Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond

Trends in Immunology, Год журнала: 2024, Номер 45(2), С. 138 - 153

Опубликована: Янв. 21, 2024

Язык: Английский

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TH2-driven manifestations of inborn errors of immunity

Journal of Allergy and Clinical Immunology, Год журнала: 2024, Номер 154(2), С. 245 - 254

Опубликована: Май 17, 2024

Язык: Английский

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Inborn errors of immunity with atopic phenotypes in the allergy and immunology clinic: a practical review

Current Opinion in Allergy and Clinical Immunology, Год журнала: 2025, Номер unknown

Опубликована: Фев. 12, 2025

Purpose of review Inborn errors immunity with atopic phenotypes (IEIwA) are a subgroup IEI that may present severe and/or multiple clinical manifestations. Because their specific management and prognosis, it is important to distinguish IEIwA from multifactorial allergic diseases. We aimed the main manifestations associated summarize available data regarding precision medicine approach for these conditions. Recent findings include more than 50 monogenic disorders marked by different immune dysregulation mechanisms such as alterations in cytokine signaling, T cell receptor function, mast activation, skin barrier integrity. A critical role diagnosis played advanced genetic testing. Emerging treatments targeted monoclonal antibodies small molecules, whereas hematopoietic stem transplantation (HSCT) still valid option some be curative also on Summary The recognition accurate crucial timely appropriate therapeutic intervention. should suspected according presence ‘red flags’ at evaluation stage, early-onset atopy, recurrent/atypical infections, autoimmunity. diagnostic confirmation requires Precision approaches like biological therapies HSCT seem provide promising results. It worth noting translational research field currently paving way thorough understanding molecular bases common

Язык: Английский

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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis

The Journal of Experimental Medicine, Год журнала: 2024, Номер 221(6)

Опубликована: Апрель 2, 2024

Inborn errors of immunity lead to autoimmunity, inflammation, allergy, infection, and/or malignancy. Disease-causing JAK1 gain-of-function (GoF) mutations are considered exceedingly rare and have been identified in only four families. Here, we use forward reverse genetics identify 59 individuals harboring one heterozygous variants. In vitro ex vivo analysis these variants revealed hyperactive baseline cytokine-induced STAT phosphorylation interferon-stimulated gene (ISG) levels compared with wild-type JAK1. A systematic review electronic health records from the BioME Biobank increased likelihood clinical presentation atopy, colitis, dermatitis variant-positive individuals. Finally, treatment affected patient severe atopic using JAK1/JAK2-selective inhibitor, baricitinib, resulted clinically significant improvement. These findings suggest that individually GoF may underlie an emerging syndrome more common presentations autoimmune inflammatory disease (JAACD syndrome). More broadly, who present such conditions benefit genetic testing for presence

Язык: Английский

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Treatment of Atopic Dermatitis with Upadacitinib in a Patient During Hepatitis C Activity Period

Journal of Asthma and Allergy, Год журнала: 2025, Номер Volume 18, С. 753 - 756

Опубликована: Май 1, 2025

This case report aims to explore the efficacy and safety of upadacitinib in patients with severe atopic dermatitis during hepatitis C activity period, providing reference for treatment clinical period. We reviewed history a patient our hospital analysed applying conjunction review relevant literature. During 1-year follow-up, patient's peripheral rash gradually improved, viral RNA load was normalised at 6-month reaching criteria cure. The took only oral triamcinolone half year after cure, no recurrence or liver function abnormality found. Upadacitinib can be considered as option but more cases drug research are needed assess its

Язык: Английский

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Real-World Evidence for Baricitinib in the Treatment of Atopic Dermatitis and Alopecia Areata: Systematic Literature Review 2020–2023

Dermatology and Therapy, Год журнала: 2025, Номер unknown

Опубликована: Май 16, 2025

Baricitinib is an oral selective Janus kinase 1/2 inhibitor approved for the treatment of immune-mediated inflammatory skin diseases atopic dermatitis (AD) and alopecia areata (AA). We report findings a systematic literature review real-world outcomes with baricitinib in patients AD or AA. Databases, conference proceedings, other sources were searched publications covering July to November 2023 that provided evidence baricitinib-treated patients; extracted study variables included population characteristics, interventions, outcomes. In total, 76 meeting inclusion criteria identified, most which single-centre studies; 1134 unique 598 AA included. Studies mostly focused on effectiveness outcomes, followed by patterns, patient-reported safety. Most safety then patterns. Overall, consistently improved signs symptoms receiving settings, was effective both adult paediatric associated improvements The common reasons discontinuation ineffectiveness adverse events, although rates due events low. Patients initiating had often been treated previously biologic frequently immunosuppressive topical treatments before initiation. Treatment prior data limited studies AA, but several reported concomitant minoxidil use baricitinib. No new signals observed no serious reported. conclusion, support tolerability clinical trials.

Язык: Английский

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Inborn Errors of Immunity in Apoptosis

Frontiers in Bioscience-Landmark, Год журнала: 2025, Номер 30(5)

Опубликована: Май 20, 2025

Inborn errors of immunity (IEIs) are a group more than 485 disorders that impair immune development and function with variable reported incidence, severity, clinical phenotypes. A subset IEIs blend increased susceptibility to infection, autoimmunity, malignancy known collectively as primary regulatory (PIRDs). Programmed cell death, or apoptosis, is crucial for maintaining the balance lymphocytes. Genetic-level identification several human inherited diseases impaired apoptosis has been achieved, such autoimmune lymphoproliferative syndrome (ALPS), caspase-8 deficiency state (CEDS), X-linked (XLP), Janus kinase (JAK)/signal transducer activator transcription (STAT) pathway disorders. The consequences this disease manifested by abnormal lymphocyte accumulation, resulting in features lymphadenopathy, hepatomegaly, splenomegaly, an risk lymphoma. Additionally, these often associated disease, particularly involving blood cells. Understanding molecular pathogenesis conditions provided critical insights into signaling pathways regulate activation, shedding light on mechanisms dysregulation. This review focuses intersection between lymphoproliferation, discussing how dysregulation contributes These characterized excessive and/or immunodeficiency. their offered new activation.

Язык: Английский

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Research Progress of Small Molecule Targeted Anti-Inflammatory Drugs

Pharmacy Information, Год журнала: 2025, Номер 14(03), С. 179 - 187

Опубликована: Янв. 1, 2025

Язык: Английский

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Anti‐chitinase‐3‐like 1 antibody attenuated atopic dermatitis‐like skin inflammation through inhibition of STAT3‐dependent CXCL8 expression

British Journal of Pharmacology, Год журнала: 2024, Номер 181(17), С. 3232 - 3245

Опубликована: Май 14, 2024

Chitinase-3-like 1 (CHI3L1) causes skin inflammation in the progression of atopic dermatitis. We investigated if anti-CHI3L1 antibody could prevent development dermatitis and its mechanisms action.

Язык: Английский

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Omics in allergy and asthma

Journal of Allergy and Clinical Immunology, Год журнала: 2024, Номер unknown

Опубликована: Окт. 1, 2024

Язык: Английский

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