Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Disease Synonyms 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 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 ORPHA code 505227 OMIM code 617827 ICD10 code D81.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl