Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.

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Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.

Immunol Lett. 2016 Sep;177:22-4

Authors: Tripodi SI, Mazza C, Moratto D, Ramenghi U, Caorsi R, Gattorno M, Badolato R

Abstract
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.

PMID: 27378136 [PubMed - indexed for MEDLINE]

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