Search Ontology:
Human Disease

immunodeficiency 64

Term ID
DOID:0111980
Synonyms
  • IMD64
Definition
A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. (3)
References
Ontology
Human Disease   ( DOID:0111980 )
Relationships
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Genes Involved
Zebrafish Models