Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

Ben-Ami, Tal; Revel-Vilk, Shoshana; Brooks, Rebecca; Shaag, Avraham; Hershfield, Michael S; Kelly, Susan J; Ganson, Nancy J; Kfir-Erenfeld, Shlomit; Weintraub, Michael; Elpeleg, Orly; Berkun, Yackov; Stepensky, Polina

Ben-Ami, Tal; Revel-Vilk, Shoshana; Brooks, Rebecca; Shaag, Avraham; Hershfield, Michael S; Kelly, Susan J; Ganson, Nancy J; Kfir-Erenfeld, Shlomit; Weintraub, Michael; Elpeleg, Orly; Berkun, Yackov; Stepensky, Polina.

Afiliação

Ben-Ami T; Department of Pediatric Hematology Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Medical Center, Jerusalem, Israel. Electronic address: tal.ben.ami11@gmail.com.
Revel-Vilk S; Department of Pediatric Hematology Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Brooks R; Department of Pediatrics, Hadassah-Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.
Shaag A; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Hershfield MS; Department of Medicine and Biochemistry, Duke University School of Medicine, Durham, NC.
Kelly SJ; Department of Medicine, Duke University School of Medicine, Durham, NC.
Ganson NJ; Department of Medicine, Duke University School of Medicine, Durham, NC.
Kfir-Erenfeld S; The Lautenberg Center for Immunology and Cancer Research, IMRIC, The Hebrew University-Hadassah Medical School, Jerusalem, Israel.
Weintraub M; Department of Pediatric Hematology Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Berkun Y; Department of Pediatrics, Hadassah-Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.
Stepensky P; Department of Pediatric Hematology Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

J Pediatr ; 177: 316-320, 2016 10.

Article em En | MEDLINE | ID: mdl-27514238

ABSTRACT

ABSTRACT

Adenosine deaminase 2 deficiency is an autoinflammatory disease, characterized by various forms of vasculitis. We describe 5 patients with adenosine deaminase 2 deficiency with various hematologic manifestations, including pure red cell aplasia, with no evidence for vasculitis.

Assuntos

Adenosina Desaminase/deficiência; Peptídeos e Proteínas de Sinalização Intercelular/deficiência; Adenosina Desaminase/genética; Criança; Pré-Escolar; Feminino; Humanos; Lactente; Peptídeos e Proteínas de Sinalização Intercelular/genética; Masculino; Erros Inatos do Metabolismo/diagnóstico; Erros Inatos do Metabolismo/genética; Fenótipo

Palavras-chave

autoinflammatory diseases; pure red cell aplasia; vasculitis; whole exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Adenosina Desaminase / Peptídeos e Proteínas de Sinalização Intercelular Tipo de estudo: Diagnostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Pediatr Ano de publicação: 2016 Tipo de documento: Article

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