Herein we describe the case of a 8-years-old boy with diagnosis of atypical autoimmune lymphoproliferative syndrome (ALPS), carrying heterozygous mutation of CASP10 gene (I406L). He presented with multiple non-invasive infections of the skin, that were associated to chronic non-malignant non-infectious lymphadenopathy, failure to thrive, weakness, arthralgia, relapsing oral aftosis, and expansion of TCRαβ+ CD4−/CD8− T cells. This observation suggests that cutaneous infections can be observed in ALPS patients carrying CASP10 mutations.
ASJC Scopus subject areas
- Immunology and Allergy