Metadata | |
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ID | DOID:0061088 |
Name | immunodeficiency 122 |
Definition | A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13. https://pubmed.ncbi.nlm.nih.gov/38099988/ |
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Parent Relationships | |
Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal recessive inheritance disease has location some respiratory tract and disease has location some (disease has location some zone of skin) |