ZFIN Human Disease: immunodeficiency 62

OBO ID: DOID:0111991

Term Name:	immunodeficiency 62		Search Ontology:
Synonyms:	IMD62
Definition:	A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. https://pubmed.ncbi.nlm.nih.gov/30521495/
References:	OMIM:618459 UMLS_CUI:C5193109
Ontology:	Human Disease ( DOID:0111991 )

Relationships

is a type of:	autosomal recessive disease B cell deficiency autosomal recessive disease B cell deficiency Show first 5 Terms

OTHER immunodeficiency 62 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ARHGEF1	arhgef1a arhgef1b	?Immunodeficiency 62	618459

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None