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A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1).
Lougaris, Vassilios; Baronio, Manuela; Moratto, Daniele; Tampella, Giacomo; Gazzurelli, Luisa; Facchetti, Mattia; Martire, Baldassarre; Cardinale, Fabio; Lanzarotto, Francesco; Bondioni, Maria Pia; Villanacci, Vincenzo; Grimbacher, Bodo; Plebani, Alessandro.
Afiliação
  • Lougaris V; Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy. Electronic address: vlougarisbs@yahoo.com.
  • Baronio M; Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Moratto D; Institute for Molecular Medicine A. Nocivelli, Department of Pathology, Laboratory of Genetic Disorders of Childhood, Department of Molecular and Translational Medicine, University of Brescia, Spedali Civili di Brescia, Italy.
  • Tampella G; Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Gazzurelli L; Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Facchetti M; Institute of Pathology, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Martire B; Paediatric Hematology Oncology Unit, "Policlinico-Giovanni XXII" Hospital, University of Bari, Italy.
  • Cardinale F; Allergy, Immunology and Pediatric Pulmonology Unit, Ospedale Pediatrico Papa Giovanni XXIII, Bari, Italy.
  • Lanzarotto F; Gastroenterology Unit, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Bondioni MP; Pediatric Radiology, University of Brescia, ASST Spedali Civili di Brescia, Brescia, Italy.
  • Villanacci V; Institute of Pathology, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Grimbacher B; Center for Chronic Immunodeficiency (CCI), University Hospital, Medical Faculty, Albert-Ludwig University, Freiburg, Germany.
  • Plebani A; Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
Clin Immunol ; 200: 31-34, 2019 03.
Article em En | MEDLINE | ID: mdl-30639166
ABSTRACT
This study reports on a novel activating p110δ mutation causing adult-onset hypogammaglobulinemia with lymphopenia without the classical presentation of atypical Activated phosphoinositide 3-kinase δ syndrome (ADPS-1), underlining thus the heterogeneous clinical and immunological presentation of p110δ mutated individuals and offers additional data on the role of p110δ in early and late B cell development in humans.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Agamaglobulinemia / Classe I de Fosfatidilinositol 3-Quinases / Doenças da Imunodeficiência Primária / Linfopenia Limite: Adult / Female / Humans Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Agamaglobulinemia / Classe I de Fosfatidilinositol 3-Quinases / Doenças da Imunodeficiência Primária / Linfopenia Limite: Adult / Female / Humans Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2019 Tipo de documento: Article