Immunodeficiency 14b Autosomal Recessive C5543301
An inherited immune deficiency passed through autosomal recessive genes, affecting the body's normal immune defenses. Treatment focuses on infection prevention, immune support, and ongoing specialist care.
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.
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Recurrent viral infections
(immunologic)Pulmonary infections
(respiratory)Low lymphocyte count
(immunologic)Chronic diarrhea
(gastrointestinal)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
Definitive curative treatment involving reconstitution of the immune system through donor stem cell infusion. Early transplantation before significant organ damage improves outcomes.
Immunoglobulin Replacement Therapy
Lifelong immunoglobulin G replacement to compensate for absent or defective antibody production. Subcutaneous administration may offer more stable levels for some patients.
Additional treatment options
Gene Therapy Evaluation
Emerging gene therapy approaches targeting the specific genetic defect. Currently available primarily through clinical trials for suitable candidates with identified mutations.
medicationInfection Prevention Protocol
Comprehensive lifestyle modifications including meticulous hand hygiene, food safety practices, respiratory precautions, and avoidance of known infection exposures in community and healthcare settings.
lifestyleImmunological and Marrow Monitoring
Regular assessment of chimerism levels post-transplant, immune reconstitution tracking, and bone marrow function monitoring. Includes monitoring for graft-versus-host disease signs.
monitoringWhen 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 Immunodeficiency 14b Autosomal Recessive C5543301?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication 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