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Metadata
ID	DOID:0111984
Name	immunodeficiency 58
Definition	A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. https://pubmed.ncbi.nlm.nih.gov/27647349/, https://pubmed.ncbi.nlm.nih.gov/29479355/
Xrefs	OMIM:618131 ORDO:542301 UMLS_CUI:C4748304
Subsets	DO_rare_slim
Synonyms	IMD58 [EXACT] severe combined immunodeficiency due to CARMIL2 deficiency [EXACT]
Parent Relationships	is_a combined T cell and B cell immunodeficiency is_a autosomal recessive disease