A 7-month-old boy presented with chronic diarrhea, failure to thrive and
a generalized dermatitis with diffuse erythema. His family history was
relevant for a brother deceased at 1 year of age with a similar
phenotype. Physical examination revealed erythema, edema, induration and
ulceration, on the BCG vaccination site applied at birth. A 207-gene primary immunodeficiency NGS panel identified a
pathogenic variant c.1099T>C (p.Phe367Leu) in the forkhead
domain of the FOXP3 gene, confirming the diagnosis of IPEX
syndrome.
To our knowledge, BCG-site reactions have not previously been described
as a clinical manifestation of IPEX syndrome. In summary, BCGitis adds to the plethora of clinical manifestations of
IPEX syndrome, but its pathogenesis may be different from other IEI.
Selma Scheffler-Mendoza, MD.
Clinical Immunology Department. Instituto Nacional de Pediatría
Insurgentes Sur 3700C, Insurgentes Cuicuilco, Coyoacán, 04530, Mexico
City, Mexico.
drascheffler@hotmail.com.
Conflict of interest: All the authors declare not having any conflict of
interest.
References
1. Fekrvand S, Yazdani R, Olbrich P, et al. Primary Immunodeficiency
Diseases and Bacillus Calmette-Guérin (BCG)-Vaccine-Derived
Complications: A Systematic Review. J Allergy Clin Immunol Pract .
2020;8(4):1371-1386. doi:10.1016/j.jaip.2020.01.038
2. Bacchetta R, Barzaghi F, Roncarolo M-G. From IPEX syndrome to FOXP3
mutation: a lesson on immune dysregulation. Ann N Y Acad Sci .
2018;1417(1):5-22. doi:10.1111/nyas.13011
3. Yamazaki-Nakashimada MA, Unzueta A, Berenise Gámez-González L,
González-Saldaña N, Sorensen RU. BCG: a vaccine with multiple faces.Hum Vaccin Immunother . Published online January 29, 2020:1-10.
doi:10.1080/21645515.2019.1706930
4. Cardona P, Cardona P-J. Regulatory T Cells in Mycobacterium
tuberculosis Infection. Front Immunol . 2019;10:2139.
doi:10.3389/fimmu.2019.02139
5. Sato N, Sagawa K, Sasaguri Y, Inoue O, Kato H.
Immunopathology and
cytokine detection in the skin lesions of patients
with Kawasaki disease. J Pediatr. 1993 Feb;122(2):198-203.
6. Olivito B, Taddio A, Simonini G, et al. Defective FOXP3 expression in
patients with acute Kawasaki disease and restoration by intravenous
immunoglobulin therapy. Clin Exp Rheumatol . 2010;28(1 Suppl
57):93-97.