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GTR Home > Conditions/Phenotypes > Combined immunodeficiency due to ZAP70 deficiency

Combined immunodeficiency due to ZAP70 deficiency

Synonyms
Immunodeficiency 48; Severe combined immunodeficiency, atypical
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: ZAP70-Related Combined Immunodeficiency
ZAP70-related combined immunodeficiency (ZAP70-related CID) is a cell-mediated immunodeficiency caused by abnormal T-cell receptor (TCR) signaling. Affected children usually present in the first year of life with recurrent bacterial, viral, and opportunistic infections, diarrhea, and failure to thrive. Severe lower-respiratory infections and oral candidiasis are common. Affected children usually do not survive past their second year without hematopoietic stem cell transplantation (HSCT).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Kelly Walkovich
Mark Vander Lugt
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Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADMIO2, IMD48, SRK, STCD, STD, TZK, ZAP-70, ZAP70
    Summary: zeta chain of T cell receptor associated protein kinase 70

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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