Back to Search Start Over

Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature

Authors :
Mazdak Fallahi
Ali Akbar Velayati
Mahsa Rekabi
Payam Tabarsi
Seyed Alireza Mahdaviani
Parisa Farnia
Davood Mansouri
Mahnaz Jamee
Jacinta Bustamante
Afshin Moniri
Masoumeh Mohkam
Seyedeh Atefeh Hashemimoghaddam
Zahra Daneshmandi
Jean-Laurent Casanova
Majid Marjani
Niusha Sharifinejad
Source :
Pediatric Rheumatology Online Journal, Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-8 (2021)
Publication Year :
2021
Publisher :
Springer Science and Business Media LLC, 2021.

Abstract

BackgroundMendelian susceptibility to mycobacterial disease (MSMD) is an inborn error of immunity, resulting in susceptibility to weakly virulent mycobacteria and other intramacrophagic pathogens. Rheumatologic manifestations and vasculitis are considered rare manifestations in MSMD patients.Case presentationIn this study, we reported a 20-year-old female who was presented with recurrent lymphadenitis following bacillus Calmette-Guérin (BCG) vaccination and a history of recurrent disseminated rash diagnosed as leukocytoclastic vasculitis (LCV). A slight reduction in lymphocyte subsets including CD4+, CD19+, and CD 16 + 56 T-cell count, as well as an elevation in immunoglobulins level (IgG, IgA, IgM, IgE), were observed in the patient. Whole exome sequencing revealed a homozygous Indel-frameshift mutation, c.527_528delCT (p. S176Cfs*12), at the exon 5 of theIL12Bgene. She experienced symptom resolution after treatment with anti-mycobacterial agents and subcutaneous IFN-γ. We conducted a manual literature search for MSMD patients reported with vasculitis in PubMed, Web of Science, and Scopus databases. A total of 18 MSMD patients were found to be affected by a variety of vasculitis phenotypes mainly including LCV and Henoch-Schönlein purpura (HSP) with often skin involvement. Patients were all involved with vasculitis at the median age of 6.8 (2.6–7.7) years, nearly 6.1 years after the initial presentations. Sixteen patients (88.9%) hadIL12RB1defects and concurrentSalmonellainfection was reported in 15 (88.2%) patients.ConclusionThe lack of IL-12 and IL-23 signaling/activity/function and salmonella infection may be triggering factors for the development of leukocytoclastic vasculitis. IL12B or IL12RB1 deficiency and salmonellosis should be considered in MSMD patients with vasculitis.

Details

ISSN :
15460096
Volume :
19
Database :
OpenAIRE
Journal :
Pediatric Rheumatology
Accession number :
edsair.doi.dedup.....176e9995e2363b585c9d8ddaeeae4ac9
Full Text :
https://doi.org/10.1186/s12969-021-00623-0