ZFIN Human Disease: immunodeficiency 71

OBO ID: DOID:0112004

Term Name:	immunodeficiency 71		Search Ontology:
Synonyms:	IMD71 immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia platelet abnormalities with eosinophilia and immune-mediated inflammatory disease PLTEID
Definition:	A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. https://pubmed.ncbi.nlm.nih.gov/30254128/
References:	OMIM:617718
Ontology:	Human Disease ( DOID:0112004 )

Relationships

is a type of:	autosomal recessive disease combined immunodeficiency autosomal recessive disease combined immunodeficiency Show first 5 Terms

OTHER immunodeficiency 71 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ARPC1B	arpc1b	Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia	617718

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None