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

• OMIM:617827
• ORDO:505227

Ontology

Human Disease   ( DOID:0111993 )