A rare case of combined immunodeficiency due to a deletion of 11(q) – Jacobsen syndrome
| Rok vydání: | 2020 |
|---|---|
| Předmět: |
0301 basic medicine
Coloboma medicine.medical_specialty Psychomotor retardation business.industry Immunology Hematology 030105 genetics & heredity medicine.disease Dermatology 03 medical and health sciences Skull 030104 developmental biology medicine.anatomical_structure Oncology Ptosis Pediatrics Perinatology and Child Health Immunology and Allergy Medicine Jacobsen syndrome medicine.symptom Hypertelorism business Immunodeficiency Low-set ears |
| Zdroj: | Pediatric Hematology/Oncology and Immunopathology. 19:114-120 |
| ISSN: | 2414-9314 1726-1708 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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