Engin Demir, Filiz Adım, Mehmet Ercüment Döğen, Ayşe Aydoğdu, Edanur Yeşil, Serdar Mermer, Burak Başer, Gizem Ürel Demir
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引用次数: 0
Abstract
Background: Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) caused by Exostosin-Like Glycosyltransferase 3 (EXTL3) biallelic mutations is a very rare syndrome with only 16 cases reported in the literature. Skeletal dysplasia, neurodevelopmental delay, immunodeficiency, liver, and kidney cysts are the most common findings of this syndrome. Case Presentation: Here, we report on a patient who exhibited a lethal phenotype with clinical characteristics of this syndrome and had a homozygous pathogenic mutation in EXTL3 gene. Conclusions: ISDNA should be kept in mind in the differential diagnosis of patients presenting with neuro-immuno-skeletal dysplasia phenotype.
期刊介绍：
Pediatric Allergy, Immunology, and Pulmonology is a peer-reviewed journal designed to promote understanding and advance the treatment of respiratory, allergic, and immunologic diseases in children. The Journal delivers original translational, clinical, and epidemiologic research on the most common chronic illnesses of children—asthma and allergies—as well as many less common and rare diseases. It emphasizes the developmental implications of the morphological, physiological, pharmacological, and sociological components of these problems, as well as the impact of disease processes on families.
Pediatric Allergy, Immunology, and Pulmonology coverage includes:
-Functional and genetic immune deficiencies-
Interstitial lung diseases-
Both common and rare respiratory, allergic, and immunologic diseases-
Patient care-
Patient education research-
Public health policy-
International health studies
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