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Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.
Martínez-Saavedra, María Teresa; García-Gomez, Sonia; Domínguez Acosta, Ana; Mendoza Quintana, Juan Jesús; Páez, Jesús Poch; García-Reino, Eduardo J; Camps, Gracián; Martinez-Barricarte, Rubén; Itan, Yuval; Boisson, Bertrand; Sánchez-Ramón, Silvia; Regueiro, José Ramón; Casanova, Jean-Laurent; Rodríguez-Gallego, Carlos; Pérez de Diego, Rebeca.
Afiliación
  • Martínez-Saavedra MT; Clinical Immunology Department, Hospital Universitario de G.C. Dr. Negrín, Gran Canaria, Spain.
  • García-Gomez S; Laboratory of Immunogenetics of Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain; Department of Immunology, Complutense University School of Medicine, Hospital 12 de Octubre Health Research Institute, Madrid, Spain.
  • Domínguez Acosta A; Clinical Immunology Department, Hospital Universitario de G.C. Dr. Negrín, Gran Canaria, Spain.
  • Mendoza Quintana JJ; Clinical Immunology Department, Hospital Universitario de G.C. Dr. Negrín, Gran Canaria, Spain.
  • Páez JP; Infectious diseases Unit-Pediatrics Complejo Hospitalario Universitario Insular-Materno Infantil, Gran Canaria, Spain.
  • García-Reino EJ; Laboratory of Immunogenetics of Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain; Department of Immunology, Complutense University School of Medicine, Hospital 12 de Octubre Health Research Institute, Madrid, Spain.
  • Camps G; Laboratory of Immunogenetics of Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain; Department of Immunology, Complutense University School of Medicine, Hospital 12 de Octubre Health Research Institute, Madrid, Spain.
  • Martinez-Barricarte R; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, USA.
  • Itan Y; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, USA.
  • Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University Paris Descartes, Imagine Institute,
  • Sánchez-Ramón S; Clinical Immunology Department, San Carlos Clinical Hospital, Madrid, Spain.
  • Regueiro JR; Department of Immunology, Complutense University School of Medicine, Hospital 12 de Octubre Health Research Institute, Madrid, Spain.
  • Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, USA; Howard Hughes Medical Institute, New York, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France
  • Rodríguez-Gallego C; Clinical Immunology Department, Hospital Universitario Son Espases, Palma de Mallorca, Spain.
  • Pérez de Diego R; Laboratory of Immunogenetics of Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain; Department of Immunology, Complutense University School of Medicine, Hospital 12 de Octubre Health Research Institute, Madrid, Spain. Electronic address: perezdediegor@gmail.com
Clin Immunol ; 173: 117-120, 2016 Dec.
Article en En | MEDLINE | ID: mdl-27693481
ABSTRACT
Antibody deficiencies can be caused by a variety of defects that interfere with B-cell development, maturation, and/or function. Using whole-exome sequencing we found a PIK3R1 mutation in a patient with hypogammaglobulinemia and a narrow clinical phenotype of respiratory infections. Early diagnosis is crucial; careful analysis of B and T-cells followed by genetic analyses may help to distinguish activated PI3K-delta syndrome (APDS) from other, less severe, predominantly antibody deficiencies.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Infecciones del Sistema Respiratorio / Fosfatidilinositol 3-Quinasas / Agammaglobulinemia Tipo de estudio: Screening_studies Límite: Child / Female / Humans Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2016 Tipo del documento: Article País de afiliación: España
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Infecciones del Sistema Respiratorio / Fosfatidilinositol 3-Quinasas / Agammaglobulinemia Tipo de estudio: Screening_studies Límite: Child / Female / Humans Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2016 Tipo del documento: Article País de afiliación: España