Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond Article Swipe
Guillem de Valles‐Ibáñez
,
Ana Esteve‐Solé
,
M. Piquer
,
Europa Azucena González‐Navarro
,
Jessica Hernández-Rodríguez
,
Hafid Laayouni
,
Eva González‐Roca
,
A.M. Plaza-Martín
,
Àngela Deyà‐Martínez
,
Andrea Martín‐Nalda
,
Mónica Martínez‐Gallo
,
Marina García-Prat
,
Lucía del Pino Molina
,
Ivon Cuscó
,
Marta Codina‐Solà
,
Laura Batlle-Masó
,
Manuel Solís-Moruno
,
Tomàs Marquès‐Bonet
,
Elena Bosch
,
Eduardo López‐Granados
,
Juan I. Aróstegui
,
Pere Soler‐Palacín
,
Roger Colobrán
,
Jordi Yagüe
,
Laia Alsina
,
Manel Juan
,
Ferrán Casals
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.3389/fimmu.2018.00636
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.3389/fimmu.2018.00636
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological criteria, after exclusion of other diseases that can cause similar phenotypes. Currently, less than 20% of cases of CVID have a known underlying genetic cause. We have analyzed whole-exome sequencing and copy number variants data of 36 children and adolescents diagnosed with CVID and healthy relatives to estimate the proportion of monogenic cases. We have replicated an association of CVID to p.C104R in TNFRSF13B and reported the second case of homozygous patient to date. Our results also identify five causative genetic variants in LRBA, CTLA4, NFKB1, and PIK3R1, as well as other very likely causative variants in PRKCD, MAPK8, or DOCK8 among others. We experimentally validate the effect of the LRBA stop-gain mutation which abolishes protein production and downregulates the expression of CTLA4, and of the frameshift indel in CTLA4 producing expression downregulation of the protein. Our results indicate a monogenic origin of at least 15-24% of the CVID cases included in the study. The proportion of monogenic patients seems to be lower in CVID than in other PID that have also been analyzed by whole exome or targeted gene panels sequencing. Regardless of the exact proportion of CVID monogenic cases, other genetic models have to be considered for CVID. We propose that because of its prevalence and other features as intermediate penetrancies and phenotypic variation within families, CVID could fit with other more complex genetic scenarios. In particular, in this work, we explore the possibility of CVID being originated by an oligogenic model with the presence of heterozygous mutations in interacting proteins or by the accumulation of detrimental variants in particular immunological pathways, as well as perform association tests to detect association with rare genetic functional variation in the CVID cohort compared to healthy controls.
Related Topics
Concepts
Common variable immunodeficiency
Hypogammaglobulinemia
Primary immunodeficiency
Exome sequencing
Frameshift mutation
Genetics
Immunology
Indel
Biology
Mutation
Medicine
Gene
Genotype
Antibody
Immune system
Single-nucleotide polymorphism
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fimmu.2018.00636
- OA Status
- gold
- Cited By
- 149
- References
- 99
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2804407076
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2804407076Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3389/fimmu.2018.00636Digital Object Identifier
- Title
-
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and BeyondWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2018Year of publication
- Publication date
-
2018-05-14Full publication date if available
- Authors
-
Guillem de Valles‐Ibáñez, Ana Esteve‐Solé, M. Piquer, Europa Azucena González‐Navarro, Jessica Hernández-Rodríguez, Hafid Laayouni, Eva González‐Roca, A.M. Plaza-Martín, Àngela Deyà‐Martínez, Andrea Martín‐Nalda, Mónica Martínez‐Gallo, Marina García-Prat, Lucía del Pino Molina, Ivon Cuscó, Marta Codina‐Solà, Laura Batlle-Masó, Manuel Solís-Moruno, Tomàs Marquès‐Bonet, Elena Bosch, Eduardo López‐Granados, Juan I. Aróstegui, Pere Soler‐Palacín, Roger Colobrán, Jordi Yagüe, Laia Alsina, Manel Juan, Ferrán CasalsList of authors in order
- Landing page
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https://doi.org/10.3389/fimmu.2018.00636Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.3389/fimmu.2018.00636Direct OA link when available
- Concepts
-
Common variable immunodeficiency, Hypogammaglobulinemia, Primary immunodeficiency, Exome sequencing, Frameshift mutation, Genetics, Immunology, Indel, Biology, Mutation, Medicine, Gene, Genotype, Antibody, Immune system, Single-nucleotide polymorphismTop concepts (fields/topics) attached by OpenAlex
- Cited by
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149Total citation count in OpenAlex
- Citations by year (recent)
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2025: 14, 2024: 17, 2023: 16, 2022: 25, 2021: 30Per-year citation counts (last 5 years)
- References (count)
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99Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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