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Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling
Activated PI3-kinase-δ syndrome 2 (APDS2) is caused by autosomal dominant mutations in the PIK3R1 gene encoding the p85α, p55α, and p50α regulatory subunits. Most diagnosed APDS2 patients carry mutations affecting either the splice donor or splice acceptor sites of exon 11 of the PIK3R1 gene respons...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8266209/ https://www.ncbi.nlm.nih.gov/pubmed/34249818 http://dx.doi.org/10.3389/fped.2021.688022 |
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author | Moreno-Corona, Nidia Chentout, Loïc Poggi, Lucie Thouenon, Romane Masson, Cecile Parisot, Melanie Mouel, Lou Le Picard, Capucine André, Isabelle Cavazzana, Marina Perrin, Laurence Durandy, Anne Azarnoush, Saba Kracker, Sven |
author_facet | Moreno-Corona, Nidia Chentout, Loïc Poggi, Lucie Thouenon, Romane Masson, Cecile Parisot, Melanie Mouel, Lou Le Picard, Capucine André, Isabelle Cavazzana, Marina Perrin, Laurence Durandy, Anne Azarnoush, Saba Kracker, Sven |
author_sort | Moreno-Corona, Nidia |
collection | PubMed |
description | Activated PI3-kinase-δ syndrome 2 (APDS2) is caused by autosomal dominant mutations in the PIK3R1 gene encoding the p85α, p55α, and p50α regulatory subunits. Most diagnosed APDS2 patients carry mutations affecting either the splice donor or splice acceptor sites of exon 11 of the PIK3R1 gene responsible for an alternative splice product and a shortened protein. The clinical presentation of APDS2 patients is highly variable, ranging from mild to profound combined immunodeficiency features as massive lymphoproliferation, increased susceptibility to bacterial and viral infections, bronchiectasis, autoimmune manifestations, and occurrence of cancer. Non-immunological features such as growth retardation and neurodevelopmental delay have been reported for APDS2 patients. Here, we describe a patient suffering from an APDS2 associated with a Smith–Magenis syndrome (SMS), a complex genetic disorder affecting, among others, neurological manifestations and review the literature describing neurodevelopmental impacts in APDS2 and other PIDs/monogenetic disorders associated with dysregulated PI3K signaling. |
format | Online Article Text |
id | pubmed-8266209 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-82662092021-07-09 Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling Moreno-Corona, Nidia Chentout, Loïc Poggi, Lucie Thouenon, Romane Masson, Cecile Parisot, Melanie Mouel, Lou Le Picard, Capucine André, Isabelle Cavazzana, Marina Perrin, Laurence Durandy, Anne Azarnoush, Saba Kracker, Sven Front Pediatr Pediatrics Activated PI3-kinase-δ syndrome 2 (APDS2) is caused by autosomal dominant mutations in the PIK3R1 gene encoding the p85α, p55α, and p50α regulatory subunits. Most diagnosed APDS2 patients carry mutations affecting either the splice donor or splice acceptor sites of exon 11 of the PIK3R1 gene responsible for an alternative splice product and a shortened protein. The clinical presentation of APDS2 patients is highly variable, ranging from mild to profound combined immunodeficiency features as massive lymphoproliferation, increased susceptibility to bacterial and viral infections, bronchiectasis, autoimmune manifestations, and occurrence of cancer. Non-immunological features such as growth retardation and neurodevelopmental delay have been reported for APDS2 patients. Here, we describe a patient suffering from an APDS2 associated with a Smith–Magenis syndrome (SMS), a complex genetic disorder affecting, among others, neurological manifestations and review the literature describing neurodevelopmental impacts in APDS2 and other PIDs/monogenetic disorders associated with dysregulated PI3K signaling. Frontiers Media S.A. 2021-06-24 /pmc/articles/PMC8266209/ /pubmed/34249818 http://dx.doi.org/10.3389/fped.2021.688022 Text en Copyright © 2021 Moreno-Corona, Chentout, Poggi, Thouenon, Masson, Parisot, Mouel, Picard, André, Cavazzana, Perrin, Durandy, Azarnoush and Kracker. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Moreno-Corona, Nidia Chentout, Loïc Poggi, Lucie Thouenon, Romane Masson, Cecile Parisot, Melanie Mouel, Lou Le Picard, Capucine André, Isabelle Cavazzana, Marina Perrin, Laurence Durandy, Anne Azarnoush, Saba Kracker, Sven Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling |
title | Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling |
title_full | Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling |
title_fullStr | Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling |
title_full_unstemmed | Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling |
title_short | Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling |
title_sort | two monogenetic disorders, activated pi3-kinase-δ syndrome 2 and smith–magenis syndrome, in one patient: case report and a literature review of neurodevelopmental impact in primary immunodeficiencies associated with disturbed pi3k signaling |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8266209/ https://www.ncbi.nlm.nih.gov/pubmed/34249818 http://dx.doi.org/10.3389/fped.2021.688022 |
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