Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site
Craig D. Platt,Michel J. Massaad,Brittney Cangemi,Birgitta Schmidt,Hasan Al-Dhekri,Raif S. Geha +5 more
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This article is published in The Journal of Allergy and Clinical Immunology.The article was published on 2017-07-01 and is currently open access. It has received 8 citations till now.read more
Citations
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Journal ArticleDOI
Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies
TL;DR: This review examines the uses of next-generation DNA sequencing (NGS) in the diagnosis of primary immunodeficiencies and the roles of NGS in newborn screening and precision therapeutics for individuals with PID.
Journal ArticleDOI
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology
Ivan K. Chinn,Ivan K. Chinn,Alice Y. Chan,Karin Chen,Janet Chou,Janet Chou,Morna J. Dorsey,Joud Hajjar,Joud Hajjar,Artemio M. Jongco,Artemio M. Jongco,Michael D. Keller,Lisa Kobrynski,Attila Kumánovics,Monica G. Lawrence,Jennifer W. Leiding,Jennifer W. Leiding,Patricia L. Lugar,Jordan S. Orange,Jordan S. Orange,Kiran Patel,Craig D. Platt,Craig D. Platt,Jennifer M. Puck,Nikita Raje,Nikita Raje,Neil Romberg,Neil Romberg,Maria A. Slack,Kathleen E. Sullivan,Kathleen E. Sullivan,Teresa K. Tarrant,Troy R. Torgerson,Troy R. Torgerson,Jolan E. Walter,Jolan E. Walter,Jolan E. Walter +36 more
TL;DR: A Work Group that reviewed and summarized information concerning appropriate methods, tools, and resources for evaluating variants identified by genetic testing developed summary statements and tables to guide the interpretation process.
Journal ArticleDOI
Acquired and Innate Immunity Impairment and Severe Disseminated Mycobacterium genavense Infection in a Patient With a NF-κB1 Deficiency.
Luis Ignacio Gonzalez-Granado,Raquel Ruiz-García,Javier Blas-Espada,José Manuel Moreno-Villares,Marta Germán-Díaz,Marta López-Nevado,Estela Paz-Artal,Oscar Toldos,Yolanda Rodriguez-Gil,Jaime de Inocencio,Nerea Domínguez-Pinilla,Luis M. Allende +11 more
TL;DR: The role of NF-κB1 in humans could be critical for the development of acquired and innate immunity and further highlights the role of human T cells in anti-mycobacterial immunity.
Journal ArticleDOI
The utility of flow cytometry for the diagnosis of primary immunodeficiencies.
Vijaya Knight,Vijaya Knight +1 more
TL;DR: While genetic analysis provides a definitive diagnosis for PIDs, flow cytometry is necessary to confirm or establish the immune phenotype of a gene mutation, providing a rapid means to identify an immunological defect at a relatively low cost.
Journal ArticleDOI
A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate
Beau Sylvester,Frederick Brindopke,Akiko Suzuki,Melissa Giron,Allyn Auslander,Richard L. Maas,Becky P. Tsai,Hanlin Gao,William P. Magee,Timothy C. Cox,Pedro A. Sanchez-Lara +10 more
TL;DR: This is the first study to identify a synonymous variant as a likely cause of NS-CL/P and highlights the care that should be taken by laboratories when considering and interpreting variants.
References
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Journal ArticleDOI
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
François Olivier Desmet,Dalil Hamroun,Marine Lalande,Gwenaëlle Collod-Béroud,Mireille Claustres,Christophe Béroud +5 more
TL;DR: Human Splicing Finder is designed, a tool to predict the effects of mutations on splicing signals or to identify splicing motifs in any human sequence, and it is shown that the mutation effect was correctly predicted in almost all cases.
Journal ArticleDOI
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.
Gene W. Yeo,Christopher B. Burge +1 more
TL;DR: The best models out-perform previous probabilistic models in the discrimination of human 5' and 3' splice sites from decoys and mechanistically motivated ways of comparing models are discussed.
Journal ArticleDOI
Real-time single-molecule observation of rolling-circle DNA replication
Nathan A. Tanner,Joseph J. Loparo,Samir M. Hamdan,Slobodan Jergic,Nicholas E. Dixon,Antoine M. van Oijen +5 more
TL;DR: By attaching a rolling-circle substrate to a TIRF microscope-mounted flow chamber, this method allows for rapid and precise characterization of the kinetics of DNA synthesis and the effects of replication inhibitors.
Journal ArticleDOI
Inborn errors of human JAKs and STATs.
TL;DR: The disorders arising from mutations in these five genes are reviewed, highlighting the way in which the molecular and cellular pathogenesis of these conditions has been clarified by the discovery of inborn errors of cytokines, hormones, and their receptors, including those interacting with JAKs and STATs.
Journal ArticleDOI
Exposing synonymous mutations
TL;DR: The diverse methods to understand the effects of synonymous mutations are reviewed and it is clear that synonymous variants are important in a variety of contexts, but there is no clear consensus on the approaches to identify and validate these changes.
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