Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (10)

Severe combined immunodeficiency in Child
Other Resources UpToDate PubMed

Severe combined immunodeficiency in Child

Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

Severe combined immunodeficiency (SCID) is a group of heterogeneous disorders with similar clinical pictures but variable defects resulting in severe dysfunction of T and B cells.

Disease occurs in 1 per 100 000 births, and slightly less than half of these are due to the X-linked form of SCID, which affects only males. The majority of cases are autosomal recessive in their inheritance. The X-linked form of SCID is due to a mutation of the common gamma chain of interleukin receptors for IL-2, 4, 7, 9, and 15. There are few to no T cells (CD3) and natural killer (NK) cells. Variable levels of B cells make nonfunctional antibodies. Two to three percent of SCID cases are caused by deficiency in the DNA-repair enzyme Artemis, resulting from mutations in DCLRE1C. Other forms of SCID have varying immunologic abnormalities, and diagnosis is made on direct gene analysis.

Failure to thrive (poor feeding and low weight gain), chronic diarrhea and infections (especially pneumonias, otitis media, and skin infections), mucocutaneous candidiasis, and skin eruptions mark the course of disease. Graft-versus-host disease (GVHD) from maternal cell engraftment occurs in about half of patients.

The average age of symptom onset is 2 months. Without therapy, death from infection usually occurs in the first 2 years of life.

Codes

ICD10CM:
D81.9 – Combined immunodeficiency, unspecified

SNOMEDCT:
31323000 – Severe Combined Immunodeficiency

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

To perform a comparison, select diagnoses from the classic differential

Subscription Required

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated:03/03/2024
Copyright © 2024 VisualDx®. All rights reserved.
Severe combined immunodeficiency in Child
A medical illustration showing key findings of Severe combined immunodeficiency : Diarrhea, Crust, Failure to thrive, Hypogammaglobulinemia, Fine scaly plaques
Clinical image of Severe combined immunodeficiency - imageId=2406656. Click to open in gallery.
Copyright © 2024 VisualDx®. All rights reserved.