Evidence map›Paper›PMID 39840313›Full record

ArticleFrontiers in pediatrics2024

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

Kajetan Trojovsky, Maximilian Seidl, Florian Babor, Stephan Ehl, Min Ae Lee-Kirsch, Michael Friedt, Hans-Juergen Laws, Nibras Naami, Prasad Thomas Oommen, Sujal Ghosh

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Kajetan TrojovskyDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, Germany.
Maximilian SeidlInstitute of Pathology, Heinrich Heine University and University Hospital of Duesseldorf, Duesseldorf, Germany.
Florian BaborDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, Germany.
Stephan EhlCenter for Chronic Immunodeficiency, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Min Ae Lee-KirschDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Michael FriedtDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Division of Pediatric Gastroenterology, Heinrich-Heine-University and University Hospital, Duesseldorf, Germany.
Hans-Juergen LawsDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, Germany.
Nibras NaamiDepartment of Pediatric Oncology and Hematology Herdecke, University Hospital Witten/Herdecke, Herdecke, Germany.
Prasad Thomas Oommen *Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, Germany.
Sujal Ghosh *Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Suppressors of cytokine signaling (SOCS) proteins play a critical role in regulating immune signaling pathways. Deficiency of SOCS1 leads to various autoimmune pathologies. We present two unrelated patients with distinct clinical manifestations. Patient 1, a 16-year-old male from Guinea, presented with Evans Syndrome, musculoskeletal pain and elevated liver enzymes. Patient 2, a 6-year-old German boy, developed recurrent oral aphthous ulcers, mild inflammatory bowel disease and chronic recurrent multifocal osteomyelitis. Both patients were diagnosed with SOCS1 deficiency by genetic testing. Treatment strategies included steroids, JAK inhibition and colchicine. These cases emphasize the importance of considering SOCS1 deficiency in patients with autoimmune or autoinflammatory diseases but also in patients with unexplained elevated IgE levels. They highlight the need for further research in ongoing multicenter registries to better understand this condition.

Indexed as

autoimmunityautoinflammationCNOCRMOSOCS1SOCS1 deficiencySOCS1 haploinsufficiency

Identifiers

PMID39840313
PMCPMC11746893

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.