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Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients
Activated phosphoinositide 3-kinase delta syndrome 1 (APDS-1) is a recently described inborn error of immunity caused by monoallelic gain-of-function mutations in the PIK3CD gene. We reviewed for the first time medical records and laboratory data of eight Italian APDS-1 patients. Recurrent sinopulmo...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7603210/ https://www.ncbi.nlm.nih.gov/pubmed/33080915 http://dx.doi.org/10.3390/jcm9103335 |
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author | Tessarin, Giulio Rossi, Stefano Baronio, Manuela Gazzurelli, Luisa Colpani, Michael Benvenuto, Alessio Zunica, Fiammetta Cardinale, Fabio Martire, Baldassarre Brescia, Letizia Costagliola, Giorgio Luti, Laura Casazza, Gabriella Menconi, Maria Cristina Saettini, Francesco Palumbo, Laura Girelli, Maria Federica Badolato, Raffaele Lanzi, Gaetana Chiarini, Marco Moratto, Daniele Meini, Antonella Giliani, Silvia Bondioni, Maria Pia Plebani, Alessandro Lougaris, Vassilios |
author_facet | Tessarin, Giulio Rossi, Stefano Baronio, Manuela Gazzurelli, Luisa Colpani, Michael Benvenuto, Alessio Zunica, Fiammetta Cardinale, Fabio Martire, Baldassarre Brescia, Letizia Costagliola, Giorgio Luti, Laura Casazza, Gabriella Menconi, Maria Cristina Saettini, Francesco Palumbo, Laura Girelli, Maria Federica Badolato, Raffaele Lanzi, Gaetana Chiarini, Marco Moratto, Daniele Meini, Antonella Giliani, Silvia Bondioni, Maria Pia Plebani, Alessandro Lougaris, Vassilios |
author_sort | Tessarin, Giulio |
collection | PubMed |
description | Activated phosphoinositide 3-kinase delta syndrome 1 (APDS-1) is a recently described inborn error of immunity caused by monoallelic gain-of-function mutations in the PIK3CD gene. We reviewed for the first time medical records and laboratory data of eight Italian APDS-1 patients. Recurrent sinopulmonary infections were the most common clinical feature at onset of disease. Seven patients presented lymphoproliferative disease, at onset or during follow-up, one of which resembled hemophagocytic lymphohistiocytosis (HLH). Genetic analysis of the PIK3CD gene revealed three novel mutations: functional testing confirmed their activating nature. In the remaining patients, the previously reported variants p.E1021K (n = 4) and p.E525A (n = 1) were identified. Six patients were started on immunoglobulin replacement treatment (IgRT). One patient successfully underwent hematopoietic stem cell transplantation (HSCT), with good chimerism and no GVHD at 21 months post-HSCT. APDS-1 is a combined immune deficiency with a wide variety of clinical manifestations and a complex immunological presentation. Besides IgRT, specific therapies targeting the PI3Kδ pathway will most likely become a valid aid for the amelioration of patients’ clinical management and their quality of life. |
format | Online Article Text |
id | pubmed-7603210 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-76032102020-11-01 Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients Tessarin, Giulio Rossi, Stefano Baronio, Manuela Gazzurelli, Luisa Colpani, Michael Benvenuto, Alessio Zunica, Fiammetta Cardinale, Fabio Martire, Baldassarre Brescia, Letizia Costagliola, Giorgio Luti, Laura Casazza, Gabriella Menconi, Maria Cristina Saettini, Francesco Palumbo, Laura Girelli, Maria Federica Badolato, Raffaele Lanzi, Gaetana Chiarini, Marco Moratto, Daniele Meini, Antonella Giliani, Silvia Bondioni, Maria Pia Plebani, Alessandro Lougaris, Vassilios J Clin Med Article Activated phosphoinositide 3-kinase delta syndrome 1 (APDS-1) is a recently described inborn error of immunity caused by monoallelic gain-of-function mutations in the PIK3CD gene. We reviewed for the first time medical records and laboratory data of eight Italian APDS-1 patients. Recurrent sinopulmonary infections were the most common clinical feature at onset of disease. Seven patients presented lymphoproliferative disease, at onset or during follow-up, one of which resembled hemophagocytic lymphohistiocytosis (HLH). Genetic analysis of the PIK3CD gene revealed three novel mutations: functional testing confirmed their activating nature. In the remaining patients, the previously reported variants p.E1021K (n = 4) and p.E525A (n = 1) were identified. Six patients were started on immunoglobulin replacement treatment (IgRT). One patient successfully underwent hematopoietic stem cell transplantation (HSCT), with good chimerism and no GVHD at 21 months post-HSCT. APDS-1 is a combined immune deficiency with a wide variety of clinical manifestations and a complex immunological presentation. Besides IgRT, specific therapies targeting the PI3Kδ pathway will most likely become a valid aid for the amelioration of patients’ clinical management and their quality of life. MDPI 2020-10-17 /pmc/articles/PMC7603210/ /pubmed/33080915 http://dx.doi.org/10.3390/jcm9103335 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Tessarin, Giulio Rossi, Stefano Baronio, Manuela Gazzurelli, Luisa Colpani, Michael Benvenuto, Alessio Zunica, Fiammetta Cardinale, Fabio Martire, Baldassarre Brescia, Letizia Costagliola, Giorgio Luti, Laura Casazza, Gabriella Menconi, Maria Cristina Saettini, Francesco Palumbo, Laura Girelli, Maria Federica Badolato, Raffaele Lanzi, Gaetana Chiarini, Marco Moratto, Daniele Meini, Antonella Giliani, Silvia Bondioni, Maria Pia Plebani, Alessandro Lougaris, Vassilios Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients |
title | Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients |
title_full | Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients |
title_fullStr | Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients |
title_full_unstemmed | Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients |
title_short | Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients |
title_sort | activated phosphoinositide 3-kinase delta syndrome 1: clinical and immunological data from an italian cohort of patients |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7603210/ https://www.ncbi.nlm.nih.gov/pubmed/33080915 http://dx.doi.org/10.3390/jcm9103335 |
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