ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 2 of them syntheses that pooled it.
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Who cites it
51 citing papers in PubMed, 2 syntheses or guidelines pooled it, 111 citations in OpenAlex.
- Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.Archives of public health = Archives belges de sante publique · 2023Pooled it
- Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.Journal of clinical immunology · 2019Pooled it
- APOBEC2 deficiency disrupts hematopoietic lineage commitment, resulting in emergence of dual identity lymphocytes in mice and humans.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Impaired mucosal IgA response to SARS-CoV-2 in patients with inborn errors of immunity.Frontiers in immunology · 2026Article
- Common Variable Immunodeficiency Disorders: A perspective from New Zealand.Clinical reviews in allergy & immunology · 2025Review
- Hyperimmunoglobulin syndromes: A review of HIGM, HIES, and HIDS.Journal of translational autoimmunity · 2025Review
- Re-evaluation of the contribution ofJournal of human immunity · 2025Article
- Genetics in a Danish Common Variable Immunodeficiency Cohort.Journal of clinical immunology · 2025Article
- Health Professionals' Preferences for Next-Generation Sequencing in the Diagnosis of Suspected Genetic Disorders in the Paediatric Population.Journal of personalized medicine · 2025Article
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- Clinical, immunological, and genetic landscape of common variable immunodeficiency in Morocco: a nationwide multicenter study.Frontiers in immunology · 2025Article
- A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs.Journal of clinical immunology · 2024Article
- The role of alternative pre-mRNA splicing in cancer progression.Cancer cell international · 2023Review
- The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages.Journal of clinical immunology · 2023Article
- Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity.Biology · 2023Article
- Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.Frontiers in immunology · 2023Article
- Information and Communication Technology (ICT) and youth unemployment in Africa.Quality & quantity · 2022Article
- Comprehensive Assessment of Skin Disorders in Patients with Common Variable Immunodeficiency (CVID).Journal of clinical immunology · 2022Article
- Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency.Journal of clinical immunology · 2022Article
- Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome.Journal of clinical immunology · 2022Article
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe etiology of 80% of patients with primary antibody deficiency (PAD), the second most common type of human immune system disorder after human immunodeficiency virus infection, is yet unknown.
methodsClinical/immunological phenotyping and exome sequencing of a cohort of 126 PAD patients (55.5% male, 95.2% childhood onset) born to predominantly consanguineous parents (82.5%) with unknown genetic defects were performed. The American College of Medical Genetics and Genomics criteria were used for validation of pathogenicity of the variants.
resultsThis genetic approach and subsequent immunological investigations identified potential disease-causing variants in 86 patients (68.2%); however, 27 of these patients (31.4%) carried autosomal dominant (24.4%) and X-linked (7%) gene defects. This genetic approach led to the identification of new phenotypes in 19 known genes (38 patients) and the discovery of a new genetic defect (CD70 pathogenic variants in 2 patients). Medical implications of a definite genetic diagnosis were reported in ~50% of the patients.
conclusionDue to misclassification of the conventional approach for targeted sequencing, employing next-generation sequencing as a preliminary step of molecular diagnostic approach to patients with PAD is crucial for management and treatment of the patients and their family members.
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