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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.

Explore the Literature Visualize citation networks across 99 referenced papers

Top Authors

Ivona A Aksentijevich
National Institutes of Health
Daniel L. Kastner
National Institutes of Health
David B. Beck
New York University
Sophie Georgin‐Lavialle
Sorbonne Université
Peter C. Grayson
National Institutes of Health
Patrycja M. Hoffmann
National Institutes of Health
Marco Gattorno
Istituto Giannina Gaslini
Qing Zhou
Zhejiang University
Amanda K. Ombrello
National Institutes of Health
Bhavisha A. Patel
National Institutes of Health

Top Institutions

Ranked by publications Top 10 institutions
10

St. Michael's Hospital

Toronto, Canada

17 papers

References

References (99)
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    Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC.

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    Ulcerative colitis complicated with colonic necrosis, septic shock and venous thromboembolism: A case report.

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    Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment.

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    World journal of pediatrics : WJP 2020; (16(6)):575-584 doi:10.1007/s12519-019-00288-6.

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    A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment.

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    Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2021; (27(8)):e583-e587 doi:10.1097/RHU.0000000000001268.

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    Pediatric hemophagocytic lymphohistiocytosis.

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    The Ubiquitin System and A20: Implications in Health and Disease.

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    Hemophagocytic Lymphohistiocytosis in a PICU of a Developing Economy: Clinical Profile, Intensive Care Needs, Outcome, and Predictors of Mortality.

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    Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.

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    Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood.

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    Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

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    COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico.

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    Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a 2-center experience.

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    Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome.

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    Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

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    A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity.

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    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.

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    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.

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    Case Report: Crossing a rugged road in a primary immune regulatory disorder.

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    Systematic genetic analysis of pediatric patients with autoinflammatory diseases.

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    Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity.

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    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.

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    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.

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    The Inborn Errors of Immunity-Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase.

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    Vacuoles in bone marrow progenitors: VEXAS syndrome and beyond.

    Lacombe V, Hadjadj J, Georgin-Lavialle S, et al.

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    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.

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    VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge.

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    Immunoglobulin replacement therapies in inborn errors of immunity: a review.

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    Hemophagocytic Lymphohistiocytosis (HLH) in Patients with Tick-Borne Illness: A Scoping Review of 98 Cases.

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    Current genetic diagnostics in inborn errors of immunity.

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    VEXAS syndrome.

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    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.

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    Autoinflammatory Diseases: A Review.

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    The multidisciplinary approach to diagnosing inborn errors of immunity: a comprehensive review of discipline-based manifestations.

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    Expert review of clinical immunology 2024; (20(10)):1237-1259 doi:10.1080/1744666X.2024.2372335.

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    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.

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    Characterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF Inhibitor.

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    Arthritis & rheumatology (Hoboken, N.J.) 2024; (76(11)):1670-1678 doi:10.1002/art.42948.

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    Clinical presentation, diagnosis, and treatment of chronic granulomatous disease.

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    Frontiers in pediatrics 2024; (12()):1384550 doi:10.3389/fped.2024.1384550.

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    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.

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    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.

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    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
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    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
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    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
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    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
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    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
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    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
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    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
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    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
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    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
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    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
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    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
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    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
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    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
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    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
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    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.

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    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.

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    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
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    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
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    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.

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