ZFIN Human Disease: immunodeficiency with hyper-IgM type 2

OBO ID: DOID:0060758

Term Name:	immunodeficiency with hyper-IgM type 2		Search Ontology:
Synonyms:	activation-induced cytidine deaminase deficiency AID deficiency HIGM2 hyper-IgM syndrome type 2
Definition:	A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. https://www.ncbi.nlm.nih.gov/pubmed/11007475
References:	GARD:10578 NCI:C129074 OMIM:605258 ORDO:101089 UMLS_CUI:C1720956
Ontology:	Human Disease ( DOID:0060758 )

Relationships

is a type of:	autosomal recessive disease hyper IgM syndrome autosomal recessive disease hyper IgM syndrome Show first 5 Terms

OTHER immunodeficiency with hyper-IgM type 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AICDA	aicda	Immunodeficiency with hyper-IgM, type 2	605258

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None