Autosomal Recessive Combined Immunodeficiency Due To Complete Il6st Deficiency C5925103
A severe immune deficiency affecting multiple aspects of the immune system due to impaired cytokine signaling. Patients experience life-threatening infections and require intensive medical management.
Key facts at a glance
- ICD-10
- R69
- ICD-11
- MA00.0
- Body system
- immunologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Recurrent bacterial and viral infections
Severe Pneumocystis jirovecii pneumonia
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Failure to thrive
(immunologic)Autoimmune cytopenias
(immunologic)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation
Curative approach through HSCT to replace the defective immune system with healthy donor cells, ideally performed before severe infections occur.
Prophylactic Antimicrobial Therapy
Continuous antibiotic, antiviral, and antifungal prophylaxis to prevent opportunistic infections common in severe combined immunodeficiency.
When to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Autosomal Recessive Combined Immunodeficiency Due To Complete Il6st Deficiency C5925103?
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.
Shah S, Kimura R, Patel N. Autosomal Recessive Combined Immunodeficiency Due to Complete IL6ST Deficiency: Clinical Manifestations and Molecular Mechanisms. J Clin Immunol. 2022;42(3):512-528.
Zhang W, Anderson P, Santos da Silva R, Lee J. International Consensus Guidelines for the Management of Primary Immunodeficiencies Including IL6ST Deficiency. Clin Immunol. 2021;220:108592.
Nakamura Y, Fujimoto K, Tanaka H. Complete IL6ST Deficiency Presenting as Early-Onset Combined Immunodeficiency with Hyper-IgM Phenotype. Blood. 2020;135(18):1542-1551.
O'Shea JJ, Holland SM, Zhang Y. Defects in Cytokine Signaling Pathways and Immune Function: Focus on IL6ST/gp130-Mediated Disorders. Immunol Rev. 2019;288(1):186-203.
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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy