Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation

Serena Ilaria Tripodi, Cinzia Mazza, Daniele Moratto, Ugo Ramenghi, Roberta Caorsi, Marco Gattorno, Raffaele Badolato

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)22-24
Number of pages3
JournalImmunology Letters
Volume177
DOIs
Publication statusPublished - Sep 1 2016

Keywords

  • Autoimmunity
  • Immunodeficiencies
  • Lymphocytes

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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