Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients

Autor:	Laura Palumbo, Luisa Gazzurelli, Marco Chiarini, Michael Colpani, Gaetana Lanzi, Maria Federica Girelli, Letizia Brescia, Giorgio Costagliola, Maria Cristina Menconi, Vassilios Lougaris, Alessio Benvenuto, Laura Luti, Maria Pia Bondioni, Raffaele Badolato, Gabriella Casazza, Antonella Meini, Giulio Tessarin, Silvia Giliani, Manuela Baronio, Fiammetta Zunica, Alessandro Plebani, Stefano Rossi, Fabio Cardinale, Daniele Moratto, Francesco Saettini, Baldassarre Martire
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	activated phosphoinositide 3-kinase delta syndrome 1 lymphoproliferation p110δ medicine.medical_treatment lcsh:Medicine Disease Hematopoietic stem cell transplantation PI3K Article 03 medical and health sciences 0302 clinical medicine Immune system Immunity primary combined immune deficiency medicine 030304 developmental biology 0303 health sciences Hemophagocytic lymphohistiocytosis PIK3CD biology business.industry lcsh:R General Medicine medicine.disease P110δ Cohort Immunology biology.protein Antibody business 030215 immunology
Zdroj:	Journal of Clinical Medicine Volume 9 Issue 10 Journal of Clinical Medicine, Vol 9, Iss 3335, p 3335 (2020)
ISSN:	2077-0383
Popis:	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 PI3K&delta pathway will most likely become a valid aid for the amelioration of patients&rsquo clinical management and their quality of life.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eee402bbbc31e83ed6a6828f26bb540 http://europepmc.org/articles/PMC7603210 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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