Genetic Testing in Clinical Immunology: What to Know and How to Do It

Causes of double-negative T-cell lymphocytosis in children and adults

10.1136/jclinpath-2019-206255 · doi-reference

Double-negative T cells in pediatric rheumatic diseases

10.3345/cep.2023.01760 · doi-reference

Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series

10.15586/aei.v52i5.1115 · doi-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 · doi-reference

The Fas-mediated apoptosis assay: from concept to clinical application

10.1016/j.jim.2025.113812 · doi-reference

Measurement of oxidative burst in neutrophils

10.1007/978-1-61779-527-5_8 · doi-reference

Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis

10.1182/blood.2024024499 · doi-reference

Reported demographics of primary immunodeficiency diseases in the United States

10.1016/j.jaip.2025.06.015 · doi-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 · doi-reference

Protective role of antibodies in enteric virus infections: lessons from primary and secondary immune deficiencies

10.1111/imr.13402 · doi-reference

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin

10.1126/science.abm6380 · doi-reference

Anti-cytokine autoantibodies: mechanistic insights and disease associations

10.1038/s41577-023-00933-2 · doi-reference

The UK Biobank resource with deep phenotyping and genomic data

10.1038/s41586-018-0579-z · doi-reference

The “All of Us” Research Program

10.1056/nejmsr1809937 · doi-reference

FinnGen provides genetic insights from a well-phenotyped isolated population

10.1038/s41586-022-05473-8 · doi-reference

Genome-wide association identifies diverse causes of common variable immunodeficiency

10.1016/j.jaci.2011.02.039 · doi-reference

NOD2 and Crohn’s disease clinical practice: from epidemiology to diagnosis and therapy, rewired

10.1093/ibd/izae075 · doi-reference

Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency

10.70962/jhi.20250016 · doi-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 · doi-reference

Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolution

10.1016/j.jaci.2026.02.002 · doi-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 · doi-reference

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease

10.1038/35079107 · doi-reference

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant

10.1126/sciimmunol.aau8714 · doi-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 · doi-reference

Arg206Cys substitution in DNASE1L3 causes a defect in DNASE1L3 protein secretion that confers risk of systemic lupus erythematosus

10.1136/annrheumdis-2020-218810 · doi-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 · doi-reference

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

10.1038/ng.3459 · doi-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 · doi-reference

E1021K Homozygous mutation in PIK3CD leads to activated PI3K-delta syndrome 1

10.1007/s10875-020-00749-y · doi-reference

Mutations in the gene encoding the 3’-5’ DNA exonuclease TREX1 are associated with systemic lupus erythematosus

10.1038/ng2091 · doi-reference

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

10.1086/513443 · doi-reference

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

10.1038/ng756 · doi-reference

A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice

10.1172/jci.insight.162695 · doi-reference

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

10.1038/nm.3746 · doi-reference

Monoallelic expression can govern penetrance of inborn errors of immunity

10.1038/s41586-024-08346-4 · doi-reference

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

10.1186/s13073-022-01073-3 · doi-reference

ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants

10.1038/s41467-024-52474-4 · doi-reference

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

10.1186/s13073-022-01019-9 · doi-reference

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

10.1126/scitranslmed.aal5209 · doi-reference

Long-read RNA sequencing: a transformative technology for exploring transcriptome complexity in human diseases

10.1016/j.ymthe.2024.11.025 · doi-reference