A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia.

Topyildiz, Ezgi; Edeer Karaca, Neslihan; Bas, Ilke; Aykut, Ayca; Durmaz, Asude; Guven Bilgin, Raziye B; Aksu, Guzide; Yilmaz Karapinar, Deniz; Kutukculer, Necil

Topyildiz, Ezgi; Edeer Karaca, Neslihan; Bas, Ilke; Aykut, Ayca; Durmaz, Asude; Guven Bilgin, Raziye B; Aksu, Guzide; Yilmaz Karapinar, Deniz; Kutukculer, Necil.

Topyildiz E; Departments of Pediatrics.
Edeer Karaca N; Departments of Pediatrics.
Bas I; Departments of Pediatrics.
Aykut A; Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.
Durmaz A; Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.
Guven Bilgin RB; Departments of Pediatrics.
Aksu G; Departments of Pediatrics.
Yilmaz Karapinar D; Departments of Pediatrics.
Kutukculer N; Departments of Pediatrics.

J Pediatr Hematol Oncol ; 43(6): e780-e784, 2021 08 01.

Article en En | MEDLINE | ID: mdl-33843817

Asunto(s)

Agammaglobulinemia/etiología; Anemia Hemolítica/etiología; Inmunodeficiencia Variable Común/complicaciones; Inmunodeficiencia Variable Común/genética; Nucleotidiltransferasas/genética; Agammaglobulinemia/genética; Anemia Hemolítica/genética; Niño; Inmunodeficiencia Variable Común/diagnóstico; Diagnóstico Precoz; Homocigoto; Humanos; Masculino; Mutación

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Variable Común / Agammaglobulinemia / Anemia Hemolítica / Nucleotidiltransferasas Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Child / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article

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