ArticleJournal of clinical immunology2022
SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition.
Article in Journal of clinical immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Neurological Phenotypes of SOCS1 Haploinsufficiency: Insights from Functional and Histological Investigations.Journal of clinical immunology · 2025Article
- Article
- Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.The Journal of experimental medicine · 2024Article
- Type I interferon pathway in pediatric systemic lupus erythematosus.World journal of pediatrics : WJP · 2024Review
- Infections in Disorders of Immune Regulation.Pathogens (Basel, Switzerland) · 2024Review
- One gene to rule them all - clinical perspectives of a potent suppressor of cytokine signaling - SOCS1.Frontiers in immunology · 2024Review
- Case Report: Common variable immunodeficiency phenotype and granulomatous-lymphocytic interstitial lung disease with a novel SOCS1 variant.Frontiers in pediatrics · 2024Article
- SOCS1 deficiency-crossroads of autoimmunity and autoinflammation-two case reports.Frontiers in pediatrics · 2024Article
- SOCS1 is a critical checkpoint in immune homeostasis, inflammation and tumor immunity.Frontiers in immunology · 2024Review
- IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency.Journal of clinical immunology · 2023Article
- Protein kinases: drug targets for immunological disorders.Nature reviews. Immunology · 2023Review
- In cis "benign" SOCS1 variants linked to enhanced interferon signaling and autoimmunity.Journal of autoimmunity · 2023Article
- Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2023Article
- Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options.Journal of clinical immunology · 2023Article
- Phenotypic Variability of SOCS1 Haploinsufficiency.Journal of clinical immunology · 2023Article
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
Abstract
Haploinsufficiency of suppressor of cytokine signaling 1 (SOCS1) is a recently discovered autoinflammatory disorder with significant rheumatologic, immunologic, and hematologic manifestations. Here we report a case of SOCS1 haploinsufficiency in a 5-year-old child with profound arthralgias and immune-mediated thrombocytopenia unmasked by SARS-CoV-2 infection. Her clinical manifestations were accompanied by excessive B cell activity, eosinophilia, and elevated IgE levels. Uniquely, this is the first report of SOCS1 haploinsufficiency in the setting of a chromosomal deletion resulting in complete loss of a single SOCS1 gene with additional clinical findings of bone marrow hypocellularity and radiologic evidence of severe enthesitis. Immunologic profiling showed a prominent interferon signature in the patient's peripheral blood mononuclear cells, which were also hypersensitive to stimulation by type I and type II interferons. The patient showed excellent clinical and functional laboratory response to tofacitinib, a Janus kinase inhibitor that disrupts interferon signaling. Our case highlights the need to utilize a multidisciplinary diagnostic approach and consider a comprehensive genetic evaluation for inborn errors of immunity in patients with an atypical immune-mediated thrombocytopenia phenotype.
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