A homozygote novel L451W mutation in CECR1 gene causes deficiency of adenosine deaminase 2 in a pediatric patient representing with chronic lymphoproliferation and cytopenia

Autor:	Göksel Leblebisatan, Rabia Miray Kisla Ekinci, Sibel Balci, Atil Bisgin, Faruk Incecik, İlgen Şaşmaz, Mustafa Yilmaz
Přispěvatelé:	Çukurova Üniversitesi
Rok vydání:	2019
Předmět:	Male medicine.medical_specialty Adolescent lymphoproliferation Adenosine Deaminase Anemia Hepatosplenomegaly Neutropenia Gastroenterology Etanercept 03 medical and health sciences 0302 clinical medicine Lymphopenia Internal medicine medicine Humans CECR1 gene Livedo reticularis cytopenia deficiency of adenosine deaminase 2 Cytopenia business.industry Homozygote Hematology medicine.disease Rash Lymphoproliferative Disorders Oncology 030220 oncology & carcinogenesis Chronic Disease Mutation Pediatrics Perinatology and Child Health Intercellular Signaling Peptides and Proteins Female medicine.symptom business Polyneuropathy 030215 immunology medicine.drug
Zdroj:	Pediatric Hematology and Oncology. 36:376-381
ISSN:	1521-0669 0888-0018 3152-2599
DOI:	10.1080/08880018.2019.1621973
Popis:	PubMedID: 31522599 Deficiency of Adenosine Deaminase 2 (DADA2) is a monogenic autoinflammatory disorder characterized by livedo reticularis, skin ulcers, subcutaneous rash, aphthous ulcers, and leukocytoclastic vasculitis, neurological signs such as early onset stroke and polyneuropathy. A minority of DADA2 patients suffer from severe cytopenia and lymphoproliferation. Herein, we report an adolescent patient, followed up as having a hematological disorder for many years, eventually diagnosed as having DADA2. In view of the presence of elevated acute phase reactants, hepatosplenomegaly, low IgM level, lymphopenia, anemia, and neutropenia, and a subtle neurological involvement we considered DADA2 diagnosis. The diagnosis was confirmed by identification of a novel L451W mutation in CECR1 gene. The patient has been successfully treated with etanercept, monthly intravenous immunoglobulin replacement, and low-dose methylprednisolone. In conclusion, although the absence of skin and neurological findings, low IgM levels, and persistent lymphopenia should lead the physicians to consider DADA2 in patients with particularly complicated hematological abnormalities. © 2019, © 2019 Taylor & Francis Group, LLC.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4e56e98fcffc23b12066324d094b8df https://doi.org/10.1080/08880018.2019.1621973 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.