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Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1.
Badran, Yousef R; Massaad, Michel J; Bainter, Wayne; Cangemi, Brittney; Naseem, Shafiq Ur Rehman; Javad, Hashim; Al-Tamemi, Salem; Geha, Raif S; Chou, Janet.
Afiliación
  • Badran YR; Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Massaad MJ; Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Bainter W; Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Cangemi B; Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Naseem SU; Department of Pediatrics, Sultan Qaboos University, Muscat, Oman.
  • Javad H; Department of Pediatrics, Sultan Qaboos University, Muscat, Oman.
  • Al-Tamemi S; Department of Pediatrics, Sultan Qaboos University, Muscat, Oman.
  • Geha RS; Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address: raif.geha@childrens.harvard.edu.
  • Chou J; Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Clin Immunol ; 166-167: 100-2, 2016 05.
Article en En | MEDLINE | ID: mdl-27063589
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave / Molécula de Interacción Estromal 1 / Proteína ORAI1 / Mutación / Proteínas de Neoplasias Límite: Female / Humans / Infant Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave / Molécula de Interacción Estromal 1 / Proteína ORAI1 / Mutación / Proteínas de Neoplasias Límite: Female / Humans / Infant Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos