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

• OMIM:618534

Ontology

Human Disease   ( DOID:0111980 )