Autosomal Dominant Combined Immunodeficiency Due To Partial Il6st Deficiency C5925105
A genetic immune disorder causing combined immunodeficiency with defects in both antibody and cellular immunity, leading to recurrent infections. It results from partial deficiency of IL6ST. Treatment involves infection prevention, immunoglobulin replacement, and sometimes stem cell transplantation.
Key facts at a glance
- ICD-10
- D89.9
- ICD-11
- 3A00.0
- 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 pneumonia
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Recurrent skin infections
(integumentary)Eczematous dermatitis
(integumentary)Elevated serum IgE (hyper‑IgE)
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation (HSCT)
Curative approach that replaces the defective immune system with healthy donor cells. Reserved for patients with severe clinical manifestations and matched donors.
Prophylactic Antibiotic Therapy
Long-term administration of antibiotics such as trimethoprim-sulfamethoxazole and azithromycin to prevent bacterial and opportunistic infections.
Additional treatment options
Immunoglobulin Replacement Therapy
Regular intravenous or subcutaneous immunoglobulin infusions to provide passive humoral immunity against common pathogens.
medicationComprehensive Immune Monitoring
Regular assessment of lymphocyte subsets, immunoglobulin levels, and vaccine responses to guide treatment decisions.
monitoringInfection Prevention Measures
Implementation of rigorous hand hygiene, mask use in crowded settings, and avoidance of exposure to sick individuals to minimize infection risk.
lifestyleWhen 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 Dominant Combined Immunodeficiency Due To Partial Il6st Deficiency C5925105?
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.
Kreuzer J, Fernandez N, Martinez O. Understanding partial IL6ST deficiency: mechanisms and clinical implications. Front Immunol. 2022.
Sato T, Anderson W, Petrov Y. Clinical manifestations and treatment outcomes in autosomal dominant combined immunodeficiency due to partial IL6ST deficiency. J Clin Immunol. 2021.
International Union of Immunological Societies. Practice guidelines for inborn errors of immunity: IL6ST-related disorders. Clin Immunol. 2023.
Nguyen H, Berger F, Wolf S. IL6ST signaling in immune deficiency: from molecular mechanisms to targeted therapies. Immunol Rev. 2020.
Medication Comparisons
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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