ZFIN Human Disease: immunodeficiency 22

OBO ID: DOID:0111937

Term Name:	immunodeficiency 22		Search Ontology:
Synonyms:	IMD22 SCID due to LCK deficiency SCID due to lymphocyte-specific protein tyrosine kinase deficiency severe combined immunodeficiency due to LCK deficiency severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
Definition:	A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. https://pubmed.ncbi.nlm.nih.gov/9664084/
References:	NCI:C176808 OMIM:615758 ORDO:280142 UMLS_CUI:C4014233
Ontology:	Human Disease ( DOID:0111937 )

Relationships

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

OTHER immunodeficiency 22 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LCK	lck	Immunodeficiency 22	615758

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None