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

The Lancet Rheumatology, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 1, 2025

Suppressor of cytokine signalling 1 (SOCS1) insufficiency is an inborn error immunity affecting the negative regulation and growth factor signalling. We aimed to enhance understanding clinical manifestations, disease trajectories, penetrance, effect Janus kinase (JAK) inhibition in individuals with SOCS1 insufficiency. This study used data from two independent cohorts: European Society for Immunodeficiencies (ESID) registry UK Biobank. Participants ESID were nine countries (Austria, Belgium, France, Germany, Ireland, Italy, Portugal, Sweden, Ukraine), China, Taiwan, USA. eligible if they had heterozygous, functionally validated variants; participants Biobank included any variant detected cohort or other that was classed as high-impact. Clinical manifestations underlying documented summarised into subgroups, ICD-10 diagnosis codes collected tested relevant autoantibodies their local laboratory. Responses JAK inhibitor treatment assessed by treating physician using a visual analogue scale. Descriptive statistics analysis. People lived experience not involved design. 119 insufficiency: 67 registry, enrolled between Feb 15, 2021, Dec 31, 2023, 52 Of 39 (58%) female, 28 (42%) male, median age years (IQR 15-44, range 2-85). 27 different monoallelic variants identified these participants. 62 (93%) symptomatic five (7%) asymptomatic family members; symptoms, allergy (33 [50%]), inflammatory gastrointestinal (22 [36%]) skin (18 [29%]) autoimmune cytopenia (24 [39%]), lymphoproliferation (23 [37%]) most frequent. Rheumatological systemic lupus erythematosus, Sjögren's disease, rheumatoid arthritis, typical autoantibody profiles. 42 (68%) at least three manifestations. In we found carrying high-impact 29 (56%) 23 (44%) 72 (65-78, 57-86). Only 30 developed potentially related Allergy rheumatological more common than registry. Female predominance (21 [70%] female [30%] male) also among Treatment inhibitors showed promising results 12 (92%) 13 differs genetic lymphoproliferative disorders presence frequent atopic Penetrance incomplete higher females males. targeted therapy patients German Research Foundation (DFG).

Language: Английский

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The Role of Inflammation in the Pathogenesis of Comorbidity of Chronic Obstructive Pulmonary Disease and Pulmonary Tuberculosis

International Journal of Molecular Sciences, Journal Year: 2025, Volume and Issue: 26(6), P. 2378 - 2378

Published: March 7, 2025

The comorbid course of chronic obstructive pulmonary disease (COPD) and tuberculosis is an important medical social problem. Both diseases, although having different etiologies, have many overlapping relationships that mutually influence their prognosis. aim the current review to discuss role immune mechanisms underlying inflammation in COPD tuberculosis. These are known involve both innate adaptive system, including various cellular intercellular interactions. There growing evidence involved pathogenesis may jointly contribute tuberculosis-associated (TOPD) phenotype. Several studies reported prior as a risk factor for COPD. Therefore, study link considerable clinical interest.

Language: Английский

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Baicalin mitigates alcoholic-associated liver disease via SOCS1-driven reprogramming of macrophages

Chinese Medicine, Journal Year: 2025, Volume and Issue: 20(1)

Published: May 13, 2025

Language: Английский

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The mosaic of systemic lupus erythematosus: From autoimmunity to autoinflammation and immunodeficiency and back

Autoimmunity Reviews, Journal Year: 2024, Volume and Issue: unknown, P. 103675 - 103675

Published: Oct. 1, 2024

Language: Английский

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