Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity Article Swipe
Najiba Alioua
,
Nathalie Lambert
,
Mathilde Puel
,
Sylvain Hanein
,
Paul Bastard
,
Mathieu Fusaro
,
Marie Jaffray
,
Bernardita Medel
,
Lydia Khellaf
,
Yoann Seeleuthner
,
Maria Perin
,
Corinne Jacques
,
Marlène Pasquet
,
Laura Olivier‐Gougenheim
,
Fernando E. Sepulveda
,
Tom Le Voyer
,
Aurélie Cobat
,
Patrick Nitschké
,
L. Galicier
,
N. Schleinitz
,
Éric Oksenhendler
,
Marion Malphettes
,
Bénédicte Neven
,
Despina Moshous
,
Felipe Suárez
,
Claire Fieschi
,
Jean‐Laurent Casanova
,
Geneviève de Saint Basile
,
Guillaume Dorval
,
Capucine Pïcard
,
Jacinta Bustamante
,
Peng Zhang
,
Jérémie Rosain
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.70962/jhi.20250041
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.70962/jhi.20250041
Clinical laboratories searching for pathogenic variants focus mostly on the protein-coding region and corresponding essential splicing sites. Screening for variants in intronic regions requires dedicated bioinformatics tools and detailed experimental studies to confirm deleteriousness and pathogenicity. We report intronic variants in a cohort of eight patients from seven kindreds with unexplained inborn errors of immunity (IEI). Using ad hoc bioinformatics tools, we identified seven kindreds carrying three branchpoint variants at three loci (BTK, SH2D1A, and WAS) and four AG-gain acceptor site variants at another four loci (DOCK8, NFKB1, STXBP2, and UNC13D). The variants were located between positions −9 and −49 relative to the wild-type acceptor site. The deleteriousness and, thus, pathogenicity of these variants were confirmed by exon-captured transcriptome studies and flow cytometry analyses of protein production or function. Our findings indicate that intronic variants should be systematically screened and investigated, even in clinical laboratory settings.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.70962/jhi.20250041
- OA Status
- diamond
- Cited By
- 1
- References
- 48
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4413075906
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4413075906Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.70962/jhi.20250041Digital Object Identifier
- Title
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Intronic branchpoint-to-acceptor variants underlying inborn errors of immunityWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
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2025-07-17Full publication date if available
- Authors
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Najiba Alioua, Nathalie Lambert, Mathilde Puel, Sylvain Hanein, Paul Bastard, Mathieu Fusaro, Marie Jaffray, Bernardita Medel, Lydia Khellaf, Yoann Seeleuthner, Maria Perin, Corinne Jacques, Marlène Pasquet, Laura Olivier‐Gougenheim, Fernando E. Sepulveda, Tom Le Voyer, Aurélie Cobat, Patrick Nitschké, L. Galicier, N. Schleinitz, Éric Oksenhendler, Marion Malphettes, Bénédicte Neven, Despina Moshous, Felipe Suárez, Claire Fieschi, Jean‐Laurent Casanova, Geneviève de Saint Basile, Guillaume Dorval, Capucine Pïcard, Jacinta Bustamante, Peng Zhang, Jérémie RosainList of authors in order
- Landing page
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https://doi.org/10.70962/jhi.20250041Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
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diamondOpen access status per OpenAlex
- OA URL
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https://doi.org/10.70962/jhi.20250041Direct OA link when available
- Concepts
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Genetics, RNA splicing, Biology, Exon, Coding region, Computational biology, Gene, RNATop concepts (fields/topics) attached by OpenAlex
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1Total citation count in OpenAlex
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2025: 1Per-year citation counts (last 5 years)
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48Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.to | 31, 101 |
| abstract_inverted_index.we | 61 |
| abstract_inverted_index.Our | 129 |
| abstract_inverted_index.The | 91, 106 |
| abstract_inverted_index.and | 12, 27, 34, 74, 76, 89, 98, 120, 139 |
| abstract_inverted_index.for | 3, 18 |
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| abstract_inverted_index.the | 9, 102 |
| abstract_inverted_index.WAS) | 75 |
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| abstract_inverted_index.even | 141 |
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| abstract_inverted_index.four | 77, 84 |
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| abstract_inverted_index.with | 49 |
| abstract_inverted_index.−9 | 97 |
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| abstract_inverted_index.focus | 6 |
| abstract_inverted_index.seven | 47, 63 |
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| abstract_inverted_index.three | 66, 70 |
| abstract_inverted_index.thus, | 109 |
| abstract_inverted_index.tools | 26 |
| abstract_inverted_index.−49 | 99 |
| abstract_inverted_index.(IEI). | 55 |
| abstract_inverted_index.NFKB1, | 87 |
| abstract_inverted_index.cohort | 42 |
| abstract_inverted_index.errors | 52 |
| abstract_inverted_index.inborn | 51 |
| abstract_inverted_index.mostly | 7 |
| abstract_inverted_index.region | 11 |
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| abstract_inverted_index.should | 135 |
| abstract_inverted_index.sites. | 16 |
| abstract_inverted_index.tools, | 60 |
| abstract_inverted_index.(DOCK8, | 86 |
| abstract_inverted_index.AG-gain | 78 |
| abstract_inverted_index.SH2D1A, | 73 |
| abstract_inverted_index.STXBP2, | 88 |
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| abstract_inverted_index.protein | 125 |
| abstract_inverted_index.regions | 22 |
| abstract_inverted_index.studies | 30, 119 |
| abstract_inverted_index.Clinical | 0 |
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| abstract_inverted_index.indicate | 131 |
| abstract_inverted_index.intronic | 21, 38, 133 |
| abstract_inverted_index.kindreds | 48, 64 |
| abstract_inverted_index.patients | 45 |
| abstract_inverted_index.relative | 100 |
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| abstract_inverted_index.screened | 138 |
| abstract_inverted_index.splicing | 15 |
| abstract_inverted_index.variants | 5, 19, 39, 68, 81, 92, 113, 134 |
| abstract_inverted_index.Screening | 17 |
| abstract_inverted_index.confirmed | 115 |
| abstract_inverted_index.cytometry | 122 |
| abstract_inverted_index.dedicated | 24 |
| abstract_inverted_index.essential | 14 |
| abstract_inverted_index.function. | 128 |
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| abstract_inverted_index.identified | 62 |
| abstract_inverted_index.laboratory | 144 |
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| abstract_inverted_index.transcriptome | 118 |
| abstract_inverted_index.bioinformatics | 25, 59 |
| abstract_inverted_index.pathogenicity. | 35 |
| abstract_inverted_index.protein-coding | 10 |
| abstract_inverted_index.systematically | 137 |
| abstract_inverted_index.deleteriousness | 33, 107 |
| cited_by_percentile_year.max | 95 |
| cited_by_percentile_year.min | 91 |
| countries_distinct_count | 4 |
| institutions_distinct_count | 33 |
| citation_normalized_percentile.value | 0.83852964 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |