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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
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.
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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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