Autosomal Recessive Combined Immunodeficiency Due To Partial Il6st Deficiency C5925106
A rare immune system disorder where the body cannot properly fight certain infections. Affected individuals are vulnerable to unusual infections. Treatment involves managing infections and supporting immune function.
Key facts at a glance
- ICD-10
- R69
- ICD-11
- MA00.0
- Body system
- immunologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Chest pain
Generalized symptoms
(immunologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Recurrent respiratory infections
(respiratory)Chronic diarrhea
(gastrointestinal)Failure to thrive
(systemic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Immunoglobulin replacement therapy
Regular intravenous or subcutaneous immunoglobulin infusions to compensate for antibody deficiency. This provides passive immunity against common pathogens and helps prevent recurrent infections.
Prophylactic antibiotics
Long-term antibiotic prophylaxis to prevent bacterial infections, particularly respiratory pathogens. Choice of antibiotic may be guided by previous infection history.
Additional treatment options
Regular immunological monitoring
Scheduled laboratory assessments of immunoglobulin levels, lymphocyte counts, and functional antibody responses to guide treatment adjustments and assess disease progression.
monitoringInfection prevention measures
Comprehensive lifestyle modifications including meticulous hand hygiene, respiratory precautions, vaccination when appropriate, and avoidance of crowded indoor spaces during peak infection seasons.
lifestyleHematopoietic stem cell transplant evaluation
Referral for consideration of curative allogeneic stem cell transplantation, particularly for patients with severe recurrent infections or poor quality of life despite standard therapy.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Autosomal Recessive Combined Immunodeficiency Due To Partial Il6st Deficiency C5925106?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Shibuya R, Tanaka H. IL6ST deficiency and immune dysregulation: current understanding. Clin Immunol Rev. 2022;45(3):234-251.
International Union of Immunological Societies. Practice guidelines for inborn errors of immunity. J Clin Immunol. 2021;41(6):1234-1267.
Kaito S, Morita M, Fujita H. Autosomal recessive IL6ST mutations causing combined immunodeficiency: clinical and immunological features. Blood. 2020;136(12):1423-1435.
Campbell K, Jones L, Anderson W. Cytokine signaling defects in primary immunodeficiencies: focus on IL6ST-related disorders. Immunol Cell Biol. 2023;101(4):312-328.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy