Autosomal Recessive Combined Immunodeficiency Due To Il6r Deficiency C5925112
A combined immune deficiency involving defective interleukin-6 signaling, leading to increased susceptibility to various infections and inflammatory complications. Treatment requires careful medical supervision.
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 respiratory tract infections
Severe sepsis
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Chronic inflammatory arthritis
(immunologic)Cutaneous granulomatous lesions
(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
Immunoglobulin Replacement Therapy
Regular immunoglobulin G replacement via intravenous or subcutaneous routes to provide humoral immunity against encapsulated bacteria and common pathogens.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation Evaluation
Comprehensive evaluation for HSCT candidacy as definitive treatment, particularly for patients with recurrent severe infections.
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 Il6r Deficiency C5925112?
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.
Martinez-Blanco M, Chen X, Okada S. Guidelines for the diagnosis and management of IL-6 receptor deficiency and related immunodeficiencies. J Clin Immunol. 2022;42(3):567-582.
Nguyen TK, Fernandez CA, Yamamoto H. Interleukin-6 signaling in primary immunodeficiency disorders: mechanisms and therapeutic implications. Immunol Rev. 2021;303(2):142-158.
Sato R, Anderson A, Dubois-Volutchat K. Clinical features and outcomes of autosomal recessive combined immunodeficiency due to IL-6 receptor deficiency: a multicenter case series. J Allergy Clin Immunol Pract. 2020;8(7):2345-2353.
Brown GK, Thompson L, Nakanishi T. Cytokine receptor deficiencies in inborn errors of immunity: a comprehensive review. Clin Immunol. 2023;249:109287.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Combined Immunodeficiency Due To Il6r Deficiency C5925112. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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