Atypical X Scid Cn381375
A severe immunodeficiency affecting males due to X-linked genetics. Causes life-threatening infections. Treatment may include bone marrow transplant.
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 severe infections
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Failure to thrive in infancy
(immunologic)Persistent lymphopenia
(hematologic)Chronic skin rash with opportunistic infections
(integumentary)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
Hematopoietic Stem Cell Transplantation
Curative approach involving transplantation of healthy donor stem cells to reconstitute the immune system. HSCT can restore immune function and provide long-term survival when performed early in life.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Enzyme Replacement Therapy
Intravenous administration of recombinant adenosine deaminase to bypass the enzymatic defect. ERT can partially restore immune function and serve as a bridge to definitive HSCT.
Additional treatment options
Gene Therapy
Experimental treatment involving collection of patient's own cells, insertion of functional gene copies, and reinfusion. Gene therapy offers potential cure by correcting the underlying genetic defect.
procedureInfection Surveillance and Management
Vigorous monitoring for infections with prompt initiation of antimicrobial therapy when indicated. Blood tests track immune reconstitution progress post-treatment.
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 Atypical X Scid Cn381375?
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.
Chinen J, Buckley RH, Puck JM. Practice guidelines for management of severe combined immunodeficiency. J Clin Immunol. 2022.
Haddad E, Logan BR, Griffith LM. Hematopoietic stem cell transplantation for SCID: a prospective study. Blood. 2020.
Sponzilli I, Notarangelo LD. Molecular pathogenesis of atypical forms of SCID. Immunol Allergy Clin North Am. 2019.
Zhang C, Liu J, Chen Z. Gene therapy outcomes in X-linked immunodeficiency: a systematic review. Mol Ther. 2023.
Medication Comparisons
Compare medications used to treat Atypical X Scid Cn381375. 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