A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation.

Lal, Rayhan A; Bachrach, Laura K; Hoffman, Andrew R; Inlora, Jingga; Rego, Shannon; Snyder, Michael P; Lewis, David B

Lal, Rayhan A; Bachrach, Laura K; Hoffman, Andrew R; Inlora, Jingga; Rego, Shannon; Snyder, Michael P; Lewis, David B.

Afiliação

Lal RA; Division of Endocrinology, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305.
Bachrach LK; Division of Endocrinology, Department of Medicine, Stanford University School of Medicine, Stanford, California 94305.
Hoffman AR; Division of Endocrinology, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305.
Inlora J; Division of Endocrinology, Department of Medicine, Stanford University School of Medicine, Stanford, California 94305.
Rego S; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305.
Snyder MP; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305.
Lewis DB; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305.

J Clin Endocrinol Metab ; 102(7): 2127-2130, 2017 07 01.

Article em En | MEDLINE | ID: mdl-28472507

Assuntos

Agamaglobulinemia/genética; Imunodeficiência de Variável Comum/genética; Hipoglicemia/genética; Mutação de Sentido Incorreto; Subunidade p52 de NF-kappa B/genética; Insuficiência Adrenal/genética; Criança; Humanos; Masculino; Síndrome

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Imunodeficiência de Variável Comum / Mutação de Sentido Incorreto / Agamaglobulinemia / Subunidade p52 de NF-kappa B / Hipoglicemia Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: J Clin Endocrinol Metab Ano de publicação: 2017 Tipo de documento: Article

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