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

Adult Agammaglobulinemia / genetics B-Lymphocytes / cytology Class I Phosphatidylinositol 3-Kinases / genetics Female Gain of Function Mutation Humans Lymphopenia / genetics Lymphopoiesis Primary Immunodeficiency Diseases / genetics
APDS-1 B cells Bone marrow Hypogammaglobulinemia T cells p110δ

Journal

Clinical immunology (Orlando, Fla.)
ISSN: 1521-7035
Titre abrégé: Clin Immunol
Pays: United States
ID NLM: 100883537

Informations de publication

Date de publication:
03 2019
Historique:
received: 16 11 2018
revised: 03 01 2019
accepted: 08 01 2019
pubmed: 15 1 2019
medline: 1 1 2020
entrez: 15 1 2019
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.clim.2019.01.003 PMID: 30639166
pubmed: 30639166
pii: S1521-6616(18)30664-8
doi: 10.1016/j.clim.2019.01.003
pii:
doi:

Substances chimiques

Class I Phosphatidylinositol 3-Kinases EC 2.7.1.137
PIK3CD protein, human EC 2.7.1.137

Types de publication

Case Reports Letter Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

31-34

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

Auteurs

Vassilios 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.

Manuela 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.

Daniele 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.

Giacomo 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.

Luisa 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.

Mattia Facchetti (M)

Institute of Pathology, ASST-Spedali Civili of Brescia, Brescia, Italy.

Baldassarre Martire (B)

Paediatric Hematology Oncology Unit, "Policlinico-Giovanni XXII" Hospital, University of Bari, Italy.

Fabio Cardinale (F)

Allergy, Immunology and Pediatric Pulmonology Unit, Ospedale Pediatrico Papa Giovanni XXIII, Bari, Italy.

Francesco Lanzarotto (F)

Gastroenterology Unit, ASST-Spedali Civili of Brescia, Brescia, Italy.

Maria Pia Bondioni (MP)

Pediatric Radiology, University of Brescia, ASST Spedali Civili di Brescia, Brescia, Italy.

Vincenzo Villanacci (V)

Institute of Pathology, ASST-Spedali Civili of Brescia, Brescia, Italy.

Bodo Grimbacher (B)

Center for Chronic Immunodeficiency (CCI), University Hospital, Medical Faculty, Albert-Ludwig University, Freiburg, Germany.

Alessandro 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.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › A novel monoallelic gain of function mutation...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Agammaglobulinémie › A novel monoallelic gain of function mutation...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes B › A novel monoallelic gain of function mutation...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Phosphatidylinositol 3-kinases › Phosphatidylinositol-4-phosphate 3-kinase › Phosphatidylinositol 3-kinases de classe I › A novel monoallelic gain of function mutation...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation gain de fonction › A novel monoallelic gain of function mutation...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A novel monoallelic gain of function mutation...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Lymphopénie › A novel monoallelic gain of function mutation...
questionsmedicales.fr › Phénomènes physiologiques respiratoires et circulatoires › Phénomènes physiogiques du sang › Hématopoïèse › Leucopoïèse › Lymphopoïèse › A novel monoallelic gain of function mutation...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Maladies d'immunodéficience primaire › A novel monoallelic gain of function mutation...