Research graph
References from Genetic Testing in Clinical Immunology: What to Know and How to Do It. Local targets link to admitted publications; unresolved targets remain external evidence.
Common variable immunodeficiency: more pathways than roads to Rome
10.1146/annurev-pathmechdis-031521-024229 · 2023 · External reference
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
10.70962/jhi.20250003 · 2025 · External reference
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity
10.70962/jhi.20250002 · 2025 · External reference
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity
10.1016/j.jaci.2023.11.022 · 2024 · External reference
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
10.1056/nejmoa1306555 · 2013 · External reference
Disparities in genetic testing for inborn errors of immunity
10.1016/j.jaip.2024.11.011 · 2025 · External reference
The side effects of translational omics: overtesting, overdiagnosis, overtreatment
10.1515/cclm-2015-0762 · 2016 · External reference
2025 Inborn errors of immunity practice parameter: Guidance from the Joint Task Force on Practice Parameters, the American Academy of Allergy
2026 · External reference
Clinical genetics and genomics for the immunologist: a primer
10.1016/j.iac.2025.01.002 · 2025 · External reference
Wiskott-Aldrich syndrome with IgA nephropathy: a case report and literature review
10.1007/s11255-012-0178-0 · 2013 · External reference
Artificial intelligence and machine learning for inborn errors of immunity: current state and future promise
10.1016/j.jaip.2024.08.012 · 2024 · External reference
Evaluation of the 10 warning signs in primary and secondary immunodeficient patients
10.3389/fimmu.2022.900055 · 2022 · External reference
Current perspectives and challenges of using artificial intelligence in immunodeficiencies
10.1016/j.jaci.2025.06.015 · 2025 · External reference
Practice parameter for the diagnosis and management of primary immunodeficiency
10.1016/j.jaci.2015.04.049 · 2015 · External reference
Inborn errors of immunity: a role for functional testing and flow cytometry in aiding clinical diagnosis
10.1016/j.jaip.2023.03.049 · 2023 · External reference
The current landscape of genetic test stewardship: a multi-center prospective study
10.1002/jgc4.1403 · 2021 · External reference
The “genetic test request”: a genomic stewardship intervention for inpatient exome and genome orders at a tertiary pediatric hospital
10.1016/j.gim.2024.101330 · 2025 · External reference
ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
10.1016/j.gim.2025.101454 · 2025 · External reference
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
10.1038/gim.2013.73 · 2013 · External reference
Quantifying the diagnostic odyssey burden among persons with inborn errors of immunity
10.1007/s10875-024-01855-x · 2025 · External reference
Next-generation sequencing in the field of primary immunodeficiencies: current yield, challenges, and future perspectives
10.1007/s12016-021-08838-5 · 2021 · External reference
Inborn errors of immunity: manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients
10.70962/jhi.20250007 · 2025 · External reference
Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: a call for access to genetic testing
10.1111/pai.13571 · 2021 · External reference
Delineating the clinical and immunologic characteristics: a comparative study of inborn errors of immunity in adult versus pediatric diagnosed
10.1159/000540538 · 2024 · External reference
Shorter diagnostic delay in Polish adult patients with common variable immunodeficiency and symptom onset after 1999
10.3389/fimmu.2020.00982 · 2020 · External reference
Diagnostic disparities in inborn errors of immunity: from clinical suspicion to diagnosis
2025 · External reference
Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey
10.1038/s41431-024-01604-z · 2024 · External reference
HiFi long-read genomes for difficult-to-detect, clinically relevant variants
10.1016/j.ajhg.2024.12.013 · 2025 · External reference
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
10.1186/s13073-023-01270-8 · 2023 · External reference
Somatic mosaicism in genetic errors of immunity
10.1016/j.jaci.2024.11.038 · 2025 · External reference
The clinical imperative for inclusivity: race, ethnicity, and ancestry (REA) in genomics
10.1002/humu.23644 · 2018 · External reference
Exome variant discrepancies due to reference-genome differences
10.1016/j.ajhg.2021.05.011 · 2021 · External reference
Variant interpretation using population databases: lessons from gnomAD
10.1002/humu.24309 · 2022 · External reference
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease
10.1002/humu.24380 · 2022 · External reference
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
10.1093/nar/gki033 · 2005 · External reference
Nature and nurture: understanding phenotypic variation in inborn errors of immunity
10.3389/fcimb.2023.1183142 · 2023 · External reference
OTULIN-related conditions: report of a new case and review of the literature using GenIA
10.1016/j.clim.2024.110292 · 2024 · External reference
Multiplexed assays of variant effect for clinical variant interpretation
10.1038/s41576-025-00870-x · 2026 · External reference
Rates and classification of variants of uncertain significance in hereditary disease genetic testing
10.1001/jamanetworkopen.2023.39571 · 2023 · External reference
Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment
10.1016/j.cell.2025.05.037 · 2025 · External reference
Multiplexed functional assessment of genetic variants in CARD11
10.1016/j.ajhg.2020.10.015 · 2020 · External reference
Deep mutational scanning reveals pharmacologically relevant insights into TYK2 signaling and disease
2025 · External reference
Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers
10.1186/s13073-021-00984-x · 2021 · External reference
Expanding the diagnostic toolbox for complex genetic immune disorders
10.1016/j.jaci.2024.11.022 · 2025 · External reference
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency
2023 · External reference
The 1000 Genomes Project: welcome to a new world
10.3747/pdi.2015.00261 · 2015 · External reference
Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges
10.1093/bib/bbad508 · 2024 · External reference
Deep sequencing of 10,000 human genomes
10.1073/pnas.1613365113 · 2016 · External reference
Predicting splicing from primary sequence with deep learning
10.1016/j.cell.2018.12.015 · 2019 · External reference
Predicting expression-altering promoter mutations with deep learning
10.1126/science.ads7373 · 2025 · External reference
Advancing regulatory variant effect prediction with AlphaGenome
10.1038/s41586-025-10014-0 · 2026 · External reference
Long-read RNA sequencing: a transformative technology for exploring transcriptome complexity in human diseases
10.1016/j.ymthe.2024.11.025 · 2025 · External reference
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
10.1126/scitranslmed.aal5209 · 2017 · External reference
Toward transcriptomics as a primary tool for rare disease investigation
2022 · External reference
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
10.1186/s13073-022-01019-9 · 2022 · External reference
ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants
10.1038/s41467-024-52474-4 · 2024 · External reference
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
10.1186/s13073-022-01073-3 · 2022 · External reference
Understanding the role of functional noncoding variation in human diseases with lessons from immunity
10.1146/annurev-genom-020625-084652 · 2026 · External reference
Monoallelic expression can govern penetrance of inborn errors of immunity
10.1038/s41586-024-08346-4 · 2025 · External reference
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
10.1038/nm.3746 · 2014 · External reference
A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice
10.1172/jci.insight.162695 · 2022 · External reference
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
10.1038/ng756 · 2001 · External reference
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome
10.1086/513443 · 2007 · External reference
Mutations in the gene encoding the 3’-5’ DNA exonuclease TREX1 are associated with systemic lupus erythematosus
10.1038/ng2091 · 2007 · External reference
Familial Mediterranean fever
1993 · External reference
E1021K Homozygous mutation in PIK3CD leads to activated PI3K-delta syndrome 1
10.1007/s10875-020-00749-y · 2020 · External reference
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants
10.1016/j.jaci.2023.08.036 · 2024 · External reference
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
10.1038/ng.3459 · 2016 · External reference
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes
10.1182/blood-2008-02-141937 · 2009 · External reference
Arg206Cys substitution in DNASE1L3 causes a defect in DNASE1L3 protein secretion that confers risk of systemic lupus erythematosus
10.1136/annrheumdis-2020-218810 · 2021 · External reference
Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing
10.1016/s0021-9258(19)50430-6 · 1992 · External reference
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant
10.1126/sciimmunol.aau8714 · 2018 · External reference
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease
10.1038/35079107 · 2001 · External reference
The functional TNFAIP3 rs2230926T/G (Phe127Cys) variant confers risk to systemic lupus erythematosus in a Latin American population
10.1016/j.humimm.2023.110736 · 2024 · External reference
Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolution
10.1016/j.jaci.2026.02.002 · 2026 · External reference
The impact of the Eurofever criteria and the new InFevers MEFV classification in real life: results from a large international FMF cohort
10.1016/j.semarthrit.2022.151957 · 2022 · External reference
Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency
10.70962/jhi.20250016 · 2025 · External reference
NOD2 and Crohn’s disease clinical practice: from epidemiology to diagnosis and therapy, rewired
10.1093/ibd/izae075 · 2025 · External reference
Genome-wide association identifies diverse causes of common variable immunodeficiency
10.1016/j.jaci.2011.02.039 · 2011 · External reference
FinnGen provides genetic insights from a well-phenotyped isolated population
10.1038/s41586-022-05473-8 · 2023 · External reference
The “All of Us” Research Program
10.1056/nejmsr1809937 · 2019 · External reference
The UK Biobank resource with deep phenotyping and genomic data
10.1038/s41586-018-0579-z · 2018 · External reference
Anti-cytokine autoantibodies: mechanistic insights and disease associations
10.1038/s41577-023-00933-2 · 2024 · External reference
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin
10.1126/science.abm6380 · 2022 · External reference
Protective role of antibodies in enteric virus infections: lessons from primary and secondary immune deficiencies
10.1111/imr.13402 · 2024 · External reference
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
10.1016/j.gim.2023.100812 · 2023 · External reference
Reported demographics of primary immunodeficiency diseases in the United States
10.1016/j.jaip.2025.06.015 · 2025 · External reference
Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis
10.1182/blood.2024024499 · 2024 · External reference
Measurement of oxidative burst in neutrophils
10.1007/978-1-61779-527-5_8 · 2012 · External reference
The Fas-mediated apoptosis assay: from concept to clinical application
10.1016/j.jim.2025.113812 · 2025 · External reference
Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: a systematic review
10.1111/pai.13535 · 2021 · External reference
Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series
10.15586/aei.v52i5.1115 · 2024 · External reference
Double-negative T cells in pediatric rheumatic diseases
10.3345/cep.2023.01760 · 2024 · External reference
Causes of double-negative T-cell lymphocytosis in children and adults
10.1136/jclinpath-2019-206255 · 2020 · External reference
