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| Term | immunodeficiency 64 | ID (Ontology) | DOID:0111980 (Human Disease) |
| 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. | ||
| Also Known As | "IMD64" | ||
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autosomal genetic disease |__autosomal recessive disease_____________ combined immunodeficiency | |__T cell, B cell, and NK cell deficiency__| immunodeficiency 64 |
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autosomal recessive disease T cell, B cell, and NK cell deficiency |
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| MIM:618534 | |||