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Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.
Mendonca, Leonardo O; Malle, Louise; Donovan, Frank X; Chandrasekharappa, Settara C; Montealegre Sanchez, Gina A; Garg, Megha; Tedgard, Ulf; Castells, Mariana; Saini, Shiv S; Dutta, Sourabh; Goldbach-Mansky, Raphaela; Suri, Deepti; Jesus, Adriana A.
Afiliação
  • Mendonca LO; Clinical Immunology and Allergy Department, HC-FMUSP, Sao Paulo, SP, Brazil.
  • Malle L; Translational Autoinflammatory Diseases Studies, NIAID, NIH, Bethesda, MD, USA.
  • Donovan FX; Cancer Genetics and Comparative Genomics Branch, NHGRI, NIH, Bethesda, MD, USA.
  • Chandrasekharappa SC; Cancer Genetics and Comparative Genomics Branch, NHGRI, NIH, Bethesda, MD, USA.
  • Montealegre Sanchez GA; Translational Autoinflammatory Diseases Studies, NIAID, NIH, Bethesda, MD, USA.
  • Garg M; Translational Autoinflammatory Diseases Studies, NIAID, NIH, Bethesda, MD, USA.
  • Tedgard U; Rheumatology Fellowship Program, NIAMS, NIH, Bethesda, MD, USA.
  • Castells M; Department of Pediatric Hematology Oncology, Skåne University Hospital, Lund, Sweden.
  • Saini SS; Hypersensitiviy and Desensitization Center, Mastocytosis Center, Brigham and Women's Hospital, Boston, MA, USA.
  • Dutta S; Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Goldbach-Mansky R; Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Suri D; Translational Autoinflammatory Diseases Studies, NIAID, NIH, Bethesda, MD, USA.
  • Jesus AA; Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
J Clin Immunol ; 37(5): 445-451, 2017 Jul.
Article em En | MEDLINE | ID: mdl-28503715

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção de Sequência / Proteína Antagonista do Receptor de Interleucina 1 / Doenças Hereditárias Autoinflamatórias Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Infant País/Região como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção de Sequência / Proteína Antagonista do Receptor de Interleucina 1 / Doenças Hereditárias Autoinflamatórias Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Infant País/Região como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article