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Combined immunodeficiency due to GINS1 deficiency

Disease definition

A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism.


Classification level: Disorder
  • Synonym(s):
    • CID due to GINS1 deficiency
    • Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia
    • Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: D81.8
  • OMIM: 617827
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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