ZFIN Human Disease: immunodeficiency 23

OBO ID: DOID:0111953

Term Name:	immunodeficiency 23		Search Ontology:
Synonyms:	CID due to PGM3 deficiency combined immunodeficiency due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation
Definition:	A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. (2)
References:	GARD:4331 NCI:C126339 OMIM:615816 ORDO:443811 SNOMEDCT_US_2023_03_01:1187623009 UMLS_CUI:C4014371
Ontology:	Human Disease ( DOID:0111953 )

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 23 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PGM3	pgm3	Immunodeficiency 23	615816

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None