndrome.Weight and height charting
The doctor or nurse measures the child’s weight and height and plots these on a growth chart. Slow growth or weight loss can show long-term illness or poor nutrition due to chronic infections and gut problems.Pain and tenderness check
Using gentle pressure with the hands, the doctor checks where the child feels pain: bones, joints, abdomen, or skin. Pain with warmth or swelling may show abscesses, osteomyelitis, or colitis. This simple bedside test guides further imaging.Joint movement (range of motion) test
The doctor carefully moves joints like knees, hips, shoulders, and elbows to see if movement is painful or limited. Joint pain and stiffness can suggest septic arthritis or inflammation near bones.
Laboratory and Pathological Tests
Complete blood count (CBC) with differential
CBC shows the number of white cells, red cells, and platelets. In Quie syndrome, the white cell count may be high during infections, but the cells do not work normally. The differential count looks at neutrophils and other white cells in detail.Inflammatory markers (ESR and CRP)
Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) are blood tests that show how much inflammation is in the body. They are often raised in CGD during infections or gut inflammation and help monitor response to treatment.Blood and pus cultures
Samples from blood, abscess fluid, sputum, or other infected sites are sent to the lab. The lab grows (cultures) bacteria and fungi to find the exact germ and test which antibiotics work best. This is vital in CGD because certain germs are very common and may be resistant.Tissue biopsy and histopathology of granulomas
Sometimes a small piece of tissue from the gut, lymph node, or another organ is removed with a needle or small cut. Under the microscope, the pathologist sees granulomas and signs of long-standing infection. This supports the diagnosis and rules out cancer or other diseases.
Electrodiagnostic Tests
Dihydrorhodamine (DHR) 123 flow cytometry test
This is the gold-standard test for Quie syndrome. Neutrophils are mixed with a dye called DHR and then stimulated. A machine called a flow cytometer measures how bright the cells become. In CGD, the cells stay dim because they cannot make reactive oxygen. The pattern also helps tell X-linked from autosomal types.Nitroblue tetrazolium (NBT) reduction test
This older test mixes neutrophils with a yellow dye (NBT) and a stimulant. Normal cells turn the dye dark blue when they produce reactive oxygen. In Quie syndrome, the cells fail to turn blue or turn only weakly blue, showing poor oxidative burst.Chemiluminescence assay
In this test, neutrophils are given a special chemical that glows (gives off light) when reactive oxygen is produced. A sensitive machine measures the light. Very low or absent light signal shows severe NADPH oxidase deficiency, as in CGD.Cytochrome c reduction assay
This lab method measures how well neutrophils reduce cytochrome c, another indicator of superoxide production. If reduction is low, it confirms that the respiratory burst is weak or absent, supporting a diagnosis of Quie syndrome.
Imaging Tests
Chest X-ray
A simple chest X-ray looks for pneumonia, lung abscesses, or long-term lung changes caused by repeated infections. It is usually the first imaging test when a patient with CGD has cough or breathing problems.CT scan of chest and abdomen
A CT scan gives much more detail than a plain X-ray. It can show deep abscesses in the lungs, liver, spleen, or lymph nodes, and can detect granulomas and blockages in organs. This helps plan surgery or drainage if needed.Ultrasound of abdomen and other organs
Ultrasound uses sound waves and is safe for children. It can detect liver abscesses, enlarged spleen, enlarged lymph nodes, and granulomas in the abdomen. It is often used to follow up and see if treatment is working.MRI when needed
Magnetic resonance imaging (MRI) is used when detailed pictures of the brain, spine, or other soft tissues are needed. It helps find granulomas or bone infections that are not clear on other tests, without using radiation.
Non-pharmacological Treatments (Therapies and Others)
Infection-prevention education
Teaching the family and patient about how CGD works and why infections are dangerous is one of the most important therapies. Doctors and nurses explain early warning signs, when to seek help, and how to take medicine correctly. Good education helps people act quickly when fevers or new symptoms appear, which can reduce hospital stays and complications.Strict hand and personal hygiene
Regular hand-washing with soap and water, especially after using the bathroom, before eating, and after touching animals or soil, lowers the number of germs reaching the body. Short nails, daily bathing, and good dental care also reduce infection risk. These steps are simple but powerful “non-drug” tools in daily life.Avoiding high-risk environmental exposures
People with Quie syndrome are usually advised to avoid gardening, raking leaves, handling mulch or compost, and entering dusty barns or construction sites, because these places can contain dangerous molds like Aspergillus. Wearing a mask and gloves, or asking someone else to do these tasks, helps prevent severe fungal lung infections.Safe swimming and water exposure
Experts often recommend swimming only in well-chlorinated pools and avoiding lakes, ponds, rivers, or poorly treated pools and hot tubs. These natural or poorly treated waters can carry bacteria and fungi that may cause serious skin or lung infections in CGD.Prompt wound and skin care
Any cut, bite, or scratch should be washed right away with clean water and mild soap. Families are taught to watch for redness, warmth, or pus and to seek medical advice early. Quick cleaning and early care can stop small skin injuries from becoming large abscesses, which are common in CGD.Early fever plan and “rescue” pathway
Many centers give families a written “fever plan” telling them what to do if temperature rises above a certain level. The plan may include calling the immunology team or going straight to the emergency department. Rapid evaluation and early antibiotics can prevent sepsis and organ damage.Regular specialist follow-up
Routine visits with an immunologist or hematologist allow ongoing monitoring, vaccine updates, and adjustment of prophylactic medicines. Doctors can pick up slow changes like weight loss, anemia, or chronic gut inflammation early and treat them before they become severe.Nutritional counseling and growth monitoring
Children with Quie syndrome may have poor appetite or chronic diarrhea from gut inflammation. A dietitian can design high-calorie, high-protein meal plans that support growth and wound healing. Regular height and weight checks help spot problems early so extra nutritional support can be added.Psychological support and counseling
Living with a rare, chronic disease can cause anxiety, sadness, or stress in both the patient and the family. Talking with a psychologist, counselor, or support group can help people cope, improve treatment adherence, and reduce feelings of isolation. Mental health care is a key part of holistic management.School and workplace accommodations
Teachers and employers may need to adjust schedules or activities so the person avoids high-risk exposures or excessive fatigue. Examples include allowing mask use, avoiding jobs involving soil or mold, and giving flexibility for medical appointments. This support helps maintain education and employment while staying safe.Vaccination with non-live vaccines
Routine non-live vaccines (such as inactivated influenza, pneumococcal, and others recommended by guidelines) help lower infection risk. Live vaccines are usually avoided or considered carefully, depending on the patient and local expert recommendations. Vaccination works together with other measures; it does not replace them.Household contact vaccination and hygiene
Family members and close contacts should also be fully vaccinated and practice good hygiene. This reduces the chance they will pass infections to the person with Quie syndrome. It is a “herd” protection strategy built around the patient.Careful travel planning
Travel to areas with poor sanitation, high rates of certain infections, or limited medical facilities needs special planning. Doctors may advise extra vaccinations, emergency antibiotic supplies, and a written medical summary. Some risky trips may be postponed or modified to keep the person safe.Avoidance of tobacco smoke and indoor mold
Exposure to cigarette smoke and damp, moldy indoor spaces irritates the lungs and makes infections more likely. Keeping the home smoke-free, fixing water leaks, and cleaning visible mold reduce the burden on already vulnerable lungs.Physical activity within safe limits
Gentle, regular exercise such as walking or light sports helps maintain muscle strength, mood, and lung function. Activities that greatly increase exposure to dust, soil, or stagnant water are usually avoided. A balanced plan is best: stay active, but stay safe.Gut-friendly lifestyle for CGD colitis
Some people with Quie syndrome develop Crohn-like inflammation of the intestines. For them, stress management, small frequent meals, and avoiding personal trigger foods (like very spicy or greasy foods) may help reduce flare-ups, along with medical treatment.Home infection-control routines
Families may clean high-touch surfaces more often, wash bed linens regularly, and separate personal items like toothbrushes and razors. These simple steps lower everyday germ spread inside the home, supporting other medical treatments.Use of medical alert information
Wearing a medical alert bracelet or carrying an information card stating “Chronic Granulomatous Disease / Quie syndrome” helps emergency doctors act quickly if the patient becomes suddenly ill away from home. Rapid recognition can speed correct antibiotic choices.Participation in patient support organizations
Groups for people with CGD and primary immune deficiencies offer education, peer support, and information about research studies. Families can learn practical tips and feel less alone. Many national and international organizations exist for rare diseases like Quie syndrome.Genetic counseling for the family
Because Quie syndrome is inherited, genetic counseling can help parents and relatives understand carrier status, recurrence risk in future pregnancies, and options for family planning. This support allows informed decisions and early testing if needed.
Drug Treatments
Note: Doses below are typical adult ranges from prescribing information. Exact dose, schedule, and duration must always be chosen by a specialist based on age, weight, and infection type.
Interferon gamma-1b (Actimmune®)
Interferon gamma-1b is a lab-made immune signaling protein used specifically to reduce the frequency and severity of serious infections in CGD. It is given as a subcutaneous injection several times per week. It boosts the ability of phagocytes to kill some pathogens and improves overall infection control. Common side effects include flu-like symptoms, fever, headache, and injection-site reactions.Trimethoprim-sulfamethoxazole (co-trimoxazole, e.g., Bactrim®)
This combined antibiotic is widely used as long-term prophylaxis against many bacterial infections in CGD. It works by blocking two steps in folate synthesis, which bacteria need to grow. It is usually taken once or twice daily with dose adjusted for weight and kidney function. Side effects can include rash, sun sensitivity, low blood counts, and, rarely, severe allergic reactions.Itraconazole (Sporanox®)
Itraconazole is a triazole antifungal agent often used for long-term prophylaxis against fungal infections, especially Aspergillus. It blocks ergosterol synthesis in fungal cell membranes, stopping growth. It can be given as capsules or oral solution, once or twice daily, with dosing guided by blood levels. Side effects include nausea, liver test changes, and serious drug interactions, especially with heart disease.Posaconazole (Noxafil®)
Posaconazole is a newer broad-spectrum triazole antifungal used to prevent invasive fungal infections in severely immunocompromised patients and sometimes in CGD. It interferes with fungal cell membrane formation. It can be given as delayed-release tablets, oral suspension, or IV, using loading doses then daily maintenance. Side effects include liver enzyme elevation and gastrointestinal upset; careful monitoring is needed.Voriconazole
Voriconazole is another triazole antifungal used to treat established invasive aspergillosis and other serious fungal infections. It blocks ergosterol synthesis, similar to other azoles. It is usually given twice daily, orally or IV, with dosing monitored by blood levels. Side effects may include visual disturbances, photosensitivity, liver toxicity, and many drug interactions, so close specialist follow-up is required.Amphotericin B (conventional or lipid formulations)
Amphotericin B is a powerful IV antifungal used for life-threatening infections. It binds to ergosterol in fungal membranes, creating pores that cause cell death. Conventional formulations can damage kidneys and cause infusion reactions; lipid forms are often better tolerated. Treatment is usually daily for weeks, in hospital, with careful monitoring of kidney function, electrolytes, and blood counts.Ceftriaxone
Ceftriaxone is a broad-spectrum third-generation cephalosporin antibiotic often used for serious bloodstream, lung, or abdominal infections. It blocks bacterial cell wall synthesis and is given once or twice daily by IV or intramuscular injection. Side effects can include diarrhea, allergic reactions, and gallbladder “sludge,” so clinical and lab monitoring is important.Piperacillin-tazobactam
This combination of a penicillin-type antibiotic and a beta-lactamase inhibitor covers many Gram-negative and some anaerobic bacteria. It is commonly used in hospital to treat severe abdominal, lung, or soft-tissue infections. It is given as IV infusions several times per day. Side effects may include rash, diarrhea, and changes in kidney function.Meropenem
Meropenem is a carbapenem antibiotic with very broad coverage, often reserved for severe or resistant infections. It blocks cell wall synthesis and is given IV every 8 hours, adjusted for kidney function. It is especially useful when previous antibiotics have failed or resistant organisms are suspected. Side effects include diarrhea, headache, and, rarely, seizures at high doses or in kidney failure.Vancomycin
Vancomycin is used to treat serious Gram-positive infections, including MRSA. It blocks cell wall synthesis and is given IV, with doses adjusted based on blood levels and kidney function. It is important in CGD patients with severe skin, bone, or bloodstream infections from resistant staphylococci. Side effects include kidney toxicity and “red man syndrome” if infused too quickly.Linezolid
Linezolid is an oxazolidinone antibiotic active against many Gram-positive bacteria, including some that resist vancomycin. It blocks protein synthesis and can be given orally or IV, usually twice daily. It is especially helpful for difficult skin and lung infections. Long courses may cause low blood counts or nerve damage, so careful monitoring is required.Levofloxacin
Levofloxacin is a fluoroquinolone antibiotic that covers many Gram-negative and some Gram-positive bacteria and is sometimes used for targeted respiratory or urinary infections. It blocks bacterial DNA replication. It is usually given once daily, orally or IV. Side effects include tendon problems, heart rhythm changes, and effects on blood sugar, so it is used thoughtfully.Azithromycin
Azithromycin is a macrolide antibiotic with good tissue penetration and long half-life, sometimes used for specific respiratory or atypical infections. It blocks bacterial protein synthesis and is commonly given once daily in short courses. Side effects include stomach upset and, rarely, heart rhythm changes, so doctors check for risk factors before prescribing.Clindamycin
Clindamycin is useful for skin, soft-tissue, and anaerobic infections. It inhibits bacterial protein synthesis and can be given orally or IV. It is often chosen when deep tissue or abscess infections are suspected. The main risk is C. difficile colitis, so it is used only when clearly needed and monitored closely.Metronidazole
Metronidazole targets anaerobic bacteria and certain parasites, making it helpful in some abdominal and pelvic infections. It damages microbial DNA. It can be given orally or IV two to three times daily. Side effects include metallic taste, nausea, and interactions with alcohol, so patients are told not to drink alcohol while taking it.Fluconazole
Fluconazole is a triazole antifungal often used for Candida infections of the mouth, esophagus, or bloodstream. It blocks ergosterol synthesis and is given orally or IV, once daily. Side effects include liver enzyme changes and drug interactions, but it is generally well tolerated and useful for many Candida species.Systemic corticosteroids (e.g., prednisone) for CGD colitis
Some people develop Crohn-like gut inflammation (colitis) that does not respond well to usual Crohn’s biologics. Short-term corticosteroids can reduce intestinal inflammation and relieve pain, diarrhea, and obstruction risk. Doses and tapering are carefully controlled by specialists, because long-term use can cause weight gain, bone thinning, and infection risk.Other immunosuppressants (e.g., azathioprine, methotrexate) for severe inflammation
In selected patients with difficult CGD-related inflammation, doctors may use additional immunosuppressants to control gut or other organ inflammation. These drugs reduce overactive immune responses but can increase infection risk, so they are used only under expert supervision with regular blood tests and infection prophylaxis.Peri-transplant antimicrobial regimens
For patients undergoing stem cell transplant, complex antibiotic, antifungal, and antiviral schedules are used before and after transplantation to protect against infection during extreme immunosuppression. Choices are highly individualized and follow transplant center protocols and international guidelines.Targeted, culture-guided therapy
Beyond these key medicines, the most important principle is tailoring antibiotics or antifungals to the exact germ found in cultures. Once lab results return, doctors narrow therapy to the most effective and safest drug, dose, and duration for that infection, reducing side effects and resistance.
Dietary Molecular Supplements
Vitamin D
Vitamin D supports bone health and immune regulation. Many people with chronic illness or limited sun exposure have low levels. Supplement doses are usually based on blood tests, often once daily or weekly. It may help modulate immune responses, but very high doses can cause high calcium and kidney problems, so levels must be monitored.Vitamin C
Vitamin C is an antioxidant that supports collagen formation and immune function. Moderate daily doses may help wound healing and overall health. Extremely high doses can cause stomach upset and, in some people, kidney stones, so a doctor should guide the dose rather than “megadosing.”Zinc
Zinc is important for normal immune cell development and function. Mild deficiency is common in chronic illness. Supplements are usually taken once daily with food, in doses that avoid long-term copper deficiency. Too much zinc can cause nausea and lower good cholesterol, so medical guidance is important.Omega-3 fatty acids (fish oil)
Omega-3 fats have anti-inflammatory effects and may support heart and brain health. In some chronic inflammatory conditions, they can slightly reduce inflammation markers. Typical doses are divided throughout the day with meals. Side effects can include fishy aftertaste and, at high doses, mild bleeding risk, so they should be used cautiously around surgery or anticoagulants.Probiotics
Probiotic supplements aim to support a healthier gut microbiome, which can affect immunity and digestion. Specific strains may help reduce antibiotic-associated diarrhea, but data in CGD are limited. Doses are usually daily capsules or powders. In severely immunocompromised patients, probiotics are used carefully because rare bloodstream infections from probiotic organisms have been reported.Multivitamin with minerals
A standard multivitamin can fill small gaps in diet, ensuring enough vitamins and trace minerals. It is usually taken once daily with food. It is not a replacement for a balanced diet, and “mega” high-dose formulations are unnecessary and may be harmful, particularly for fat-soluble vitamins like A and E.Folate and vitamin B12 (when deficient)
Chronic infection and some medicines can affect folate or B12 levels, leading to anemia and fatigue. Supplements are given only if blood tests show deficiency, with dose chosen by the doctor. Restoring normal levels supports red blood cell production and energy but does not directly fix the CGD defect.Iron (only if documented deficiency)
Iron is essential for hemoglobin, but excess iron can feed some bacteria. In CGD, iron is only supplemented when true iron-deficiency anemia is proven. Doses are carefully chosen and monitored. This helps energy and exercise tolerance while avoiding overload.Selenium
Selenium is part of antioxidant enzymes that protect cells from oxidative damage. Severe deficiency is rare but can affect heart and immune function. Small daily doses from diet or supplements may be considered if intake is low. High doses are toxic, causing hair loss and nail problems, so medical oversight is vital.Curcumin (turmeric extract – experimental support)
Curcumin has anti-inflammatory and antioxidant properties in lab studies. Some people use standardized extracts, but human data in CGD are limited. It may interact with medicines and affect bleeding, so any use should be discussed with the specialist team. It is better to think of it as a possible supportive measure, not a main treatment.
Immune-Boosting and Regenerative / Stem-Cell–Related Treatments
Interferon gamma-1b as an immune modulator
As noted earlier, interferon gamma-1b is a key immune-boosting drug in CGD. It enhances phagocyte killing function and reduces serious infections. It does not cure the genetic defect but improves immune performance. Regular injections and follow-up are needed to balance benefits with side effects like flu-like symptoms and possible low blood counts.Granulocyte colony-stimulating factor (G-CSF) in selected cases
G-CSF is a growth factor that stimulates the bone marrow to produce more neutrophils. In some CGD patients with very low neutrophil counts or severe infections, G-CSF may be used to temporarily raise neutrophil numbers. It is given as injections and requires close specialist supervision because unnecessary or prolonged use can cause bone pain and other side effects.Hematopoietic stem cell transplant (HSCT – bone marrow transplant)
HSCT is currently the only established curative treatment for many people with CGD. Healthy blood-forming stem cells from a matched donor are infused after the patient receives conditioning chemotherapy. Over time, donor cells repopulate the marrow and produce functioning phagocytes. HSCT can dramatically reduce infections but carries serious short- and long-term risks, so it is done in experienced centers.Gene therapy (clinical trials)
Gene therapy aims to correct the faulty gene in a patient’s own stem cells using viral vectors, then return corrected cells to the body. Early studies in CGD show promise but also risks like insertional mutagenesis and limited durability. At present, gene therapy for Quie syndrome is mainly available in research trials, not as standard care, and families should discuss pros and cons with specialists.Immunoglobulin replacement (in selected situations)
Some patients might receive intravenous or subcutaneous immunoglobulin (IVIG/SCIG) if they also have low antibody levels or specific antibody defects. This pooled antibody product gives passive protection against some infections. It is given regularly and can reduce certain infections, though it does not fix the phagocyte defect. Common side effects are headache and infusion-related discomfort.Supportive regenerative care after severe infections and surgery
After major infections, surgery, or HSCT, rehabilitation, good nutrition, and management of organ damage help the body repair itself. Physiotherapy, respiratory therapy, and careful management of scarring in lungs or gut are important. This “regenerative” approach is not one drug but a coordinated plan helping the body recover as much function as possible.
Surgeries (Main Procedures)
Surgical drainage of abscesses
Deep or large abscesses in skin, liver, or other organs may not resolve with antibiotics alone. Surgeons may open and drain the pus to reduce pressure, remove infected tissue, and let antibiotics work better. This prevents rupture and sepsis and is a common procedure in CGD care.Excision of chronically infected lymph nodes or tissue
Some lymph nodes or localized infected areas become chronically inflamed and painful. When medicines fail or complications arise, surgeons may remove these tissues. The goal is to eliminate a constant infection source and improve comfort and function.Bowel surgery for strictures or obstruction
Chronic granulomatous inflammation in the intestines can narrow segments of bowel, causing obstruction, pain, and malnutrition. If medical therapy cannot control this, surgeons may remove the diseased part or widen it. Surgery aims to relieve blockage and improve nutrition and quality of life.Lung surgery for persistent lesions
Rarely, localized lung damage such as destroyed segments or ongoing abscesses may need surgical removal. By excising the severely diseased area, doctors hope to prevent recurrent infection and improve breathing. This is only done when benefits clearly outweigh risks.Procedures related to HSCT (central line placement, marrow harvest, etc.)
Stem cell transplant involves several procedures, including placing central venous catheters, collecting donor marrow or peripheral stem cells, and sometimes biopsies to monitor engraftment. These are done in specialized centers and support the overall goal of achieving a durable cure for Quie syndrome.
Prevention Strategies
Daily prophylactic antibiotics and antifungals as prescribed
Consistent interferon gamma-1b use when recommended
Avoiding high-risk environmental exposures (soil, mulch, moldy barns)
Keeping vaccinations up to date (non-live vaccines)
Prompt evaluation of all fevers and suspicious symptoms
Good nutrition and growth monitoring to support immunity
Regular specialist follow-up and lab monitoring
Family education and written emergency plans
Careful travel planning and avoiding very remote areas without medical access
Participation in experienced centers and, when suitable, curative HSCT programs
When to See Doctors
A person with Quie syndrome should contact their doctor immediately or go to emergency care for fever (often above 38°C), chills, new cough or breathing difficulty, severe abdominal pain, vomiting, diarrhea, painful urination, new skin redness or swelling, or any rapid change in condition. These symptoms can signal serious infections that progress quickly in CGD and need urgent IV antibiotics or antifungals.
Even without urgent symptoms, regular check-ups with an immunologist or hematologist are vital. These visits allow adjustments to prophylaxis, monitoring of organ function, planning for vaccines, and discussion of options like HSCT or trials. Early contact with the team whenever something “feels wrong” is strongly encouraged.
What to Eat and What to Avoid
Eat well-cooked meats, fish, and eggs to avoid food-borne bacteria and parasites.
Choose pasteurized milk and dairy products, avoiding raw milk cheeses.
Wash fruits and vegetables thoroughly, especially if eaten raw.
Aim for a balanced diet rich in protein, whole grains, healthy fats, and a variety of colored fruits and vegetables to support healing and immunity.
Avoid raw or undercooked meats, fish (sushi), and eggs, which can carry dangerous bacteria like Salmonella or Campylobacter.
Avoid unpasteurized juices and dairy, and be cautious with street foods of uncertain hygiene.
Limit highly processed, very sugary foods and drinks, which add calories without good nutrients and may worsen weight or blood sugar control.
Drink safe, treated water; in high-risk areas, use bottled or boiled water and avoid ice from unsafe sources.
Avoid foods with visible mold and strongly mold-fermented products if advised by the medical team, to reduce fungal exposure.
Discuss any special diets or supplements with the specialist, especially if you are underweight, overweight, or have gut inflammation, so the plan fits your needs and medicines.
Frequently Asked Questions
Is Quie syndrome the same as chronic granulomatous disease?
Yes. Quie syndrome is one of the older names for chronic granulomatous disease, along with “chronic septic granulomatosis” and “Bridges–Good syndrome.” All describe the same inherited phagocyte defect causing severe bacterial and fungal infections.Can people with Quie syndrome live a normal life span?
With modern prophylactic antibiotics, antifungals, interferon gamma-1b, better intensive care, and options like HSCT, survival has improved greatly, and many patients reach adulthood and beyond. However, the risk of serious infections remains, so lifelong specialist care is needed.Is Quie syndrome contagious?
No. It is not caught from other people. It is an inherited, genetic condition affecting how certain white blood cells work. What is contagious are the infections these patients are more likely to get, which is why infection control is important.How is Quie syndrome diagnosed?
Doctors use blood tests such as the dihydrorhodamine (DHR) test to measure the “respiratory burst” of neutrophils. If this is abnormal, genetic tests look for mutations in genes coding for parts of the NADPH oxidase complex. Family history and infection patterns also help.Why are fungal infections such a big concern in CGD?
Because defective phagocytes cannot produce enough reactive oxygen species, they struggle especially with certain catalase-positive bacteria and molds, such as Aspergillus. These infections can invade the lungs, brain, and other organs, making strong prophylaxis and rapid treatment essential.Does Quie syndrome affect all parts of the immune system?
No. The main problem is the oxidative burst in phagocytes. Other immune components like antibodies and many lymphocyte functions can be normal. However, the defective phagocyte function alone is enough to cause severe disease.Is bone marrow transplant always recommended?
Not always. HSCT can be curative but carries serious risks. Doctors consider the person’s age, infection history, organ damage, donor match, and family preferences. Some patients are better managed long-term with prophylaxis and interferon gamma-1b, while others benefit from transplant.Can women be affected, or only men?
Most cases are X-linked and mainly affect boys, but autosomal recessive forms affect both sexes. Some carrier females may show mild symptoms if a high proportion of their neutrophils carry the defective X chromosome (skewed X-inactivation).Can Quie syndrome be found before birth?
In families with a known mutation, prenatal or pre-implantation genetic diagnosis may be possible. Genetic counselors and specialists can explain options, limitations, and ethical considerations to families planning future pregnancies.Are vaccines safe in Quie syndrome?
Most inactivated (non-live) vaccines are recommended and important. Some live vaccines may be used or avoided depending on the individual and local guidance. The immunology team gives a personalized vaccine plan based on risk and benefit.Can diet alone control Quie syndrome?
No. Diet and supplements can support health and healing but cannot fix the NADPH oxidase defect. Lifelong infection prophylaxis, rapid treatment of infections, and sometimes HSCT are the main pillars of management.Is gene therapy available now for Quie syndrome?
Gene therapy is still mostly in the research stage for CGD. Some early trials show promise, but there are safety concerns and limited long-term data. It may become more widely available in the future, but currently it is not standard treatment in most places.Why do some patients have gut problems like Crohn’s disease?
The same immune defect that prevents normal killing of microbes also affects how the immune system handles gut bacteria. This can lead to chronic inflammation, ulcers, and strictures in the intestines, which may look like Crohn’s disease but respond differently to treatment.Can people with Quie syndrome have pets?
Many can, with precautions. Good pet hygiene, regular vet checks, avoiding cleaning litter boxes or cages directly, and careful hand-washing after contact help reduce risk. The medical team can give specific advice for each household situation.What is the most important message for families living with Quie syndrome?
The key ideas are: prevent infections whenever possible, recognize warning signs early, follow prophylactic medicine plans, attend regular specialist visits, and consider curative options like HSCT when appropriate. With informed care and support, many people with Quie syndrome can study, work, and enjoy meaningful lives.
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 22, 2026.
Congenital Dysphagocytosis
