Search Ontology:
Human Disease

immunodeficiency 55

Term ID
DOID:0111993
Synonyms
  • combined immunodeficiency due to GINS1 deficiency
  • IMD55
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. https://pubmed.ncbi.nlm.nih.gov/28414293/
References
Ontology
Human Disease   ( DOID:0111993 )
Relationships
is a type of
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Genes Involved
Zebrafish Models