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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-27063589
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Severe Combined Immunodeficiency / Stromal Interaction Molecule 1 / ORAI1 Protein / Mutation / Neoplasm Proteins Limits: Female / Humans / Infant Language: En Journal: Clin Immunol Journal subject: ALERGIA E IMUNOLOGIA Year: 2016 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Severe Combined Immunodeficiency / Stromal Interaction Molecule 1 / ORAI1 Protein / Mutation / Neoplasm Proteins Limits: Female / Humans / Infant Language: En Journal: Clin Immunol Journal subject: ALERGIA E IMUNOLOGIA Year: 2016 Type: Article Affiliation country: United States