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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorFranco Jarava, Clara
dc.contributor.authorValenzuela Palafoll, Ma Irene
dc.contributor.authorRivière, Jacques
dc.contributor.authorGarcía Prat, Marina
dc.contributor.authorMartínez Gallo, Mónica
dc.contributor.authorDieli Crimi, Romina
dc.contributor.authorCastells Sarret, Neus
dc.contributor.authorBatlle Masó, Laura
dc.contributor.authorSoler Palacín, Pere
dc.contributor.authorColobran Oriol, Roger
dc.date.accessioned2022-09-13T09:27:08Z
dc.date.available2022-09-13T09:27:08Z
dc.date.issued2022-06-17
dc.identifier.citationFranco-Jarava C, Valenzuela I, Riviere JG, Garcia-Prat M, Martínez-Gallo M, Dieli-Crimi R, et al. Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report. Front Immunol. 2022 Jun 17;13:897975.
dc.identifier.issn1664-3224
dc.identifier.urihttp://hdl.handle.net/11351/8176
dc.descriptionChromosomal rearrangements; Primary immunodeficiencies; Syndromic immunodeficiencies
dc.description.abstractSyndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that can affect the development of non-immune organs and systems. The genetic basis of these immunodeficiencies is highly diverse, ranging from monogenic defects to large chromosomal aberrations. Antibody deficiency is the most prevalent immunological abnormality in patients with syndromic immunodeficiencies caused by chromosomal rearrangements, and usually manifests as a common variable immunodeficiency (CVID)-like phenotype. Here we describe a patient with a complex phenotype, including neurodevelopmental delay, dysmorphic features, malformations, and CVID (hypogammaglobulinemia, reduced pre-switch and switch memory B cells, and impaired vaccine response). Microarray-based comparative genomic hybridization (aCGH) revealed a 13-Mb deletion on chromosome 4q22.2-q24 involving 53 genes, some of which were related to the developmental manifestations in our patient. Although initially none of the affected genes could be linked to his CVID phenotype, subsequent reanalysis identified NFKB1 haploinsufficiency as the cause. This study underscores the value of periodic reanalysis of unsolved genetic studies performed with high-throughput technologies (eg, next-generation sequencing and aCGH). This is important because of the ongoing incorporation of new data establishing the relationship between genes and diseases. In the present case, NFKB1 had not been associated with human disease at the time aCGH was performed. Eight years later, reanalysis of the genes included in the chromosome 4 deletion enabled us to identify NFKB1 haploinsufficiency as the genetic cause of our patient’s CVID. In the future, other genes included in the deletion may be linked to human disease, allowing us to better define the molecular basis of our patient’s complex clinical phenotype.
dc.language.isoeng
dc.publisherFrontiers Media
dc.relation.ispartofseriesFrontiers in Immunology;13
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectAnomalies cromosòmiques
dc.subjectSíndromes de deficiència immunitària - Aspectes genètics
dc.subject.meshCommon Variable Immunodeficiency
dc.subject.meshImmunologic Deficiency Syndromes
dc.subject.meshChromosome Aberrations
dc.titleCommon Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.3389/fimmu.2022.897975
dc.subject.decsinmunodeficiencia variable común
dc.subject.decssíndromes de inmunodeficiencia
dc.subject.decsaberraciones cromosómicas
dc.relation.publishversionhttps://doi.org/10.3389/fimmu.2022.897975
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Franco-Jarava C, Martínez-Gallo M, Dieli-Crimi R] Divisió d’Immunologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Grup de Recerca Traslacional en Immunologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain. [Valenzuela I, Castells N] Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Riviere JG, Garcia-Prat M, Soler-Palacin P] Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain. Grup de Recerca d’Infecció en el Pacient Pediàtric Immunodeprimit, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Batlle-Masó L] Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain. Grup de Recerca d’Infecció en el Pacient Pediàtric Immunodeprimit, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Colobran R] Divisió d’Immunologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Grup de Recerca Traslacional en Immunologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain. Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.identifier.pmid35784294
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/PE2013-2016/PI17%2F00660
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/PE2017-2020/PI20%2F00761
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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