Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 55
DOID:0111993
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 55

Definition
A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21.
Synonyms
  • combined immunodeficiency due to GINS1 deficiency
  • IMD55
Cross References
Parent Terms
Child Terms
None
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