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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
Jabara, Haifa H; Boyden, Steven E; Chou, Janet; Ramesh, Narayanaswamy; Massaad, Michel J; Benson, Halli; Bainter, Wayne; Fraulino, David; Rahimov, Fedik; Sieff, Colin; Liu, Zhi-Jian; Alshemmari, Salem H; Al-Ramadi, Basel K; Al-Dhekri, Hasan; Arnaout, Rand; Abu-Shukair, Mohammad; Vatsayan, Anant; Silver, Eli; Ahuja, Sanjay; Davies, E Graham; Sola-Visner, Martha; Ohsumi, Toshiro K; Andrews, Nancy C; Notarangelo, Luigi D; Fleming, Mark D; Al-Herz, Waleed; Kunkel, Louis M; Geha, Raif S.
Afiliação
  • Jabara HH; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Boyden SE; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
  • Chou J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Ramesh N; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Massaad MJ; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
  • Benson H; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Bainter W; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
  • Fraulino D; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Rahimov F; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
  • Sieff C; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Liu ZJ; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
  • Alshemmari SH; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Al-Ramadi BK; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Al-Dhekri H; Division of Immunology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Arnaout R; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Abu-Shukair M; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Vatsayan A; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
  • Silver E; Division of Hematology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Ahuja S; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
  • Davies EG; Division of Neonatology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Sola-Visner M; Department of Medicine, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
  • Ohsumi TK; Department of Medical Microbiology and Immunology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
  • Andrews NC; King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Notarangelo LD; King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Fleming MD; Immunology, Allergy and Rheumatology Division, Queen Rania Hospital for Children, Amman, Jordan.
  • Al-Herz W; Department of Pediatric Hematology/Oncology, University Hospitals Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, Ohio, USA.
  • Kunkel LM; Division of Pulmonology and Sleep Medicine, University Hospitals Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, Ohio, USA.
  • Geha RS; Department of Pediatric Hematology/Oncology, University Hospitals Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, Ohio, USA.
Nat Genet ; 48(1): 74-8, 2016 Jan.
Article em En | MEDLINE | ID: mdl-26642240
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores da Transferrina / Antígenos CD / Mutação de Sentido Incorreto / Síndromes de Imunodeficiência Tipo de estudo: Etiology_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores da Transferrina / Antígenos CD / Mutação de Sentido Incorreto / Síndromes de Imunodeficiência Tipo de estudo: Etiology_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos