Open AccessA rare case of combined immunodeficiency due to a deletion of 11(q) – Jacobsen syndrome
Author(s) -
Natalia Kuzmenko,
О. А. Швец,
Anna Mukhinа
Publication year - 2020
Publication title -
voprosy gematologii/onkologii i immunopatologii v pediatrii
Language(s) - English
Resource type - Journals
eISSN - 2414-9314
pISSN - 1726-1708
DOI - 10.24287/1726-1708-2020-19-3-114-120
Subject(s) - hypertelorism , facial dysmorphism , medicine , nose , immunodeficiency , microcephaly , craniofacial , dermatology , pediatrics , anatomy , biology , genetics , phenotype , immune system , immunology , gene , psychiatry
Jacobsen syndrome (JS) is a rare combined immunodeficiency caused by partial deletion of the long arm of chromosome 11. Clinical features include physical growth retardation, psychomotor retardation, characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small low set ears). Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Abnormal platelet function and immunological problems are usually present. Here we describe a patient with deletion of 11(q) chromosome resulting in clinical phenotype of the facial dysmorphisms, congenital malformations, neurological symptoms, as well as clinical and laboratory features of immunodeficiency. Features of immune dysregulation in a patient with JS are clearly characterized. Patient's parents agreed to use personal dats and photos in research and publications.