Autoimmune Lymphoproliferative Syndrome (ALPS) with Recurrent Viral Infections

Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic immune system disease where old or damaged immune cells do not die when they should. Because these cells do not die, they build up in the body and make the lymph nodes, spleen, and sometimes the liver big. Many patients also get autoimmune problems that destroy their own blood cells, such as anemia (low red cells), low platelets, or low neutrophils. Children usually show symptoms early in life. People with ALPS may also have a higher risk of lymphoma later on. The main cause is a change (mutation) in the FAS pathway (often the FAS gene), which controls normal immune-cell death. Recurrent viral infections, like repeated or hard-to-clear Epstein–Barr virus (EBV), can happen because the immune system is unbalanced and crowded with the wrong kinds of T cells, making infection control less effective. PMC+4PMC+4NCBI+4

In a healthy body, immune cells grow, fight germs, and then die at the right time. The FAS pathway is one of the key “off switches” that tells used immune cells to die. In ALPS, changes in FAS (or related genes like FASL, CASP10) break this off switch. As a result, special T cells called “double-negative T cells” (DNTs) build up. These cells and other immune signals push the immune system to attack the body’s own blood cells and to make lymph nodes and the spleen big. This same failure can also make it harder to control some viruses (for example, EBV), and over many years it can raise the risk of lymphoma. Frontiers+3NCBI+3PMC+3

Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited problem of the immune system in which certain white blood cells (lymphocytes) do not die when they should. Because these cells “refuse” to switch off, they build up in the body and make the lymph nodes, spleen, and sometimes the liver get bigger. The same immune cells can also mistakenly attack the person’s own blood cells, causing anemia, low platelets, or low neutrophils (these are called “autoimmune cytopenias”). Some people with ALPS also have recurrent viral infections, especially with common herpes-family viruses like Epstein–Barr virus (EBV) or cytomegalovirus (CMV). The basic reason is a fault in the “cell death” (apoptosis) pathway, most often involving the FAS signal. This pathway normally tells used or harmful lymphocytes to die. When it fails, too many abnormal T cells—especially a subset called double-negative T cells (they lack both CD4 and CD8 markers)—accumulate and misbehave. Over a lifetime, there is also a higher risk of lymphoma compared with the general population. PMC+3NCBI+3MedlinePlus+3

Importantly, recurrent viral infections are not universal in ALPS, but they can occur for several reasons: the underlying immune dysregulation; depletion of normal B cells or antibodies after certain treatments (e.g., rituximab); removal of the spleen in the past; or coinfections/viral reactivations such as EBV or CMV that “take advantage” of the disordered immune system. Frontiers+3PMC+3PMC+3

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Another names

• ALPS (autoimmune lymphoproliferative syndrome) ASH Publications

• FAS-related ALPS (historically “ALPS-Ia”) when caused by FAS gene variants; somatic FAS ALPS when only some cells carry the variant NCBI

• FASL-related ALPS (FASLG gene) and CASP10-related ALPS (caspase-10) NCBI

• ALPS-U (ALPS of undetermined genetic cause) NCBI

• ALPS-like disorders (conditions with very similar features): FADD deficiency, RAS-associated autoimmune leukoproliferative disease (RALD; NRAS/KRAS), and CASP8 deficiency (which classically gives combined immunodeficiency with infections but may overlap) PMC+1

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Types

Doctors classify ALPS by the gene involved and by whether the variant is in all cells (germline) or only in some cells (somatic/mosaic):

1. ALPS-FAS (germline FAS variants): the most common form; classic ALPS picture. NCBI

2. ALPS-sFAS (somatic/mosaic FAS): only a subset of lymphocytes carry the FAS variant; can look identical clinically. NCBI

3. ALPS-FASLG: variants in FAS ligand (the “key” that turns on FAS). NCBI

4. ALPS-CASP10: variants in caspase-10, a downstream apoptosis enzyme. NCBI

5. ALPS-U (undetermined): clinical/lab features of ALPS but no gene found yet. NCBI

6. ALPS-like conditions:

   • FADD deficiency (adaptor protein in apoptosis)

   • RAS-associated autoimmune leukoproliferative disease (RALD) due to NRAS/KRAS variants

   • CASP8 deficiency (immunodeficiency with recurrent infections; overlaps with lymphoproliferation)
     These sit in the broader umbrella of Inborn Errors of Immunity (IEI). PMC+2PMC+2

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Causes

Below are root causes and risk amplifiers. Each item explains the “why” in plain English.

1. Germline FAS gene variants: break the main “self-destruct” signal in lymphocytes; cells that should die persist and cause lymph node/spleen enlargement and autoimmunity. NCBI

2. Somatic (mosaic) FAS variants: when only some immune cells carry the error; clinical picture can mirror classic ALPS. NCBI

3. FASLG (FAS ligand) variants: the “signal key” is faulty, so FAS cannot be triggered effectively. NCBI

4. CASP10 variants: block an enzyme that executes the cell-death program, again leading to cell build-up. NCBI

5. Defects in related apoptosis molecules (ALPS-like), e.g., FADD: the message to die is not passed along. PMC

6. CASP8 deficiency: not classic ALPS, but overlapping; causes immune dysregulation and recurrent infections because activation and death signals are both disturbed. PMC

7. RALD (NRAS/KRAS variants): causes chronic lymphocyte expansion and autoimmune blood problems that can mimic ALPS. PMC

8. Persistent EBV infection/reactivation: EBV infects B cells and can expand abnormal T cells; in ALPS the control is weaker, so recurrent or difficult EBV problems may appear. PMC

9. CMV infection/reactivation: CMV can be more severe or prolonged in patients with apoptosis defects. PMC

10. Hypogammaglobulinemia in some cases or after therapy (e.g., rituximab): fewer protective antibodies make viruses easier to catch. PMC

11. Splenectomy (historical practice): removing the spleen increases infection risk lifelong; modern guidance advises avoiding splenectomy when possible in ALPS. Frontiers+1

12. Intensive immunosuppression (e.g., rituximab): can increase viral complications in ALPS more than in other disorders; it’s now generally avoided or used last. PMC

13. Neutropenia (autoimmune): low neutrophils reduce the first-line defense against infections. NCBI

14. Chronic lymphadenopathy with abnormal “double-negative T cells” (DNTs): these cells are expanded and dysfunctional, which contributes to immune imbalance. PMC

15. Genetic mosaicism/variable penetrance: milder signals may delay diagnosis, allowing infections to recur before the root cause is found. NCBI

16. Coexisting inborn errors of immunity: some families may have more than one immune gene variant, compounding risk. (Inferred from IUIS series). PMC

17. Environmental viral exposure (household/school outbreaks): any immune imbalance increases the “take rate” of these common viruses; the baseline risk is amplified. (Public-health principle; contextualized by EBV/CMV reports in ALPS.) PMC+1

18. Delayed vaccinations or gaps in vaccine-induced protection (where appropriate vaccines exist), leaving more doors open to some viruses. (General principle in primary immunodeficiency education.) Primary Immune

19. Therapy-related lymphocyte redistribution (e.g., steroids): short-term benefit for autoimmunity, but can temporarily lower antiviral defenses. PMC

20. Evolving IEI landscape: new genes in the apoptosis/immune-regulation pathways continue to be recognized; some present with ALPS features plus infections. wp-iuis.s3.eu-west-1.amazonaws.com

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 Symptoms

1. Painless, persistently enlarged lymph nodes in the neck, armpits, or groin. NCBI+1

2. Big spleen (splenomegaly) and sometimes big liver (hepatomegaly). People may feel “full” early or have left-sided discomfort. NCBI

3. Recurrent fevers during viral episodes or autoimmune flares. Medscape

4. Easy bruising, nosebleeds, or petechiae from autoimmune low platelets (ITP). NCBI

5. Pallor, tiredness, shortness of breath from autoimmune hemolytic anemia (AIHA). NCBI

6. Frequent or prolonged viral infections (e.g., EBV/“mono”, CMV, shingles/HSV), sometimes more severe or lingering. PMC+1

7. Mouth ulcers or sore throat with swollen nodes. Medscape

8. Recurrent infections after certain treatments (e.g., rituximab) due to lowered antibodies. PMC

9. Abdominal discomfort from enlarged spleen or liver. NCBI

10. Night sweats or weight loss—important to evaluate because ALPS carries a lymphoma risk over time. NCBI

11. Skin rashes linked to autoimmune activity. Medscape

12. Bone pain or discomfort when marrow is “working overtime” during cytopenia recovery. Medscape

13. Frequent fatigue and reduced stamina from anemia or chronic inflammation. Medscape

14. Fullness after small meals from big spleen pressing on the stomach. NCBI

15. Occasional jaundice (yellow eyes/skin) during autoimmune red-cell destruction. NCBI

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Diagnostic tests

A) Physical examination

1. Whole-body lymph node check: the doctor gently feels neck, armpits, and groin for enlarged nodes. Persistent, non-tender enlargement supports lymphoproliferation. NCBI

2. Liver and spleen size (palpation/percussion): helps document hepatosplenomegaly at the bedside; serial exams show trends over time. NCBI

3. Skin and mucosa inspection: looks for bruising, petechiae, pallor, jaundice, ulcers—clues to autoimmune cytopenias or infection. Medscape

4. Vital signs and growth parameters: fever curves and weight trends help separate infection flares from autoimmune flares. Medscape

B) “Manual” clinical assessments

5. Spleen tip measurement and serial node mapping: simple bedside tracking over visits; documents response to treatment. NCBI

6. Performance/energy scales (clinical scoring): practical way to track fatigue from anemia or chronic inflammation. Medscape

7. Bleeding assessment (nosebleed frequency, bruising diary): helps judge platelet autoimmunity impact and treatment need. NCBI

C) Laboratory and pathological tests

8. Complete blood count (CBC) with reticulocyte count: detects anemia, neutropenia, thrombocytopenia; retic count shows marrow response in hemolysis. NCBI

9. Direct antiglobulin (Coombs) test: confirms autoimmune hemolysis when positive. NCBI

10. Peripheral smear review: looks for hemolysis signs or atypical lymphocytes. Medscape

11. Flow cytometry for “double-negative T cells” (DNTs): hallmark increase in CD3+ TCRαβ+ CD4– CD8– cells supports ALPS. PMC+1

12. FAS pathway biomarkers: soluble FAS ligand (sFASL), IL-10, IL-18, vitamin B12 often elevated in ALPS and can support the diagnosis. NCBI

13. Apoptosis (FAS-induced cell-death) assay: functional test showing lymphocytes fail to die when FAS is triggered. ASH Publications

14. Viral studies during infections: EBV and CMV PCR/serology help confirm reactivation or primary infection driving fevers or cytopenia flares. PMC+1

15. Quantitative immunoglobulins and vaccine titers: screen for low antibodies (can be therapy-related) that raise infection risk. PMC

16. Genetic testing (targeted panels or exome): looks for variants in FAS, FASLG, CASP10, and ALPS-like genes (e.g., FADD, NRAS/KRAS, CASP8). Somatic mosaicism may require testing sorted cell subsets. NCBI+1

D) Imaging tests

17. Ultrasound of abdomen: safe way to measure spleen/liver size and watch changes over time. Medscape

18. Ultrasound of peripheral nodes: helps characterize nodes without radiation. Medscape

19. CT or MRI (selected cases): used when nodes are deep or when lymphoma is suspected; balances detail with radiation exposure (MRI avoids radiation). NCBI

20. PET-CT (selected cases): if there are “B” symptoms or fast-growing nodes; helps identify areas that might need biopsy to rule out lymphoma. NCBI

Note on electrodiagnostic tests: ALPS does not require nerve or muscle electrodiagnostic studies; diagnosis relies on clinical features, immunophenotyping, biomarkers, genetics, and imaging. I’m including this note because your requested template lists “Electrodiagnostic,” but in ALPS they are generally not applicable.

Non-Pharmacological Treatments (Therapies & Others)

(Each item includes description, purpose, and mechanism in simple words.)

1. Education & Care Plan
   You and your family learn what ALPS is, what signs to watch, and how to act early if there is fever, bleeding, or severe tiredness. A written plan explains when to call the doctor, when to go to the hospital, and which medicines are safe or not. Purpose: safer day-to-day care. Mechanism: quick action reduces harm from infections or bleeding. Medscape

2. Infection-prevention habits
   Frequent handwashing, masks during outbreaks, and staying away from sick contacts lower the chance of catching viruses and bacteria when immunity is off-balance. Purpose: fewer infections. Mechanism: cuts germ exposure at the source. Medscape

3. Vaccination review (with specialist)
   Keep non-live vaccines up to date (pneumococcal, influenza, COVID-19). Avoid live vaccines while on significant immunosuppression. Purpose: prevent severe vaccine-preventable disease. Mechanism: trains the immune system safely. Decisions must be individualized by your hematology/immunology team. Medscape

4. Fever action plan
   Have a thermometer, know your threshold for urgent care, and keep contacts for your doctor. Purpose: treat infections fast. Mechanism: early evaluation prevents complications. Medscape

5. Nutrition support
   Balanced diet rich in protein, fruits, and vegetables supports healing and blood formation. If there is true deficiency (like iron, B12, folate), a clinician replaces it. Purpose: optimize blood counts and energy. Mechanism: supplies building blocks for healthy cells. Medscape

6. Dental and mouth care
   Good brushing, flossing, and dental checks reduce mouth sores and infections that can be serious when white cells or platelets are low. Purpose: lower infection and bleeding risk. Mechanism: reduces bacterial load in the mouth. Medscape

7. Activity with pacing
   Gentle daily activity helps energy and mood, but avoid contact sports when the spleen is large or platelets are low. Purpose: safe fitness. Mechanism: movement improves stamina without bleeding risk. Medscape

8. Splenic safety
   If the spleen is enlarged, use seat belts correctly, avoid abdominal trauma, and seek care after any blow to the left upper abdomen. Purpose: prevent splenic rupture. Mechanism: reduces mechanical injury. Medscape

9. Sun and skin care
   Protect skin if rashes or vasculitis occur. Purpose: reduce flares and infections through broken skin. Mechanism: barrier protection lowers inflammation and germs. Genetic & Rare Diseases Info Center

10. Psychosocial support
    Counseling, school accommodations, and peer groups lower stress, improve adherence, and support family well-being. Purpose: better quality of life. Mechanism: mental health support improves outcomes. Medscape

11. Environmental hygiene
    Clean high-touch surfaces and use safe food handling. Purpose: fewer gastrointestinal and respiratory infections. Mechanism: lowers pathogen exposure. Medscape

12. Travel planning
    Carry medical summaries and know where to get urgent care; update vaccines before travel. Purpose: safe travel. Mechanism: rapid access to care reduces risk. Medscape

13. Genetic counseling
    Explains inheritance, family testing, and reproductive options. Purpose: informed family decisions. Mechanism: clarifies FAS-pathway genetics. NCBI

14. School/work communication
    Provide written plans for teachers/employers about fatigue, infection risk, or clinic visits. Purpose: safety and flexibility. Mechanism: reduces exposure and stress. Medscape

15. Home thermometer & oximeter
    Monitor fever and oxygen during respiratory infections. Purpose: earlier triage. Mechanism: objective data prompts timely care. Medscape

16. All-medications list & alerts
    Keep a current list, especially if on immune-modifying drugs. Purpose: prevents interactions. Mechanism: coordinated care among providers. Medscape

17. Bone health basics
    If you use steroids at times, ensure calcium, vitamin D, and weight-bearing activity per clinician advice. Purpose: protect bones. Mechanism: supports bone remodeling. Medscape

18. Bleeding precautions
    Soft toothbrush, electric razor; avoid NSAIDs if platelets are low unless doctor approves. Purpose: lower bleeding risk. Mechanism: protects fragile mucosa. Medscape

19. Infection “shielding” during outbreaks
    Temporarily reduce crowded indoor time when community viral rates spike. Purpose: avoid triggers. Mechanism: less exposure = fewer infections. Medscape

20. Regular specialist follow-up
    Hematology/immunology visits to track lymph nodes, spleen size, blood counts, and lymphoma risk over time. Purpose: early detection and treatment. Mechanism: ongoing monitoring improves outcomes. PMC+1

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Drug Treatments

1. Prednisone / Prednisolone (corticosteroid)
   Class: Glucocorticoid. Dose/Time: Short courses for flares; taper as advised. Purpose: Quickly control autoimmune cytopenias and inflammation. Mechanism: Broad anti-inflammatory and immunosuppressive action. Side effects: High sugar, mood changes, infection risk, bone thinning with long use. Medscape

2. Sirolimus (rapamycin; mTOR inhibitor)
   Class: mTOR inhibitor. Dose/Time: Oral daily under level monitoring. Purpose: Treats cytopenias and lymphoproliferation; often effective when steroids fail. Mechanism: Targets activated T cells and abnormal double-negative T cells central to ALPS biology. Side effects: Mouth sores, high lipids, infection risk; requires monitoring. PMC+1

3. Mycophenolate mofetil (MMF)
   Class: Antimetabolite immunosuppressant. Dose/Time: Oral twice daily; specialist-set dose. Purpose: Steroid-sparing control of autoimmune cytopenias. Mechanism: Inhibits lymphocyte proliferation by blocking purine synthesis. Side effects: GI upset, low white cells, infection risk. Evidence: Good responses reported in ALPS cohorts. PubMed

4. Rituximab
   Class: Anti-CD20 monoclonal antibody. Dose/Time: IV cycles for refractory immune thrombocytopenia or hemolytic anemia. Purpose: Depletes B cells making harmful antibodies. Mechanism: Targets CD20 on B cells. Side effects: Infusion reactions, infection risk, hypogammaglobulinemia. Medscape

5. IVIG (intravenous immunoglobulin)
   Class: Pooled antibodies. Dose/Time: IV intermittently for cytopenias or antibody support. Purpose: Blocks harmful autoantibodies and supports immunity. Mechanism: Immune modulation via Fc-receptor blockade and anti-idiotype effects. Side effects: Headache, aseptic meningitis, thrombosis risk (rare). Medscape

6. Azathioprine
   Class: Antimetabolite immunosuppressant. Dose/Time: Daily with TPMT/NUDT15 safety checks. Purpose: Second-line steroid-sparing option. Mechanism: Purine analog reducing lymphocyte proliferation. Side effects: Myelosuppression, liver toxicity, infections. Medscape

7. Cyclophosphamide (select cases)
   Class: Alkylating agent. Dose/Time: Pulses in severe refractory autoimmunity (specialist use). Purpose: Rescue therapy. Mechanism: Broad cytotoxic immune suppression. Side effects: Low counts, infertility risk, infections, bladder toxicity. Medscape

8. Cyclosporine
   Class: Calcineurin inhibitor. Dose/Time: Level-guided daily dosing. Purpose: Alternative immune modulation. Mechanism: Blocks T-cell activation via calcineurin. Side effects: Kidney toxicity, hypertension, tremor. Medscape

9. Tacrolimus
   Class: Calcineurin inhibitor. Dose/Time: Level-guided daily dosing. Purpose: Similar to cyclosporine where appropriate. Mechanism: Inhibits T-cell activation. Side effects: Kidney toxicity, neurotoxicity, diabetes risk. Medscape

10. Hydroxychloroquine (selected inflammatory features)
    Class: Antimalarial with immunomodulation. Dose/Time: Daily; eye checks needed. Purpose: Helps some autoimmune symptoms. Mechanism: Interferes with antigen processing and TLR signaling. Side effects: Retinopathy risk, GI upset. Medscape

11. G-CSF (filgrastim) for neutropenia
    Class: Hematopoietic growth factor. Dose/Time: Intermittent injections as directed. Purpose: Raise neutrophils to reduce infection risk. Mechanism: Stimulates marrow neutrophil production. Side effects: Bone pain, spleen enlargement (monitor). Medscape

12. Eltrombopag or Romiplostim (for severe ITP pattern)
    Class: Thrombopoietin receptor agonists. Dose/Time: Oral (eltrombopag) or weekly injection (romiplostim). Purpose: Raise platelets in refractory thrombocytopenia. Mechanism: Stimulates platelet production. Side effects: Liver tests changes (eltrombopag), thrombosis risk. Medscape

13. Antiviral therapy during proven viral illnesses (case-by-case)
    Class: Antivirals (e.g., acyclovir for HSV/VZV). Purpose: Treat specific viral infections promptly. Mechanism: Blocks viral replication. Side effects: Drug-specific; renal monitoring for some agents. Use is targeted, not chronic. Medscape

14. Antibiotics for bacterial infections (as needed)
    Class: Antibacterials. Purpose: Early treatment of confirmed/suspected bacterial infection. Mechanism: Kills or stops bacteria. Side effects: Drug-specific; watch C. difficile risk. Medscape

15. Pneumocystis prophylaxis in select patients on heavy immunosuppression
    Class: TMP-SMX or alternatives. Purpose: Prevent serious opportunistic pneumonia. Mechanism: Inhibits folate pathway in Pneumocystis. Side effects: Rash, cytopenias (monitor). Medscape

16. Ruxolitinib (research/selected refractory cases)
    Class: JAK inhibitor. Purpose: Off-label in immune dysregulation; specialist decision. Mechanism: Dampens cytokine signaling. Side effects: Cytopenias, infection risk. Medscape

17. Belimumab (rare/select)
    Class: Anti-BAFF monoclonal antibody. Purpose: For B-cell–driven autoimmunity patterns in complex cases. Mechanism: Lowers B-cell survival signals. Side effects: Infection risk. Medscape

18. Abatacept (select refractory autoimmunity)
    Class: CTLA-4–Ig fusion. Purpose: T-cell co-stimulation blockade. Mechanism: Prevents full T-cell activation. Side effects: Infection risk. Medscape

19. Short-course high-dose IV steroids for hemolysis crises
    Class: Glucocorticoid (pulse). Purpose: Rapid rescue. Mechanism: Strong immune suppression quickly. Side effects: As above; monitor closely. Medscape

20. Transition to sirolimus or MMF as steroid-sparing maintenance
    Class: mTOR inhibitor or antimetabolite. Purpose: Long-term control with fewer steroid side effects. Mechanism: Targeted immune modulation aligned to ALPS biology. Side effects: As above; lab monitoring needed. Evidence: Multiple series show strong responses, especially with sirolimus. PMC+1

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Dietary Molecular Supplements

(Use only with clinician approval; treat nutrient deficiencies if present.)

1. Vitamin D
   Dose: Per blood level/doctor advice. Function/Mechanism: Supports immune balance and bone health, important if steroids are used. Medscape

2. Folate (B9)
   Dose: Replace only if deficient. Function: Needed for red blood cell production; may help anemia due to deficiency, not autoimmune hemolysis. Medscape

3. Vitamin B12
   Dose: Guided by lab results. Function: Supports red blood cell and nerve health; correct true deficiency. Medscape

4. Iron
   Dose: Only if iron-deficiency is proven. Function: Rebuilds hemoglobin in iron-deficiency anemia; not for hemolysis alone. Medscape

5. Omega-3 fatty acids
   Dose: Typical food-based intake or supplements per clinician advice. Function: Mild anti-inflammatory effects that may help general inflammation. Medscape

6. Zinc (short-term if low)
   Dose: Avoid excess. Function: Helps normal immune function when truly deficient. Medscape

7. Vitamin C (diet-first)
   Dose: Food-based; supplement if intake is low. Function: Antioxidant support and wound healing; not a treatment for ALPS itself. Medscape

8. Probiotics (case-by-case)
   Dose: Choose products with safety data; avoid in profound neutropenia unless approved. Function: Gut-immune crosstalk; may support GI health. Medscape

9. Protein-rich foods / essential amino acids
   Dose: Dietitian-guided intake. Function: Supports marrow production and healing. Medscape

10. Multivitamin (low-dose)
    Dose: Standard daily if diet is limited. Function: Covers small gaps; not disease-specific therapy. Medscape

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Immunity-Booster / Regenerative / Stem-Cell” Therapies

1. IVIG (passive antibodies)
   Dose: Intermittent IV. Function/Mechanism: Provides pooled antibodies and modulates immunity when your own antibodies are low or harmful. Medscape

2. G-CSF (filgrastim)
   Dose: Intermittent injections. Function: “Boosts” neutrophil counts to fight infections when neutropenia is present. Medscape

3. Thrombopoietin receptor agonists (eltrombopag/romiplostim)
   Dose: As directed. Function: Stimulate platelet production in severe thrombocytopenia. Medscape

4. Sirolimus (immune re-balancer)
   Dose: Daily with levels. Function: Targets overactive/abnormal T-cell signals and DNT cells central to ALPS. PMC

5. Mycophenolate (immune modulator)
   Dose: Twice daily. Function: Reduces antibody-mediated blood cell destruction by limiting lymphocyte growth. PubMed

6. Hematopoietic Stem Cell Transplant (HSCT)
   Dose: Procedure, not a pill; considered only for very severe, refractory disease. Function: Replaces the faulty immune system with a donor’s healthy system; carries serious risks, so reserved for select cases. Medscape

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Surgeries / Procedures

1. Diagnostic lymph node biopsy
   What happens: A surgeon removes a lymph node to examine it. Why: Rule out lymphoma or other diseases when nodes are very large or unusual. Medscape

2. Splenectomy (generally avoided today)
   What happens: Removal of the spleen. Why: Historically used for severe cytopenias; now avoided if possible due to lifelong infection risk. Only considered after modern medical options fail. Medscape

3. Port/central line placement
   What happens: A small device is placed for safe repeated IV medicines. Why: Needed if frequent IVIG or other infusions are required. Medscape

4. Bone marrow examination
   What happens: Needle sample from hip bone. Why: Clarify causes of low counts and exclude other marrow diseases. Medscape

5. Hematopoietic Stem Cell Transplant (HSCT)
   What happens: Conditioning chemo, then donor stem cells. Why: Last-resort for severe, refractory ALPS; can cure immune defect but carries significant risks (infection, graft-versus-host disease). Medscape

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Prevention Tips

1. Keep vaccinations current (non-live; avoid live if immunosuppressed) per specialist plan. Medscape

2. Wash hands often; mask during outbreaks; avoid close contact with sick people. Medscape

3. Have a fever plan and act early for temperatures per your doctor’s advice. Medscape

4. See your specialist regularly to monitor lymph nodes, spleen, and blood counts. PMC

5. Protect an enlarged spleen from trauma; avoid contact sports if platelets are low. Medscape

6. Maintain good mouth and dental care to lower infection risk. Medscape

7. Use your medicines exactly as prescribed; keep a current medication list. Medscape

8. Plan travel with medical summaries and local care locations. Medscape

9. Eat a balanced diet; correct true nutrient deficiencies. Medscape

10. Learn lymphoma warning signs (rapid node growth, night sweats, weight loss) and seek care quickly. PMC

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When to See a Doctor Urgently

Go now (ER or urgent clinic) for: high fever or shaking chills; shortness of breath; confusion; severe weakness; fast, large bruises or nose/gum bleeding that will not stop; very dark urine or yellow eyes (possible hemolysis); severe belly pain on the left (spleen) or after trauma; very fast growth of lymph nodes or night sweats with weight loss. Early care prevents serious complications. Medscape+1

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What to Eat and What to Avoid

Eat a balanced plate with lean protein, whole grains, fruits, and vegetables. Drink enough water. If you have low neutrophils, follow food-safety rules (well-cooked meats/eggs, careful washing of produce). If platelets are low, avoid alcohol and non-prescribed NSAIDs that can worsen bleeding risk. Avoid raw or undercooked foods during neutropenia spikes. Correct any proven deficiencies (iron, B12, folate, vitamin D) under clinician guidance. Supplements should be discussed with your doctor to avoid interactions with immune-modifying drugs. Medscape

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Frequently Asked Questions

1. Is ALPS genetic?
   Often yes (FAS gene most common). Some cases are “somatic” (mutation only in some cells). PubMed

2. Why are my lymph nodes and spleen big?
   Immune cells that should die stay alive and collect in nodes and spleen. MedlinePlus

3. What are “double-negative T cells”?
   T cells missing CD4 and CD8; too many are a hallmark of ALPS. PMC

4. Can ALPS cause repeated viral infections (like EBV)?
   Yes, immune imbalance and crowded cell populations can make some viral infections more frequent or persistent. PMC

5. What is the long-term risk?
   There is an increased lymphoma risk; regular follow-up is important. PMC

6. Is sirolimus a common treatment now?
   Yes, it often works when steroids fail and targets ALPS biology. PMC

7. Will I need my spleen removed?
   Usually no; modern medicines reduced the need. Splenectomy is avoided if possible. Medscape

8. How is ALPS diagnosed?
   History, exam, blood tests, high DNT cells, and genetic testing. PMC

9. Do all family members need testing?
   Genetic counseling helps decide who to test. NCBI

10. What triggers hemolysis or low platelets?
    Immune system attacks blood cells; infections can trigger flares. Medscape

11. Are live vaccines allowed?
    Usually avoided during significant immunosuppression; follow specialist guidance. Medscape

12. Can diet cure ALPS?
    No. Good nutrition supports health, but ALPS needs medical care. Medscape

13. Should I worry about EBV?
    EBV can be persistent and is linked to some lymphoproliferative diseases; your team monitors for issues. PMC

14. Is HSCT a cure?
    It can potentially cure the immune defect but is reserved for the most severe cases due to risks. Medscape

15. What specialists do I need?
    Hematology and clinical immunology, with access to genetics and infectious diseases as needed. Medscape

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: September 29, 2025.

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