Spectrum of Phenotypes Associated with Mutations in LRBA.

Alkhairy, Omar K; Abolhassani, Hassan; Rezaei, Nima; Fang, Mingyan; Andersen, Kasper Krogh; Chavoshzadeh, Zahra; Mohammadzadeh, Iraj; El-Rajab, Mariam A; Massaad, Michel; Chou, Janet; Aghamohammadi, Asghar; Geha, Raif S; Hammarström, Lennart

Alkhairy, Omar K; Abolhassani, Hassan; Rezaei, Nima; Fang, Mingyan; Andersen, Kasper Krogh; Chavoshzadeh, Zahra; Mohammadzadeh, Iraj; El-Rajab, Mariam A; Massaad, Michel; Chou, Janet; Aghamohammadi, Asghar; Geha, Raif S; Hammarström, Lennart.

Afiliação

Alkhairy OK; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
Abolhassani H; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Rezaei N; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
Fang M; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Andersen KK; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Chavoshzadeh Z; Department of Immunology, School of Medicine, and Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Mohammadzadeh I; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
El-Rajab MA; BGI-Shenzhen, Beishan Industrial Zone, Yantian District, Shenzhen, China.
Massaad M; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
Chou J; Pediatric Infectious Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Aghamohammadi A; Noncommunicable Pediatric Diseases Research Center, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran.
Geha RS; Department of Pediatrics, Makassed General Hospital, Beirut, Lebanon.
Hammarström L; Division of Immunology, Boston Children's Hospital and the Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

J Clin Immunol ; 36(1): 33-45, 2016 Jan.

Article em En | MEDLINE | ID: mdl-26707784

Assuntos

Proteínas Adaptadoras de Transdução de Sinal/metabolismo; Síndromes de Imunodeficiência/diagnóstico; Insuficiência Respiratória/diagnóstico; Proteínas Adaptadoras de Transdução de Sinal/genética; Adolescente; Adulto; Animais; Autoimunidade/genética; Autofagia/genética; Criança; Pré-Escolar; Consanguinidade; Evolução Fatal; Feminino; Humanos; Lactente; Masculino; Mutação/genética; Linhagem; Fenótipo; Adulto Jovem

Palavras-chave

Primary immunodeficiency disorders (PID); apoptosis; autoimmune disease (AID); autophagy; chronic diarrhea (CD); common variable immunodeficiency (CVID); cytotoxic T-lymphocyte-associated protein 4 (CTLA4); hypogammaglobulinemia (HGG); lipopolysaccharide responsive beige-like anchor protein (LRBA); organomegaly (OM); regulatory T-cells (Treg)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Insuficiência Respiratória / Proteínas Adaptadoras de Transdução de Sinal / Síndromes de Imunodeficiência Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Clin Immunol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Suécia

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