ZFIN Human Disease: immunodeficiency 46

OBO ID: DOID:0111948

Term Name:	immunodeficiency 46		Search Ontology:
Synonyms:	CID due to TFRC deficiency combined immunodeficiency due to TFRC deficiency IMD46 TFRC-related combined immunodeficiency
Definition:	A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. https://pubmed.ncbi.nlm.nih.gov/26642240/
References:	OMIM:616740 ORDO:476113 SNOMEDCT_US_2023_09_01:1179288008 UMLS_CUI:C5568133
Ontology:	Human Disease ( DOID:0111948 )

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 46 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TFRC	tfr1a tfr1b	Immunodeficiency 46	616740

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None