Research & Literature

Diagnosing haemophagocytic syndrome.

Sen ES, Steward CG, Ramanan AV

Archives of disease in childhood 2017; (102(3)):279-284 doi:10.1136/archdischild-2016-310772.

Identification of novel candidate disease genes from de novo exonic copy number variants.

Gambin T, Yuan B, Bi W, et al.

Genome medicine 2017; (9(1)):83 doi:10.1186/s13073-017-0472-7.

Hypofibrinogenemia Is Associated With Poor Outcome and Secondary Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome in Pediatric Severe Sepsis.

Signoff JK, Fitzgerald JC, Teachey DT, 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 2018; (19(5)):397-405 doi:10.1097/PCC.0000000000001507.

The molecular basis of JAK/STAT inhibition by SOCS1.

Liau NPD, Laktyushin A, Lucet IS, et al.

Nature communications 2018; (9(1)):1558 doi:10.1038/s41467-018-04013-1.

Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients.

Shamriz O, Shadur B, NaserEddin A, et al.

European journal of pediatrics 2018; (177(8)):1163-1172 doi:10.1007/s00431-018-3171-5.

Human TH9 differentiation is dependent on signal transducer and activator of transcription (STAT) 3 to restrain STAT1-mediated inhibition.

Zhang Y, Siegel AM, Sun G, et al.

The Journal of allergy and clinical immunology 2019; (143(3)):1108-1118.e4 doi:10.1016/j.jaci.2018.06.036.

Calm in the midst of cytokine storm: a collaborative approach to the diagnosis and treatment of hemophagocytic lymphohistiocytosis and macrophage activation syndrome.

Halyabar O, Chang MH, Schoettler ML, et al.

Pediatric rheumatology online journal 2019; (17(1)):7 doi:10.1186/s12969-019-0309-6.

Pediatric macrophage activation syndrome, recognizing the tip of the Iceberg.

Crayne C, Cron RQ

European journal of rheumatology 2020; (7(Suppl1)):S13-S20 doi:10.5152/eurjrheum.2019.19150.

Influenza a virus antagonizes type I and type II interferon responses via SOCS1-dependent ubiquitination and degradation of JAK1.

Du Y, Yang F, Wang Q, et al.

Virology journal 2020; (17(1)):74 doi:10.1186/s12985-020-01348-4.

International Practice Patterns of Antibiotic Therapy and Laboratory Testing in Bronchiolitis.

Zipursky A, Kuppermann N, Finkelstein Y, et al.

Pediatrics 2020; (146(2)) doi:10.1542/peds.2019-3684.

Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1.

Lee PY, Platt CD, Weeks S, et al.

The Journal of allergy and clinical immunology 2020; (146(5)):1194-1200.e1 doi:10.1016/j.jaci.2020.07.033.

Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

Hadjadj J, Castro CN, Tusseau M, et al.

Nature communications 2020; (11(1)):5341 doi:10.1038/s41467-020-18925-4.

Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation.

Kayaoglu B, Kasap N, Yilmaz NS, et al.

Journal of clinical immunology 2021; (41(4)):769-779 doi:10.1007/s10875-020-00943-y.

Pulmonary manifestations of immune dysregulation in CTLA-4 haploinsufficiency and LRBA deficiency.

Krone KA, Winant AJ, Vargas SO, et al.

Pediatric pulmonology 2021; (56(7)):2232-2241 doi:10.1002/ppul.25373.

Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.

Lamers OAC, Smits BM, Leavis HL, et al.

Frontiers in immunology 2021; (12()):606099 doi:10.3389/fimmu.2021.606099.

One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency.

Körholz J, Gabrielyan A, Sowerby JM, et al.

Frontiers in immunology 2021; (12()):680334 doi:10.3389/fimmu.2021.680334.

ORF3a Protein of Severe Acute Respiratory Syndrome Coronavirus 2 Inhibits Interferon-Activated Janus Kinase/Signal Transducer and Activator of Transcription Signaling via Elevating Suppressor of Cytokine Signaling 1.

Wang R, Yang X, Chang M, et al.

Frontiers in microbiology 2021; (12()):752597 doi:10.3389/fmicb.2021.752597.

SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition.

Michniacki TF, Walkovich K, DeMeyer L, et al.

Journal of clinical immunology 2022; (42(8)):1766-1777 doi:10.1007/s10875-022-01346-x.

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Leiding JW, Vogel TP, Santarlas VGJ, et al.

The Journal of allergy and clinical immunology 2023; (151(4)):1081-1095 doi:10.1016/j.jaci.2022.09.002.

Early Intravenous Magnesium Sulfate Administration in the Emergency Department for Severe Asthma Exacerbations.

Forster BL, Thomas F, Arnold SR, Snider MA

Pediatric emergency care 2023; (39(7)):524-529 doi:10.1097/PEC.0000000000002890.

The SOCS1 KIR and SH2 domain are both required for suppression of cytokine signaling in vivo.

Doggett K, Keating N, Dehkhoda F, et al.

Cytokine 2023; (165()):156167 doi:10.1016/j.cyto.2023.156167.

Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options.

Rodari MM, Cazals-Hatem D, Uzzan M, et al.

Journal of clinical immunology 2023; (43(6)):1403-1413 doi:10.1007/s10875-023-01495-7.

Diagnostic testing for interstitial lung disease in common variable immunodeficiency: a systematic review.

Bintalib HM, van de Ven A, Jacob J, et al.

Frontiers in immunology 2023; (14()):1190235 doi:10.3389/fimmu.2023.1190235.

In cis "benign" SOCS1 variants linked to enhanced interferon signaling and autoimmunity.

Du Y, Brodeur KE, Hsu E, et al.

Journal of autoimmunity 2023; (140()):103119 doi:10.1016/j.jaut.2023.103119.

Suppressor of Cytokine Signaling 1 Haploinsufficiency: A New Driver of Autoimmunity and Immunodysregulation.

Liu M, Hsu E, Du Y, Lee PY

Rheumatic diseases clinics of North America 2023; (49(4)):757-772 doi:10.1016/j.rdc.2023.06.003.

JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.

Fischer M, Olbrich P, Hadjadj J, et al.

The Journal of allergy and clinical immunology 2024; (153(1)):275-286.e18 doi:10.1016/j.jaci.2023.10.018.

IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency.

Gruber C, Lee A, Buta S, et al.

Journal of clinical immunology 2023; (44(1)):36 doi:10.1007/s10875-023-01635-z.

Tofacitinib use in ulcerative colitis: An expert consensus for day-to-day clinical practice.

Banerjee R, Sharma V, Patel R, et al.

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology 2024; (43(1)):22-35 doi:10.1007/s12664-023-01507-9.

Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders.

Carol HA, Mayer AS, Zhang MS, et al.

Journal of clinical immunology 2024; (45(1)):4.

[INTUSSUSCEPTION IN CHILDREN - GUIDELINES FOR DIAGNOSIS AND TREATMENT].

Shavit I, Levy N, Dreznik Y, et al.

Harefuah 2024; (163(7)):462-467.

SOCS1 deficiency-crossroads of autoimmunity and autoinflammation-two case reports.

Trojovsky K, Seidl M, Babor F, et al.

Frontiers in pediatrics 2024; (12()):1516017 doi:10.3389/fped.2024.1516017.

Serum Lipids Alterations in Patients Under Systemic JAK Inhibitors Treatments in Dermatology: Clinical Aspects and Management.

Paolino G, Valenti M, Carugno A, et al.

Medicina (Kaunas, Lithuania) 2025; (61(1)) doi:10.3390/medicina61010054.

Clinical manifestations, disease penetrance, and treatment in individuals with SOCS1 insufficiency: a registry-based and population-based study.

Hadjadj J, Wolfers A, Borisov O, et al.

The Lancet. Rheumatology 2025; (7(6)):e391-e402 doi:10.1016/S2665-9913(24)00348-5.

SOCS1 insufficiency in systemic lupus erythematosus in a child: a case report.

Cao L, Wang Q, Zhang H, Zhang J

Frontiers in pediatrics 2025; (13()):1618483 doi:10.3389/fped.2025.1618483.

Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.

Buddingh EP, Slatter M, Becerra JCA, et al.

Journal of human immunity 2025; (1(3)) doi:10.70962/jhi.20250027.

Neurological Phenotypes of SOCS1 Haploinsufficiency: Insights from Functional and Histological Investigations.

Palmeri S, Prigione I, Schena F, et al.

Journal of clinical immunology 2025; (45(1)):165.

Novel indications for hematopoietic stem cell transplantation in inborn errors of immunity.

Laberko A, Gennery AR

Expert review of clinical immunology 2026; (22(2)):183-193 doi:10.1080/1744666X.2026.2641540.

Suppressor of cytokine signaling 1 haploinsufficiency in a patient with granulomatous lymphocytic interstitial lung disease and inflammatory bowel disease-like disease.

Sonmez G, Yaz I, Ustun C, et al.

Clinical and experimental immunology 2026; (220(1)) doi:10.1093/cei/uxag023.

Multigenerational SOCS1 insufficiency: Implications for the pathogenesis of allergic and autoimmune disease.

Murray C, Harrison MJ, Leahy TR, Lee-Brennan C

Journal of human immunity 2026; (2(4)):e20250126 doi:10.70962/jhi.20250126.

Janus Kinase Inhibitors in Treatment of Primary Immune Regulatory Disorders.

Alsaati NF, Satter LF

The journal of allergy and clinical immunology. In practice 2026; (14(7)):1491-1503 doi:10.1016/j.jaip.2026.05.019.

JAK inhibitor therapy in CANDLE syndrome: a systematic review of clinical outcomes in 46 patients.

Vahabi SM, Pourgholi E, Leblebici CB, et al.

European journal of pediatrics 2026; (185(8)).