Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 64
DOID:0111980
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 64

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.
Synonyms
  • IMD64
Cross References
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