ZFIN Human Disease: immunodeficiency 58

OBO ID: DOID:0111984

Term Name:	immunodeficiency 58		Search Ontology:
Synonyms:	IMD58 severe combined immunodeficiency due to CARMIL2 deficiency
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. (2)
References:	OMIM:618131 ORDO:542301 UMLS_CUI:C4748304
Ontology:	Human Disease ( DOID:0111984 )

Relationships

is a type of:	autosomal recessive disease combined T cell and B cell immunodeficiency autosomal recessive disease combined T cell and B cell immunodeficiency Show first 5 Terms

OTHER immunodeficiency 58 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CARMIL2	carmil2	Immunodeficiency 58	618131

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None