FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term immunodeficiency 112 ID (Ontology) DOID:0061079 (Human Disease)
Definition A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21.
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autosomal genetic disease
 |__autosomal recessive disease_____________
combined immunodeficiency                   |
 |__T cell, B cell, and NK cell deficiency__|
                                            immunodeficiency 112
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Is a autosomal recessive disease
T cell, B cell, and NK cell deficiency
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MIM:620449