DNMT3B deficiency presenting as severe combined immune deficiency: A case report.

Mehawej, Cybel; Khalife, Hassan; Hanna-Wakim, Rima; Dbaibo, Ghassan; Farra, Chantal

Mehawej, Cybel; Khalife, Hassan; Hanna-Wakim, Rima; Dbaibo, Ghassan; Farra, Chantal.

Afiliación

Mehawej C; Medical Genetics Unit, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon. Electronic address: cybel.mehawej@usj.edu.lb.
Khalife H; Al-Zahraa Hospital University Medical Center, Lebanese University, Beirut, Lebanon.
Hanna-Wakim R; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine, American University of Beirut, Beirut, Lebanon; Center for Infectious Diseases Research, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
Dbaibo G; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine, American University of Beirut, Beirut, Lebanon; Center for Infectious Diseases Research, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
Farra C; Medical Genetics Unit, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon; Department of Medical Genetics, Hotel Dieu de France, Beirut, Lebanon.

Clin Immunol ; 215: 108453, 2020 06.

Article en En | MEDLINE | ID: mdl-32360517

Asunto(s)

ADN (Citosina-5-)-Metiltransferasas/deficiencia; Inmunodeficiencia Combinada Grave/genética; Femenino; Humanos; Lactante; Masculino; Mutación/genética; ADN Metiltransferasa 3B

Palabras clave

Atypical presentation; DNMT3B; ICF syndrome; Immunodeficiency; Severe combined immunodeficiency; Whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave / ADN (Citosina-5-)-Metiltransferasas Límite: Female / Humans / Infant / Male Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2020 Tipo del documento: Article

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