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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 CARMIL2 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

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

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