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Metadata
ID DOID:0111980
Name 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.
https://pubmed.ncbi.nlm.nih.gov/29282224/, https://pubmed.ncbi.nlm.nih.gov/29155103/, https://pubmed.ncbi.nlm.nih.gov/27776107/
Xrefs

MIM:618534

Synonyms

IMD64 [EXACT]

Parent Relationships

is_a T cell, B cell, and NK cell deficiency

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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