A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1).

Autor: 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.
Jazyk: angličtina
Zdroj: Clinical immunology (Orlando, Fla.) [Clin Immunol] 2019 Mar; Vol. 200, pp. 31-34. Date of Electronic Publication: 2019 Jan 09.
DOI: 10.1016/j.clim.2019.01.003
Abstrakt: 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.
(Copyright © 2019 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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