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Open AccessArticle

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

by 1, 1, 1, 1, 1, 1, 1, 2, 3, 4, 5, 6, 6, 6, 7, 8, 8, 1, 9, 10, 10, 8, 11, 12, 1 and 1,*
1
Pediatrics Clinic and 鈥淎. Nocivelli鈥 Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, 25123 Brescia, Italy
2
Allergy, Immunology and Pediatric Pulmonology Unit, 鈥淧oliclinico-Giovanni XXII鈥 Hospital, University of Bari, 70126 Bari, Italy
3
Pediatrics Unit, Monsignor Dimiccoli Hospital, 70051 Barletta, Italy
4
Pediatric Oncohematology Unit, Ospedale Santissima Annunziata, 74121 Taranto, Italy
5
Division of Pediatrics, University of Pisa, 56126 Pisa, Italy
6
Pediatric Oncology and Hematology, University of Pisa, 56126 Pisa, Italy
7
Pediatric Hematology Oncology Unit, Department of Pediatrics, University of Milano Bicocca, MBBM Foundation, 20900 Monza, Italy
8
Pediatrics Clinic, ASST-Spedali Civili of Brescia, 25123 Brescia, Italy
9
鈥淎ngelo Nocivelli鈥 Institute for Molecular Medicine, ASST Spedali Civili, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy
10
Clinical Chemical Analysis Central Laboratory, ASST Spedali Civili of Brescia, 25123 Brescia, Italy
11
Cytogenetic and Medical Genetics Unit and 鈥淎. Nocivelli鈥 Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, ASST Spedali Civili of Brescia, 25123 Brescia, Italy
12
Pediatric Radiology, University of Brescia, ASST Spedali Civili di Brescia, 25123 Brescia, Italy
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(10), 3335;
Received: 24 September 2020 / Revised: 14 October 2020 / Accepted: 15 October 2020 / Published: 17 October 2020
(This article belongs to the Special Issue Clinical Research on Primary Immunodeficiency Diseases)
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. View Full-Text
Keywords: activated phosphoinositide 3-kinase delta syndrome 1; lymphoproliferation; primary combined immune deficiency; p110未; PIK3CD; PI3K activated phosphoinositide 3-kinase delta syndrome 1; lymphoproliferation; primary combined immune deficiency; p110未; PIK3CD; PI3K
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Tessarin, G.; Rossi, S.; Baronio, M.; Gazzurelli, L.; Colpani, M.; Benvenuto, A.; Zunica, F.; Cardinale, F.; Martire, B.; Brescia, L.; Costagliola, G.; Luti, L.; Casazza, G.; Menconi, M.C.; Saettini, F.; Palumbo, L.; Girelli, M.F.; Badolato, R.; Lanzi, G.; Chiarini, M.; Moratto, D.; Meini, A.; Giliani, S.; Bondioni, M.P.; Plebani, A.; Lougaris, V. Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients. J. Clin. Med. 2020, 9, 3335.

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