Metadata | |
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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 | |
Synonyms |
IMD64 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |