Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Oct;205(4):1508-1515.
doi: 10.1111/bjh.19701. Epub 2024 Aug 18.

Association of paediatric autoimmune cytopenia and inflammatory bowel disease suggests a common genetic origin

M Gilton  1 , H Fernandes  2 , C Martinez  3 , G Leverger  4 , W Abou Chahla  5 , V Li Thiao Te  6 , M Deparis  7 , C Armari Alla  8 , N Garnier  9 , J Benadiba  10 , A Marie-Cardine  11 , F Rieux-Laucat  12 , C Picard  13 , N Aladjidi  2 , T Leblanc  14
Affiliations

Association of paediatric autoimmune cytopenia and inflammatory bowel disease suggests a common genetic origin

M Gilton et al. Br J Haematol. 2024 Oct.

Abstract

The association of autoimmune cytopenia (AIC) and inflammatory bowel disease (IBD) has been reported in small series, but the incidence of and risk factors for IBD in children with AIC are not known. One thousand six hundred nine children with chronic immune thrombocytopenic purpura, autoimmune haemolytic anaemia or Evans syndrome from the prospective OBS'CEREVANCE cohort are included in this study. Overall, 15 children were diagnosed with IBD, including 14 who developed IBD after AIC diagnosis (median delay: 21 months). The only risk factor for IBD development is age at AIC over 10 years. Out of 10 children genetically tested, germline variants associated with autoimmune disorders were identified in three (CTLA4: two, DOCK11: one). In children and adolescents monitored for AIC or past history of AIC, especially children over 10 years, gastro-intestinal (GI) symptoms (recurrent abdominal pains, GI bleeding, chronic diarrhoea, weight loss) should suggest IBD and deserve specific work-up and genetic studies. Identification of a causal germline variant will allow targeted therapy.

Keywords: autoimmune cytopenia; children; inflammatory bowel disease; primary immunodeficiency.

PubMed Disclaimer

References

REFERENCES

    1. Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, et al. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations. J Allergy Clin Immunol. 2021;148(5):1332–1341.e5.
    1. Carman N, Mack DR, Benchimol EI. Anticipatory care of children and adolescents with inflammatory bowel disease: a primer for primary care providers. Curr Opin Pediatr. 2019;31(5):654–660.
    1. Aladjidi N, Leverger G, Leblanc T, Picat MQ, Michel G, Bertrand Y, et al. New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children. Haematologica. 2011;96(5):655–663.
    1. Hadjadj J, Aladjidi N, Fernandes H, Leverger G, Magérus‐Chatinet A, Mazerolles F, et al. Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. Blood. 2019;134(1):9–21.
    1. Pincez T, Fernandes H, Leblanc T, Michel G, Barlogis V, Bertrand Y, et al. Long term follow‐up of pediatric‐onset Evans syndrome: broad immunopathological manifestations and high treatment burden. Haematologica. 2022;107(2):457–466.

Supplementary concepts

LinkOut - more resources