Cargando…

Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms

Ataxia-telangiectasia (A-T) is a neurodegenerative and primary immunodeficiency disorder (PID) characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the indi...

Descripción completa

Detalles Bibliográficos
Autores principales: Blanchard-Rohner, Geraldine, Peirolo, Anna, Coulon, Ludivine, Korff, Christian, Horvath, Judit, Burkhard, Pierre R., Gumy-Pause, Fabienne, Ranza, Emmanuelle, Jandus, Peter, Dibra, Harpreet, Taylor, Alexander Malcolm R., Fluss, Joel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831727/
https://www.ncbi.nlm.nih.gov/pubmed/35154108
http://dx.doi.org/10.3389/fimmu.2022.791522
_version_ 1784648566054060032
author Blanchard-Rohner, Geraldine
Peirolo, Anna
Coulon, Ludivine
Korff, Christian
Horvath, Judit
Burkhard, Pierre R.
Gumy-Pause, Fabienne
Ranza, Emmanuelle
Jandus, Peter
Dibra, Harpreet
Taylor, Alexander Malcolm R.
Fluss, Joel
author_facet Blanchard-Rohner, Geraldine
Peirolo, Anna
Coulon, Ludivine
Korff, Christian
Horvath, Judit
Burkhard, Pierre R.
Gumy-Pause, Fabienne
Ranza, Emmanuelle
Jandus, Peter
Dibra, Harpreet
Taylor, Alexander Malcolm R.
Fluss, Joel
author_sort Blanchard-Rohner, Geraldine
collection PubMed
description Ataxia-telangiectasia (A-T) is a neurodegenerative and primary immunodeficiency disorder (PID) characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient’s needs. Besides the classical ataxia-telangiectasia (classical A-T) phenotype, a variant phenotype (variant A-T) exists with partly overlapping but some distinctive disease characteristics. Here we present a case series of 6 patients with classical A-T and variant A-T, which illustrates the phenotypic variability of A-T that can present in childhood with prominent extrapyramidal features, with or without cerebellar ataxia. We report the clinical data, together with a detailed genotype description, immunological analyses, and related expression of the ATM protein. We show that the presence of some residual ATM kinase activity leads to the clinical phenotype variant A-T that differs from the classical A-T. Our data illustrate that the diagnosis of the variant form of A-T can be delayed and difficult, while early recognition of the variant form as well as the classical A-T is a prerequisite for providing a correct prognosis and appropriate rehabilitation and support, including the avoidance of diagnostic X-ray procedures, given the increased risk of malignancies and the higher risk for side effects of subsequent cancer treatment.
format Online
Article
Text
id pubmed-8831727
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-88317272022-02-12 Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms Blanchard-Rohner, Geraldine Peirolo, Anna Coulon, Ludivine Korff, Christian Horvath, Judit Burkhard, Pierre R. Gumy-Pause, Fabienne Ranza, Emmanuelle Jandus, Peter Dibra, Harpreet Taylor, Alexander Malcolm R. Fluss, Joel Front Immunol Immunology Ataxia-telangiectasia (A-T) is a neurodegenerative and primary immunodeficiency disorder (PID) characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient’s needs. Besides the classical ataxia-telangiectasia (classical A-T) phenotype, a variant phenotype (variant A-T) exists with partly overlapping but some distinctive disease characteristics. Here we present a case series of 6 patients with classical A-T and variant A-T, which illustrates the phenotypic variability of A-T that can present in childhood with prominent extrapyramidal features, with or without cerebellar ataxia. We report the clinical data, together with a detailed genotype description, immunological analyses, and related expression of the ATM protein. We show that the presence of some residual ATM kinase activity leads to the clinical phenotype variant A-T that differs from the classical A-T. Our data illustrate that the diagnosis of the variant form of A-T can be delayed and difficult, while early recognition of the variant form as well as the classical A-T is a prerequisite for providing a correct prognosis and appropriate rehabilitation and support, including the avoidance of diagnostic X-ray procedures, given the increased risk of malignancies and the higher risk for side effects of subsequent cancer treatment. Frontiers Media S.A. 2022-01-28 /pmc/articles/PMC8831727/ /pubmed/35154108 http://dx.doi.org/10.3389/fimmu.2022.791522 Text en Copyright © 2022 Blanchard-Rohner, Peirolo, Coulon, Korff, Horvath, Burkhard, Gumy-Pause, Ranza, Jandus, Dibra, Taylor and Fluss 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 Immunology
Blanchard-Rohner, Geraldine
Peirolo, Anna
Coulon, Ludivine
Korff, Christian
Horvath, Judit
Burkhard, Pierre R.
Gumy-Pause, Fabienne
Ranza, Emmanuelle
Jandus, Peter
Dibra, Harpreet
Taylor, Alexander Malcolm R.
Fluss, Joel
Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
title Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
title_full Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
title_fullStr Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
title_full_unstemmed Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
title_short Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
title_sort childhood-onset movement disorders can mask a primary immunodeficiency: 6 cases of classical ataxia-telangiectasia and variant forms
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831727/
https://www.ncbi.nlm.nih.gov/pubmed/35154108
http://dx.doi.org/10.3389/fimmu.2022.791522
work_keys_str_mv AT blanchardrohnergeraldine childhoodonsetmovementdisorderscanmaskaprimaryimmunodeficiency6casesofclassicalataxiatelangiectasiaandvariantforms
AT peiroloanna childhoodonsetmovementdisorderscanmaskaprimaryimmunodeficiency6casesofclassicalataxiatelangiectasiaandvariantforms
AT coulonludivine childhoodonsetmovementdisorderscanmaskaprimaryimmunodeficiency6casesofclassicalataxiatelangiectasiaandvariantforms
AT korffchristian childhoodonsetmovementdisorderscanmaskaprimaryimmunodeficiency6casesofclassicalataxiatelangiectasiaandvariantforms
AT horvathjudit childhoodonsetmovementdisorderscanmaskaprimaryimmunodeficiency6casesofclassicalataxiatelangiectasiaandvariantforms
AT burkhardpierrer childhoodonsetmovementdisorderscanmaskaprimaryimmunodeficiency6casesofclassicalataxiatelangiectasiaandvariantforms
AT gumypausefabienne childhoodonsetmovementdisorderscanmaskaprimaryimmunodeficiency6casesofclassicalataxiatelangiectasiaandvariantforms
AT ranzaemmanuelle childhoodonsetmovementdisorderscanmaskaprimaryimmunodeficiency6casesofclassicalataxiatelangiectasiaandvariantforms
AT janduspeter childhoodonsetmovementdisorderscanmaskaprimaryimmunodeficiency6casesofclassicalataxiatelangiectasiaandvariantforms
AT dibraharpreet childhoodonsetmovementdisorderscanmaskaprimaryimmunodeficiency6casesofclassicalataxiatelangiectasiaandvariantforms
AT tayloralexandermalcolmr childhoodonsetmovementdisorderscanmaskaprimaryimmunodeficiency6casesofclassicalataxiatelangiectasiaandvariantforms
AT flussjoel childhoodonsetmovementdisorderscanmaskaprimaryimmunodeficiency6casesofclassicalataxiatelangiectasiaandvariantforms