Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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National Institutes of Health
Bethesda, United States
New York University
New York, United States
Children's Hospital of Philadelphia
Philadelphia, United States
Sorbonne Université
Paris, France
Centre National de la Recherche Scientifique
Paris, France
University College London
London, United Kingdom
Mayo Clinic
Rochester, United States
University of Rome Tor Vergata
Rome, Italy
University of Pittsburgh
Pittsburgh, United States
St. Michael's Hospital
Toronto, Canada
References
References (99)
- 1
Perception of self: distinguishing autoimmunity from autoinflammation.
van Kempen TS, Wenink MH, Leijten EF, et al.
Nature reviews. Rheumatology 2015; (11(8)):483-92 doi:10.1038/nrrheum.2015.60.
PMID: 25963881 - 2
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.
Boisson B, Laplantine E, Dobbs K, et al.
The Journal of experimental medicine 2015; (212(6)):939-51 doi:10.1084/jem.20141130.
PMID: 26008899 - 3
The multifaceted role of the E3 ubiquitin ligase HOIL-1: beyond linear ubiquitination.
Elton L, Carpentier I, Verhelst K, et al.
Immunological reviews 2015; (266(1)):208-21 doi:10.1111/imr.12307.
PMID: 26085217 - 4
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.
Zhou Q, Wang H, Schwartz DM, et al.
Nature genetics 2016; (48(1)):67-73 doi:10.1038/ng.3459.
PMID: 26642243 - 5
Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.
Zilberman-Rudenko J, Shawver LM, Wessel AW, et al.
Proceedings of the National Academy of Sciences of the United States of America 2016; (113(6)):1612-7 doi:10.1073/pnas.1518163113.
PMID: 26802121 - 6
The Third International Consensus Definitions for Sepsis and Septic Shock (Sepsis-3).
Singer M, Deutschman CS, Seymour CW, et al.
JAMA 2016; (315(8)):801-10 doi:10.1001/jama.2016.0287.
PMID: 26903338 - 7
Similar but not the same: Differential diagnosis of HLH and sepsis.
Machowicz R, Janka G, Wiktor-Jedrzejczak W
Critical reviews in oncology/hematology 2017; (114()):1-12 doi:10.1016/j.critrevonc.2017.03.023.
PMID: 28477737 - 8
Type I interferon-mediated autoinflammation and autoimmunity.
Kretschmer S, Lee-Kirsch MA
Current opinion in immunology 2017; (49()):96-102 doi:10.1016/j.coi.2017.09.003.
PMID: 29128691 - 9
A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease.
Aeschlimann FA, Batu ED, Canna SW, et al.
Annals of the rheumatic diseases 2018; (77(5)):728-735 doi:10.1136/annrheumdis-2017-212403.
PMID: 29317407 - 10
Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.
Kostik MM, Suspitsin EN, Guseva MN, et al.
Rheumatology international 2018; (38(5)):887-893 doi:10.1007/s00296-018-4002-8.
PMID: 29500522 - 11
An Update on Autoinflammatory Diseases: Relopathies.
Steiner A, Harapas CR, Masters SL, Davidson S
Current rheumatology reports 2018; (20(7)):39 doi:10.1007/s11926-018-0749-x.
PMID: 29846841 - 12
Macrophage activation syndrome: early diagnosis is key.
Lerkvaleekul B, Vilaiyuk S
Open access rheumatology : research and reviews 2018; (10()):117-128 doi:10.2147/OARRR.S151013.
PMID: 30214327 - 13
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa.
Neves JF, Doffinger R, Barcena-Morales G, et al.
Frontiers in immunology 2018; (9()):2863 doi:10.3389/fimmu.2018.02863.
PMID: 30619256 - 14
Autoinflammatory diseases: State of the art.
Georgin-Lavialle S, Fayand A, Rodrigues F, et al.
Presse medicale (Paris, France : 1983) 2019; (48(1 Pt 2)):e25-e48 doi:10.1016/j.lpm.2018.12.003.
PMID: 30686513 - 15
Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC.
Oda H, Beck DB, Kuehn HS, et al.
Frontiers in immunology 2019; (10()):479 doi:10.3389/fimmu.2019.00479.
PMID: 30936877 - 16
Ulcerative colitis complicated with colonic necrosis, septic shock and venous thromboembolism: A case report.
Zhu MY, Sun LQ
World journal of clinical cases 2019; (7(16)):2360-2366 doi:10.12998/wjcc.v7.i16.2360.
PMID: 31531332 - 17
Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment.
Yu MP, Xu XS, Zhou Q, et al.
World journal of pediatrics : WJP 2020; (16(6)):575-584 doi:10.1007/s12519-019-00288-6.
PMID: 31587140 - 18
A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment.
Hautala T, Vähäsalo P, Kuismin O, et al.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2021; (27(8)):e583-e587 doi:10.1097/RHU.0000000000001268.
PMID: 31977656 - 19
Pediatric hemophagocytic lymphohistiocytosis.
Canna SW, Marsh RA
Blood 2020; (135(16)):1332-1343 doi:10.1182/blood.2019000936.
PMID: 32107531 - 20
Linear Ubiquitin Code: Its Writer, Erasers, Decoders, Inhibitors, and Implications in Disorders.
Oikawa D, Sato Y, Ito H, Tokunaga F
International journal of molecular sciences 2020; (21(9)) doi:10.3390/ijms21093381.
PMID: 32403254 - 21
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.
Martín-Nalda A, Fortuny C, Rey L, et al.
Journal of clinical immunology 2020; (40(7)):987-1000 doi:10.1007/s10875-020-00794-7.
PMID: 32671674 - 22
The Ubiquitin System and A20: Implications in Health and Disease.
Mooney EC, Sahingur SE
Journal of dental research 2021; (100(1)):10-20 doi:10.1177/0022034520949486.
PMID: 32853526 - 23
Hemophagocytic Lymphohistiocytosis in a PICU of a Developing Economy: Clinical Profile, Intensive Care Needs, Outcome, and Predictors of Mortality.
Parajuli B, Angurana SK, Awasthi P, et al.
Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 2021; (22(1)):e44-e57 doi:10.1097/PCC.0000000000002539.
PMID: 33031348 - 24
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Beck DB, Ferrada MA, Sikora KA, et al.
The New England journal of medicine 2020; (383(27)):2628-2638 doi:10.1056/NEJMoa2026834.
PMID: 33108101 - 25
Septic shock: Clinical indicators and implications to critical patient care.
Ramos Corrêa Pinto L, Azzolin KO, Lucena AF, et al.
Journal of clinical nursing 2021; (30(11-12)):1607-1614 doi:10.1111/jocn.15713.
PMID: 33590928 - 26
Autoinflammatory syndromes.
Meier-Schiesser B, French LE
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2021; (19(3)):400-426 doi:10.1111/ddg.14332.
PMID: 33620111 - 27
Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives.
Vorsteveld EE, Hoischen A, van der Made CI
Clinical reviews in allergy & immunology 2021; (61(2)):212-225 doi:10.1007/s12016-021-08838-5.
PMID: 33666867 - 28
Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood.
Welzel T, Benseler SM, Kuemmerle-Deschner JB
Frontiers in immunology 2021; (12()):516427 doi:10.3389/fimmu.2021.516427.
PMID: 33868220 - 29
The challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disorders.
Oliveira Mendonça L, Matucci-Cerinic C, Terranova P, et al.
Rheumatology (Oxford, England) 2022; (61(2)):696-704 doi:10.1093/rheumatology/keab361.
PMID: 33909886 - 30
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Aksentijevich I, Schnappauf O
Nature reviews. Rheumatology 2021; (17(7)):405-425 doi:10.1038/s41584-021-00614-1.
PMID: 34035534 - 31
COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico.
Castano-Jaramillo LM, Yamazaki-Nakashimada MA, O'Farrill-Romanillos PM, et al.
Journal of clinical immunology 2021; (41(7)):1463-1478 doi:10.1007/s10875-021-01077-5.
PMID: 34114122 - 32
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
Magg T, Okano T, Koenig LM, et al.
Science immunology 2021; (6(60)) doi:10.1126/sciimmunol.abf9564.
PMID: 34145065 - 33
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.
Obiorah IE, Patel BA, Groarke EM, et al.
Blood advances 2021; (5(16)):3203-3215 doi:10.1182/bloodadvances.2021004976.
PMID: 34427584 - 34
Clinical Heterogeneity of the VEXAS Syndrome: A Case Series.
Koster MJ, Kourelis T, Reichard KK, et al.
Mayo Clinic proceedings 2021; (96(10)):2653-2659 doi:10.1016/j.mayocp.2021.06.006.
PMID: 34489099 - 35
LUBAC: a new player in polyglucosan body disease.
Aboujaoude A, Minassian B, Mitra S
Biochemical Society transactions 2021; (49(5)):2443-2454 doi:10.1042/BST20210838.
PMID: 34709403 - 36
Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a 2-center experience.
Diarra A, Duployez N, Fournier E, et al.
Blood advances 2022; (6(3)):998-1003 doi:10.1182/bloodadvances.2021004749.
PMID: 34714914 - 37
Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome.
Patel N, Dulau-Florea A, Calvo KR
Seminars in hematology 2021; (58(4)):204-211 doi:10.1053/j.seminhematol.2021.10.007.
PMID: 34802541 - 38
Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.
Omoyinmi E, Rowczenio D, Sebire N, et al.
Pediatric rheumatology online journal 2021; (19(1)):161 doi:10.1186/s12969-021-00645-8.
PMID: 34809655 - 39
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
Kanazawa N, Hemmi H, Kinjo N, et al.
Nature communications 2021; (12(1)):6819 doi:10.1038/s41467-021-27085-y.
PMID: 34819510 - 40
A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity.
Perazzio SF, Palmeira P, Moraes-Vasconcelos D, et al.
Frontiers in immunology 2021; (12()):721289 doi:10.3389/fimmu.2021.721289.
PMID: 34858394 - 41
Identification of a Novel Mutation in TNFAIP3 in a Family With Poly-Autoimmunity.
Rossi MN, Federici S, Uva A, et al.
Frontiers in immunology 2022; (13()):804401 doi:10.3389/fimmu.2022.804401.
PMID: 35154120 - 42
The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist.
Romano M, Arici ZS, Piskin D, et al.
Arthritis & rheumatology (Hoboken, N.J.) 2022; (74(7)):1102-1121 doi:10.1002/art.42139.
PMID: 35621220 - 43
Peripheral-blood cytopenia, an early indicator of inborn errors of immunity.
Cornelissen HM, Musekwa EM, Glashoff RH, et al.
British journal of haematology 2022; (198(5)):875-886 doi:10.1111/bjh.18337.
PMID: 35791731 - 44
A clinician's guide for administration of high-concentration and facilitated subcutaneous immunoglobulin replacement therapy in patients with primary immunodeficiency diseases.
Epland K, Suez D, Paris K
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022; (18(1)):87 doi:10.1186/s13223-022-00726-7.
PMID: 36180928 - 45
Case Report: Crossing a rugged road in a primary immune regulatory disorder.
Sgrulletti M, Cifaldi C, Di Cesare S, et al.
Frontiers in pediatrics 2022; (10()):1055091 doi:10.3389/fped.2022.1055091.
PMID: 36699297 - 46
Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
Poker Y, von Hardenberg S, Hofmann W, et al.
Frontiers in genetics 2023; (14()):1065907 doi:10.3389/fgene.2023.1065907.
PMID: 36777733 - 47
Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity.
Yanes T, Sullivan A, Barbaro P, et al.
European journal of human genetics : EJHG 2023; (31(10)):1125-1132 doi:10.1038/s41431-023-01321-z.
PMID: 36864115 - 48
Guardians of Immunity: Advances in Primary Immunodeficiency Disorders and Management.
Peddi NC, Vuppalapati S, Sreenivasulu H, et al.
Cureus 2023; (15(9)):e44865 doi:10.7759/cureus.44865.
PMID: 37809154 - 49
A20 Haploinsufficiency: A Systematic Review of 177 Cases.
Elhani I, Riller Q, Boursier G, et al.
The Journal of investigative dermatology 2024; (144(6)):1282-1294.e8 doi:10.1016/j.jid.2023.12.007.
PMID: 38128752 - 50
The Inborn Errors of Immunity-Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase.
Coppola E, Sgrulletti M, Cortesi M, et al.
Journal of clinical immunology 2024; (44(2)):47 doi:10.1007/s10875-023-01644-y.
PMID: 38231401 - 51
Vacuoles in bone marrow progenitors: VEXAS syndrome and beyond.
Lacombe V, Hadjadj J, Georgin-Lavialle S, et al.
The Lancet. Haematology 2024; (11(2)):e160-e167 doi:10.1016/S2352-3026(23)00375-7.
PMID: 38302223 - 52
The autoimmune rheumatological presentation of Common Variable Immunodeficiency Disorders with an overview of genetic testing.
Ameratunga R, Woon ST, Leung E, et al.
Seminars in arthritis and rheumatism 2024; (65()):152387 doi:10.1016/j.semarthrit.2024.152387.
PMID: 38330740 - 53
VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge.
Kreutzinger V, Pankow A, Boyadzhieva Z, et al.
Journal of clinical medicine 2024; (13(4)) doi:10.3390/jcm13041049.
PMID: 38398362 - 54
Immunoglobulin replacement therapies in inborn errors of immunity: a review.
Sil A, Basu S, Joshi V, et al.
Frontiers in pediatrics 2024; (12()):1368755 doi:10.3389/fped.2024.1368755.
PMID: 38425666 - 55
Hemophagocytic Lymphohistiocytosis (HLH) in Patients with Tick-Borne Illness: A Scoping Review of 98 Cases.
Jevtic D, da Silva MD, Haylock AB, et al.
Infectious disease reports 2024; (16(2)):154-169 doi:10.3390/idr16020012.
PMID: 38525759 - 56
Current genetic diagnostics in inborn errors of immunity.
von Hardenberg S, Klefenz I, Steinemann D, et al.
Frontiers in pediatrics 2024; (12()):1279112 doi:10.3389/fped.2024.1279112.
PMID: 38659694 - 57
VEXAS syndrome.
Nakajima H, Kunimoto H
International journal of hematology 2025; (122(3)):341-350 doi:10.1007/s12185-024-03799-9.
PMID: 38819628 - 58
Innovations in the care of childhood interstitial lung disease associated with connective tissue disease and immune-mediated disorders.
Samad A, Wobma H, Casey A
Pediatric pulmonology 2024; (59(9)):2321-2337 doi:10.1002/ppul.27068.
PMID: 38837875 - 59
Autoinflammatory Diseases: A Review.
An J, Marwaha A, Laxer RM
The Journal of rheumatology 2024; (51(9)):848-861 doi:10.3899/jrheum.2023-1209.
PMID: 38879186 - 60
The multidisciplinary approach to diagnosing inborn errors of immunity: a comprehensive review of discipline-based manifestations.
Yazdanpanah N, Rezaei N
Expert review of clinical immunology 2024; (20(10)):1237-1259 doi:10.1080/1744666X.2024.2372335.
PMID: 38907993 - 61
Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens.
Fasshauer M, Dinges S, Staudacher O, et al.
Frontiers in pediatrics 2024; (12()):1386959 doi:10.3389/fped.2024.1386959.
PMID: 38933494 - 62
Characterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF Inhibitor.
Yang Z, Tao P, Han X, et al.
Arthritis & rheumatology (Hoboken, N.J.) 2024; (76(11)):1670-1678 doi:10.1002/art.42948.
PMID: 38965708 - 63
Clinical presentation, diagnosis, and treatment of chronic granulomatous disease.
Staudacher O, von Bernuth H
Frontiers in pediatrics 2024; (12()):1384550 doi:10.3389/fped.2024.1384550.
PMID: 39005504 - 64
Health-related quality of life in patients with inborn errors of immunity: A systematic review and meta-analysis.
Xiao N, Huang X, Yang D, et al.
Preventive medicine 2024; (186()):108079 doi:10.1016/j.ypmed.2024.108079.
PMID: 39053518 - 65
Epstein-Barr virus-driven lymphoproliferation in inborn errors of immunity: a diagnostic and therapeutic challenge.
Barman P, Basu S, Goyal T, et al.
Expert review of clinical immunology 2024; (20(11)):1331-1346 doi:10.1080/1744666X.2024.2386427.
PMID: 39066572 - 66
Diagnostic tests for primary immunodeficiency disorders: Classic and genetic testing.
Klangkalya N, Fleisher TA, Rosenzweig SD
Allergy and asthma proceedings 2024; (45(5)):355-363 doi:10.2500/aap.2024.45.240051.
PMID: 39294902 - 67
Immunodeficiency: Overview of primary immune regulatory disorders (PIRDs).
Nelson CS, Baloh CH
Allergy and asthma proceedings 2024; (45(5)):332-339 doi:10.2500/aap.2024.45.240070.
PMID: 39294916 - 68
A Case Report of Hemophagocytic Lymphohistiocytosis Masquerading as Sepsis.
Ayyar S, Lantz R
Cureus 2024; (16(8)):e67393 doi:10.7759/cureus.67393.
PMID: 39310631 - 69
Allogenic haematopoietic stem cell transplantation in VEXAS: A review of 33 patients.
Ali SB, Gurnari C
Clinical rheumatology 2024; (43(11)):3565-3575 doi:10.1007/s10067-024-07160-7.
PMID: 39347920 - 70
Disparities in Diagnosis, Access to Specialist Care and Treatment for Inborn Errors of Immunity.
Lawrence MG, Rider NL, Cunningham-Rundles C, Poli MC
The journal of allergy and clinical immunology. In practice 2023; doi:10.1016/j.jaip.2023.10.041.
PMID: 39492552 - 71
Evolving Approach to Clinical Cytometry for Immunodeficiencies and Other Immune Disorders.
Sadighi Akha AA, Csomós K, Ujházi B, et al.
Immunology and allergy clinics of North America 2025; (45(2)):205-221 doi:10.1016/j.iac.2025.01.009.
PMID: 40287169 - 72
Emerging treatment approaches for VEXAS syndrome: a systematic review and meta-analysis.
Kilic B, Sacin E, Tanin MK, et al.
Annals of hematology 2025; (104(5)):2617-2630 doi:10.1007/s00277-025-06382-2.
PMID: 40287866 - 73
Efficacy and safety of azacitidine for VEXAS syndrome: a large-scale retrospective study from FRENVEX.
Jachiet V, Kosmider O, Beydon M, et al.
Blood 2025; (146(12)):1450-1461 doi:10.1182/blood.2024028133.
PMID: 40373272 - 74
Rapid clinical deployment of UBA1 testing in patients with VEXAS syndrome.
Wadsworth PA, Chen SB, Lawrence L, et al.
American journal of clinical pathology 2025; (164(3)):360-366 doi:10.1093/ajcp/aqaf051.
PMID: 40418703 - 75
Bone Marrow Vacuolization at the Crossroads of Specialties: Molecular Insights and Diagnostic Challenges.
Elbadry MI, Mabed M
European journal of haematology 2025; (115(3)):204-217 doi:10.1111/ejh.14441.
PMID: 40438982 - 76
Clinical characteristics and treatment strategies for A20 haploinsufficiency in Japan: a national epidemiological survey.
Shiraki M, Kadowaki S, Miwa Y, et al.
Frontiers in immunology 2025; (16()):1548042 doi:10.3389/fimmu.2025.1548042.
PMID: 40574834 - 77
American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel.
Mekinian A, Georgin-Lavialle S, Ferrada MA, et al.
Arthritis & rheumatology (Hoboken, N.J.) 2026; (78(3)):509-522 doi:10.1002/art.43287.
PMID: 40787890 - 78
Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.
Tobin JM, Cooper MA
Journal of human immunity 2025; (1(3)) doi:10.70962/jhi.20250034.
PMID: 40842819 - 79
Immunodeficiencies in Adults: Key Considerations for Diagnosis and Management.
Regina J, Doms J, Kampouri E, et al.
Clinical reviews in allergy & immunology 2025; (68(1)):92 doi:10.1007/s12016-025-09103-9.
PMID: 41107625 - 80
Defects in Innate and Intrinsic Immunity in Morocco: A Retrospective Analysis of the Genetic Landscape and Clinical Correlations.
Refaat M, Oujane C, Errami A, et al.
Pathogens & immunity 2025; (10(2)):243-255 doi:10.20411/pai.v10i2.845.
PMID: 41209815 - 81
Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.
Lee JK, Jang JH, Kim DR, et al.
Journal of clinical immunology 2025; (45(1)):170.
PMID: 41275043 - 82
VEXAS syndrome: a comprehensive review of pathogenesis, clinical spectrum, and therapeutic strategies.
Groarke EM, Turturice B, Patel BA, et al.
Lancet (London, England) 2026; (407(10528)):637-648 doi:10.1016/S0140-6736(25)02164-6.
PMID: 41520673 - 83
Building alliances for early detection of immunodeficiencies: from primary care to hematology.
Rivière JG, Pasquet M, Gambineri E
Frontiers in immunology 2025; (16()):1701384 doi:10.3389/fimmu.2025.1701384.
PMID: 41550923 - 84
Targeting cytokine pathways: the role of biologics in autoinflammatory disorders.
Koga T
Expert review of clinical immunology 2026; (22(1)):107-121 doi:10.1080/1744666X.2026.2625277.
PMID: 41620931 - 85
Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution.
He T, Wang J, Carpio Tumba M, et al.
The Journal of allergy and clinical immunology 2026; (157(6)):1395-1410 doi:10.1016/j.jaci.2026.02.002.
PMID: 41692116 - 86
Clinical description, genetic analysis and characterization of two NLRP12 heterozygous VUS variants.
Lizama-Muñoz A, Gutiérrez-Bautista JF, García-Aznar JM, et al.
Frontiers in immunology 2026; (17()):1755711 doi:10.3389/fimmu.2026.1755711.
PMID: 42099593 - 87
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.
Wijngaard R, van der Made CI, Kalkan Uçar S, et al.
American journal of human genetics 2026; (113(6)):1214-1232 doi:10.1016/j.ajhg.2026.04.015.
PMID: 42167218 - 88
How I Treat: Haploinsufficiency of A20.
Li J, Zhou JY, Carpio Tumba M, et al.
Journal of human immunity 2026; (2(4)):e20250138 doi:10.70962/jhi.20250138.
PMID: 42169681 - 89
Inborn errors of immunity: a structured model for paediatric-to-adult transition of care.
Civino A, Diomeda F, D'Orio C, et al.
Frontiers in immunology 2026; (17()):1813944 doi:10.3389/fimmu.2026.1813944.
PMID: 42199435 - 90
Allogeneic hematopoietic stem cell transplantation for VEXAS syndrome: A review and a case report.
Nagae K, Muranushi H, Nannya Y, Maeda T
Clinical hematology international 2026; (8(2)):40-49 doi:10.46989/001c.161719.
PMID: 42221689 - 91
The Silent Infection: Cytokine Blockade, Blunted Sepsis Physiology, and Soft Tissue Infection With NLRP12-Associated Autoinflammatory Syndrome.
Izadian Bidgoli A, Gomez Veliz A
Cureus 2026; (18(5)):e109484 doi:10.7759/cureus.109484.
PMID: 42338869 - 92
Secondary hemophagocytic lymphohistiocytosis in pediatric patients: a single-center experience.
Abu Shanap M, Bzour A, Sultan I, Rihani R
Frontiers in pediatrics 2026; (14()):1834746 doi:10.3389/fped.2026.1834746.
PMID: 42368290 - 93
Shared Decision-Making and Health-Related Quality of Life in the Diagnosis and Management of Patients With Inborn Errors of Immunity.
Lawrence MG, Kim VHD, Orange JS, Scherzer R
The journal of allergy and clinical immunology. In practice 2026; doi:10.1016/j.jaip.2026.07.010.
PMID: 42447994 - 94
Hemophagocytic Lymphohistiocytosis-Macrophage Activation Syndrome (HLH-MAS) Mimicking Neuropsychiatric Lupus in Systemic Lupus Erythematosus (SLE).
Idrees S, Patel V, Nageh D, et al.
Cureus 2026; (18(7)):e112940 doi:10.7759/cureus.112940.
PMID: 42614696 - 95
Hemophagocytic lymphohistiocytosis in critically ill patients: A guide for clinicians.
Nedel W
World journal of critical care medicine 2026; (15(3)):120840 doi:10.5492/wjccm.120840.
PMID: 42707831 - 96
Frequency of depression and anxiety in patients with inborn errors of immunity: a cross-sectional study.
Wolff LJ, Witte T, Kahl KG, et al.
BMC psychiatry 2026; (26(1)).
PMID: 42745244 - 97
Immune dysregulatory disorders: perspective from solving a diagnostic odyssey.
Crowther L, Broderick L
Current opinion in pediatrics 2026; (38(6)):659-665 doi:10.1097/MOP.0000000000001616.
PMID: 42750655 - 98
Evaluating the Efficacy of Cytokine-Directed Therapies in the Management of VEXAS Syndrome.
Montes D, Langenfeld HE, Hanson AC, et al.
ACR open rheumatology 2026; (8(10)):e90153.
PMID: 42782167 - 99
Work participation in inborn errors of immunity: The dual burden on patients and caregivers.
Pulvirenti F, Sgrulletti M, Radovic K, et al.
Journal of human immunity 2026; (2(6)) doi:10.70962/jhi.20260077.
PMID: 42911122