{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T20:52:43Z","timestamp":1791406363901,"version":"4.3.3"},"reference-count":94,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jaci-inpractice.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Allergy and Clinical Immunology: In Practice"],"published-print":{"date-parts":[[2026,10]]},"DOI":"10.1016\/j.jaip.2026.06.034","type":"journal-article","created":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:40:31Z","timestamp":1791366031000},"page":"2200-2208.e6","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Testing in Clinical Immunology: What to Know and How to Do It"],"prefix":"10.1016","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4427-2158","authenticated-orcid":false,"given":"Rui","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan K.","family":"Chinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan S.","family":"Orange","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao P.","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaip.2026.06.034_bib1","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1146\/annurev-pathmechdis-031521-024229","article-title":"Common variable immunodeficiency: more pathways than roads to Rome","volume":"18","author":"Peng","year":"2023","journal-title":"Annu Rev Pathol"},{"key":"10.1016\/j.jaip.2026.06.034_bib2","doi-asserted-by":"crossref","DOI":"10.70962\/jhi.20250003","article-title":"Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee","volume":"1","author":"Poli","year":"2025","journal-title":"J Hum Immun"},{"key":"10.1016\/j.jaip.2026.06.034_bib3","doi-asserted-by":"crossref","DOI":"10.70962\/jhi.20250002","article-title":"The 2024 update of IUIS phenotypic classification of human inborn errors of immunity","volume":"1","author":"Bousfiha","year":"2025","journal-title":"J Hum Immun"},{"key":"10.1016\/j.jaip.2026.06.034_bib4","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.jaci.2023.11.022","article-title":"GenIA, the Genetic Immunology Advisor database for inborn errors of immunity","volume":"153","author":"Caballero-Oteyza","year":"2024","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib5","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaip.2026.06.034_bib6","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.jaip.2024.11.011","article-title":"Disparities in genetic testing for inborn errors of immunity","volume":"13","author":"Gilbert","year":"2025","journal-title":"J Allergy Clin Immunol Pract"},{"key":"10.1016\/j.jaip.2026.06.034_bib7","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1515\/cclm-2015-0762","article-title":"The side effects of translational omics: overtesting, overdiagnosis, overtreatment","volume":"54","author":"Diamandis","year":"2016","journal-title":"Clin Chem Lab Med"},{"key":"10.1016\/j.jaip.2026.06.034_bib8","first-page":"426","article-title":"2025 Inborn errors of immunity practice parameter: Guidance from the Joint Task Force on Practice Parameters, the American Academy of Allergy","volume":"136","author":"Orange","year":"2026","journal-title":"Asthma & Immunology (AAAAI), the American College of Allergy, Asthma and Immunology (ACAAI) and the Clinical Immunology Society (CIS). Ann Allergy Asthma Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib9","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.iac.2025.01.002","article-title":"Clinical genetics and genomics for the immunologist: a primer","volume":"45","author":"Bannister","year":"2025","journal-title":"Immunol Allergy Clin North Am"},{"key":"10.1016\/j.jaip.2026.06.034_bib10","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1007\/s11255-012-0178-0","article-title":"Wiskott-Aldrich syndrome with IgA nephropathy: a case report and literature review","volume":"45","author":"Liu","year":"2013","journal-title":"Int Urol Nephrol"},{"key":"10.1016\/j.jaip.2026.06.034_bib11","doi-asserted-by":"crossref","first-page":"2695","DOI":"10.1016\/j.jaip.2024.08.012","article-title":"Artificial intelligence and machine learning for inborn errors of immunity: current state and future promise","volume":"12","author":"Martinson","year":"2024","journal-title":"J Allergy Clin Immunol Pract"},{"key":"10.1016\/j.jaip.2026.06.034_bib12","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2022.900055","article-title":"Evaluation of the 10 warning signs in primary and secondary immunodeficient patients","volume":"13","author":"Eldeniz","year":"2022","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib13","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1016\/j.jaci.2025.06.015","article-title":"Current perspectives and challenges of using artificial intelligence in immunodeficiencies","volume":"156","author":"Rivi\u00e8re","year":"2025","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib14","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1016\/j.jaci.2015.04.049","article-title":"Practice parameter for the diagnosis and management of primary immunodeficiency","volume":"136","author":"Bonilla","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib15","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1016\/j.jaip.2023.03.049","article-title":"Inborn errors of immunity: a role for functional testing and flow cytometry in aiding clinical diagnosis","volume":"11","author":"Ma","year":"2023","journal-title":"J Allergy Clin Immunol Pract"},{"key":"10.1016\/j.jaip.2026.06.034_bib16","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1002\/jgc4.1403","article-title":"The current landscape of genetic test stewardship: a multi-center prospective study","volume":"30","author":"Kieke","year":"2021","journal-title":"J Genet Couns"},{"key":"10.1016\/j.jaip.2026.06.034_bib17","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2024.101330","article-title":"The \u201cgenetic test request\u201d: a genomic stewardship intervention for inpatient exome and genome orders at a tertiary pediatric hospital","volume":"27","author":"Saba","year":"2025","journal-title":"Genet Med"},{"key":"10.1016\/j.jaip.2026.06.034_bib18","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2025.101454","article-title":"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)","volume":"27","author":"Lee","year":"2025","journal-title":"Genet Med"},{"key":"10.1016\/j.jaip.2026.06.034_bib19","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/gim.2013.73","article-title":"ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing","volume":"15","author":"Green","year":"2013","journal-title":"Genet Med"},{"key":"10.1016\/j.jaip.2026.06.034_bib20","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/s10875-024-01855-x","article-title":"Quantifying the diagnostic odyssey burden among persons with inborn errors of immunity","volume":"45","author":"Nikzad","year":"2025","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib21","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1007\/s12016-021-08838-5","article-title":"Next-generation sequencing in the field of primary immunodeficiencies: current yield, challenges, and future perspectives","volume":"61","author":"Vorsteveld","year":"2021","journal-title":"Clin Rev Allergy Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib22","doi-asserted-by":"crossref","DOI":"10.70962\/jhi.20250007","article-title":"Inborn errors of immunity: manifestation, treatment, and outcome\u2014an ESID registry 1994\u20132024 report on 30,628 patients","volume":"1","author":"Kindle","year":"2025","journal-title":"J Hum Immun"},{"key":"10.1016\/j.jaip.2026.06.034_bib23","doi-asserted-by":"crossref","first-page":"1796","DOI":"10.1111\/pai.13571","article-title":"Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: a call for access to genetic testing","volume":"32","author":"Branch","year":"2021","journal-title":"Pediatr Allergy Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib24","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1159\/000540538","article-title":"Delineating the clinical and immunologic characteristics: a comparative study of inborn errors of immunity in adult versus pediatric diagnosed","volume":"185","author":"Karabiber","year":"2024","journal-title":"Int Arch Allergy Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib25","doi-asserted-by":"crossref","first-page":"982","DOI":"10.3389\/fimmu.2020.00982","article-title":"Shorter diagnostic delay in Polish adult patients with common variable immunodeficiency and symptom onset after 1999","volume":"11","author":"Zi\u0119tkiewicz","year":"2020","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib26","article-title":"Diagnostic disparities in inborn errors of immunity: from clinical suspicion to diagnosis","volume":"4","author":"Gilbert","year":"2025","journal-title":"J Allergy Clin Immunol Glob"},{"key":"10.1016\/j.jaip.2026.06.034_bib27","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1038\/s41431-024-01604-z","article-title":"Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey","volume":"32","author":"Faye","year":"2024","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jaip.2026.06.034_bib28","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/j.ajhg.2024.12.013","article-title":"HiFi long-read genomes for difficult-to-detect, clinically relevant variants","volume":"112","author":"H\u00f6ps","year":"2025","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaip.2026.06.034_bib29","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1186\/s13073-023-01270-8","article-title":"Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases","volume":"15","author":"AlAbdi","year":"2023","journal-title":"Genome Med"},{"key":"10.1016\/j.jaip.2026.06.034_bib30","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/j.jaci.2024.11.038","article-title":"Somatic mosaicism in genetic errors of immunity","volume":"155","author":"Cooper","year":"2025","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib31","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1002\/humu.23644","article-title":"The clinical imperative for inclusivity: race, ethnicity, and ancestry (REA) in genomics","volume":"39","author":"Popejoy","year":"2018","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jaip.2026.06.034_bib32","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1016\/j.ajhg.2021.05.011","article-title":"Exome variant discrepancies due to reference-genome differences","volume":"108","author":"Li","year":"2021","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaip.2026.06.034_bib33","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1002\/humu.24309","article-title":"Variant interpretation using population databases: lessons from gnomAD","volume":"43","author":"Gudmundsson","year":"2022","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jaip.2026.06.034_bib34","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1002\/humu.24380","article-title":"Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease","volume":"43","author":"Jacobsen","year":"2022","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jaip.2026.06.034_bib35","doi-asserted-by":"crossref","first-page":"D514","DOI":"10.1093\/nar\/gki033","article-title":"Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders","volume":"33","author":"Hamosh","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jaip.2026.06.034_bib36","doi-asserted-by":"crossref","DOI":"10.3389\/fcimb.2023.1183142","article-title":"Nature and nurture: understanding phenotypic variation in inborn errors of immunity","volume":"13","author":"Similuk","year":"2023","journal-title":"Front Cell Infect Microbiol"},{"key":"10.1016\/j.jaip.2026.06.034_bib37","doi-asserted-by":"crossref","DOI":"10.1016\/j.clim.2024.110292","article-title":"OTULIN-related conditions: report of a new case and review of the literature using GenIA","volume":"265","author":"Caballero-Oteyza","year":"2024","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib38","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1038\/s41576-025-00870-x","article-title":"Multiplexed assays of variant effect for clinical variant interpretation","volume":"27","author":"McEwen","year":"2026","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jaip.2026.06.034_bib39","doi-asserted-by":"crossref","DOI":"10.1001\/jamanetworkopen.2023.39571","article-title":"Rates and classification of variants of uncertain significance in hereditary disease genetic testing","volume":"6","author":"Chen","year":"2023","journal-title":"JAMA Netw Open"},{"key":"10.1016\/j.jaip.2026.06.034_bib40","doi-asserted-by":"crossref","first-page":"4861","DOI":"10.1016\/j.cell.2025.05.037","article-title":"Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment","volume":"188","author":"Walsh","year":"2025","journal-title":"Cell"},{"key":"10.1016\/j.jaip.2026.06.034_bib41","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1016\/j.ajhg.2020.10.015","article-title":"Multiplexed functional assessment of genetic variants in CARD11","volume":"107","author":"Meitlis","year":"2020","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaip.2026.06.034_bib42","article-title":"Deep mutational scanning reveals pharmacologically relevant insights into TYK2 signaling and disease","author":"Howard","year":"2025","journal-title":"bioRxiv"},{"key":"10.1016\/j.jaip.2026.06.034_bib43","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1186\/s13073-021-00984-x","article-title":"Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers","volume":"13","author":"Matreyek","year":"2021","journal-title":"Genome Med"},{"key":"10.1016\/j.jaip.2026.06.034_bib44","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.jaci.2024.11.022","article-title":"Expanding the diagnostic toolbox for complex genetic immune disorders","volume":"155","author":"Abrams","year":"2025","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib45","article-title":"A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency","volume":"8","author":"Fornes","year":"2023","journal-title":"Sci Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib46","doi-asserted-by":"crossref","first-page":"676","DOI":"10.3747\/pdi.2015.00261","article-title":"The 1000 Genomes Project: welcome to a new world","volume":"35","author":"Devuyst","year":"2015","journal-title":"Perit Dial Int"},{"key":"10.1016\/j.jaip.2026.06.034_bib47","doi-asserted-by":"crossref","first-page":"bbad508","DOI":"10.1093\/bib\/bbad508","article-title":"Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges","volume":"25","author":"Barbitoff","year":"2024","journal-title":"Brief Bioinform"},{"key":"10.1016\/j.jaip.2026.06.034_bib48","doi-asserted-by":"crossref","first-page":"11901","DOI":"10.1073\/pnas.1613365113","article-title":"Deep sequencing of 10,000 human genomes","volume":"113","author":"Telenti","year":"2016","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaip.2026.06.034_bib49","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.jaip.2026.06.034_bib50","doi-asserted-by":"crossref","DOI":"10.1126\/science.ads7373","article-title":"Predicting expression-altering promoter mutations with deep learning","volume":"389","author":"Jaganathan","year":"2025","journal-title":"Science"},{"key":"10.1016\/j.jaip.2026.06.034_bib51","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1038\/s41586-025-10014-0","article-title":"Advancing regulatory variant effect prediction with AlphaGenome","volume":"649","author":"Avsec","year":"2026","journal-title":"Nature"},{"key":"10.1016\/j.jaip.2026.06.034_bib52","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.ymthe.2024.11.025","article-title":"Long-read RNA sequencing: a transformative technology for exploring transcriptome complexity in human diseases","volume":"33","author":"Ament","year":"2025","journal-title":"Mol Ther"},{"key":"10.1016\/j.jaip.2026.06.034_bib53","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aal5209","article-title":"Improving genetic diagnosis in Mendelian disease with transcriptome sequencing","volume":"9","author":"Cummings","year":"2017","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.jaip.2026.06.034_bib54","article-title":"Toward transcriptomics as a primary tool for rare disease investigation","volume":"8","author":"Montgomery","year":"2022","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"10.1016\/j.jaip.2026.06.034_bib55","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/s13073-022-01019-9","article-title":"Clinical implementation of RNA sequencing for Mendelian disease diagnostics","volume":"14","author":"Y\u00e9pez","year":"2022","journal-title":"Genome Med"},{"key":"10.1016\/j.jaip.2026.06.034_bib56","doi-asserted-by":"crossref","first-page":"8320","DOI":"10.1038\/s41467-024-52474-4","article-title":"ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants","volume":"15","author":"O\u2019Neill","year":"2024","journal-title":"Nat Commun"},{"key":"10.1016\/j.jaip.2026.06.034_bib57","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1186\/s13073-022-01073-3","article-title":"Recommendations for clinical interpretation of variants found in non-coding regions of the genome","volume":"14","author":"Ellingford","year":"2022","journal-title":"Genome Med"},{"key":"10.1016\/j.jaip.2026.06.034_bib58","doi-asserted-by":"crossref","DOI":"10.1146\/annurev-genom-020625-084652","article-title":"Understanding the role of functional noncoding variation in human diseases with lessons from immunity","author":"Peng","year":"2026","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"10.1016\/j.jaip.2026.06.034_bib59","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1038\/s41586-024-08346-4","article-title":"Monoallelic expression can govern penetrance of inborn errors of immunity","volume":"637","author":"Stewart","year":"2025","journal-title":"Nature"},{"key":"10.1016\/j.jaip.2026.06.034_bib60","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1038\/nm.3746","article-title":"Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations","volume":"20","author":"Schubert","year":"2014","journal-title":"Nat Med"},{"key":"10.1016\/j.jaip.2026.06.034_bib61","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.162695","article-title":"A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice","volume":"7","author":"Schmitt","year":"2022","journal-title":"JCI Insight"},{"key":"10.1016\/j.jaip.2026.06.034_bib62","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1038\/ng756","article-title":"Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome","volume":"29","author":"Hoffman","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaip.2026.06.034_bib63","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1086\/513443","article-title":"Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome","volume":"80","author":"Rice","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaip.2026.06.034_bib64","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1038\/ng2091","article-title":"Mutations in the gene encoding the 3\u2019-5\u2019 DNA exonuclease TREX1 are associated with systemic lupus erythematosus","volume":"39","author":"Lee-Kirsch","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaip.2026.06.034_bib65","series-title":"GeneReviews(\u00ae). Seattle (WA): University of Washington, Seattle Copyright \u00a9 1993-2026, University of","article-title":"Familial Mediterranean fever","author":"Shohat","year":"1993"},{"key":"10.1016\/j.jaip.2026.06.034_bib66","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1007\/s10875-020-00749-y","article-title":"E1021K Homozygous mutation in PIK3CD leads to activated PI3K-delta syndrome 1","volume":"40","author":"Wang","year":"2020","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib67","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.jaci.2023.08.036","article-title":"PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants","volume":"153","author":"Baysac","year":"2024","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib68","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/ng.3459","article-title":"Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease","volume":"48","author":"Zhou","year":"2016","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaip.2026.06.034_bib69","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1182\/blood-2008-02-141937","article-title":"Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes","volume":"113","author":"Salzer","year":"2009","journal-title":"Blood"},{"key":"10.1016\/j.jaip.2026.06.034_bib70","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1136\/annrheumdis-2020-218810","article-title":"Arg206Cys substitution in DNASE1L3 causes a defect in DNASE1L3 protein secretion that confers risk of systemic lupus erythematosus","volume":"80","author":"Coke","year":"2021","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaip.2026.06.034_bib71","doi-asserted-by":"crossref","first-page":"9347","DOI":"10.1016\/S0021-9258(19)50430-6","article-title":"Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing","volume":"267","author":"Johnson","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaip.2026.06.034_bib72","doi-asserted-by":"crossref","DOI":"10.1126\/sciimmunol.aau8714","article-title":"Tuberculosis and impaired IL-23-dependent IFN-\u03b3 immunity in humans homozygous for a common TYK2 missense variant","volume":"3","author":"Boisson-Dupuis","year":"2018","journal-title":"Sci Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib73","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1038\/35079107","article-title":"Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn\u2019s disease","volume":"411","author":"Hugot","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.jaip.2026.06.034_bib74","doi-asserted-by":"crossref","DOI":"10.1016\/j.humimm.2023.110736","article-title":"The functional TNFAIP3 rs2230926T\/G (Phe127Cys) variant confers risk to systemic lupus erythematosus in a Latin American population","volume":"85","author":"Mont\u00fafar-Robles","year":"2024","journal-title":"Hum Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib75","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1016\/j.jaci.2026.02.002","article-title":"Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolution","volume":"157","author":"He","year":"2026","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib76","doi-asserted-by":"crossref","DOI":"10.1016\/j.semarthrit.2022.151957","article-title":"The impact of the Eurofever criteria and the new InFevers MEFV classification in real life: results from a large international FMF cohort","volume":"52","author":"Bustaffa","year":"2022","journal-title":"Semin Arthritis Rheum"},{"key":"10.1016\/j.jaip.2026.06.034_bib77","doi-asserted-by":"crossref","DOI":"10.70962\/jhi.20250016","article-title":"Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency","volume":"1","author":"Abolhassani","year":"2025","journal-title":"J Hum Immun"},{"key":"10.1016\/j.jaip.2026.06.034_bib78","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1093\/ibd\/izae075","article-title":"NOD2 and Crohn\u2019s disease clinical practice: from epidemiology to diagnosis and therapy, rewired","volume":"31","author":"Kayali","year":"2025","journal-title":"Inflamm Bowel Dis"},{"key":"10.1016\/j.jaip.2026.06.034_bib79","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1016\/j.jaci.2011.02.039","article-title":"Genome-wide association identifies diverse causes of common variable immunodeficiency","volume":"127","author":"Orange","year":"2011","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib80","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1038\/s41586-022-05473-8","article-title":"FinnGen provides genetic insights from a well-phenotyped isolated population","volume":"613","author":"Kurki","year":"2023","journal-title":"Nature"},{"key":"10.1016\/j.jaip.2026.06.034_bib81","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1056\/NEJMsr1809937","article-title":"The \u201cAll of Us\u201d Research Program","volume":"381","author":"Denny","year":"2019","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaip.2026.06.034_bib82","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/s41586-018-0579-z","article-title":"The UK Biobank resource with deep phenotyping and genomic data","volume":"562","author":"Bycroft","year":"2018","journal-title":"Nature"},{"key":"10.1016\/j.jaip.2026.06.034_bib83","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/s41577-023-00933-2","article-title":"Anti-cytokine autoantibodies: mechanistic insights and disease associations","volume":"24","author":"Cheng","year":"2024","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib84","doi-asserted-by":"crossref","DOI":"10.1126\/science.abm6380","article-title":"Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal \u03b1-toxin","volume":"376","author":"Spaan","year":"2022","journal-title":"Science"},{"key":"10.1016\/j.jaip.2026.06.034_bib85","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1111\/imr.13402","article-title":"Protective role of antibodies in enteric virus infections: lessons from primary and secondary immune deficiencies","volume":"328","author":"Riller","year":"2024","journal-title":"Immunol Rev"},{"key":"10.1016\/j.jaip.2026.06.034_bib86","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2023.100812","article-title":"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)","volume":"25","author":"Matalon","year":"2023","journal-title":"Genet Med"},{"key":"10.1016\/j.jaip.2026.06.034_bib87","doi-asserted-by":"crossref","first-page":"2460","DOI":"10.1016\/j.jaip.2025.06.015","article-title":"Reported demographics of primary immunodeficiency diseases in the United States","volume":"13","author":"Ferrante di Ruffano","year":"2025","journal-title":"J Allergy Clin Immunol Pract"},{"key":"10.1016\/j.jaip.2026.06.034_bib88","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1182\/blood.2024024499","article-title":"Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis","volume":"144","author":"Chiang","year":"2024","journal-title":"Blood"},{"key":"10.1016\/j.jaip.2026.06.034_bib89","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/978-1-61779-527-5_8","article-title":"Measurement of oxidative burst in neutrophils","volume":"844","author":"Chen","year":"2012","journal-title":"Methods Mol Biol"},{"key":"10.1016\/j.jaip.2026.06.034_bib90","doi-asserted-by":"crossref","DOI":"10.1016\/j.jim.2025.113812","article-title":"The Fas-mediated apoptosis assay: from concept to clinical application","volume":"537","author":"Bleesing","year":"2025","journal-title":"J Immunol Methods"},{"key":"10.1016\/j.jaip.2026.06.034_bib91","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1111\/pai.13535","article-title":"Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: a systematic review","volume":"32","author":"Hafezi","year":"2021","journal-title":"Pediatr Allergy Immunol"},{"key":"10.1016\/j.jaip.2026.06.034_bib92","doi-asserted-by":"crossref","first-page":"6","DOI":"10.15586\/aei.v52i5.1115","article-title":"Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series","volume":"52","author":"Jamee","year":"2024","journal-title":"Allergol Immunopathol (Madr)"},{"key":"10.1016\/j.jaip.2026.06.034_bib93","doi-asserted-by":"crossref","first-page":"632","DOI":"10.3345\/cep.2023.01760","article-title":"Double-negative T cells in pediatric rheumatic diseases","volume":"67","author":"Poddighe","year":"2024","journal-title":"Clin Exp Pediatr"},{"key":"10.1016\/j.jaip.2026.06.034_bib94","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1136\/jclinpath-2019-206255","article-title":"Causes of double-negative T-cell lymphocytosis in children and adults","volume":"73","author":"Liapis","year":"2020","journal-title":"J Clin Pathol"}],"container-title":["The Journal of Allergy and Clinical Immunology: In Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213219826005325?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213219826005325?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T20:00:34Z","timestamp":1791403234000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2213219826005325"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":94,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["S2213219826005325"],"URL":"https:\/\/doi.org\/10.1016\/j.jaip.2026.06.034","relation":{},"ISSN":["2213-2198"],"issn-type":[{"value":"2213-2198","type":"print"}],"subject":[],"published":{"date-parts":[[2026,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic Testing in Clinical Immunology: What to Know and How to Do It","name":"articletitle","label":"Article Title"},{"value":"The Journal of Allergy and Clinical Immunology: In Practice","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaip.2026.06.034","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 American Academy of Allergy, Asthma & Immunology","name":"copyright","label":"Copyright"}]}}