title: Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.
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.
authors.affiliation: Department of Pediatrics, University of Brescia, Italy. Electronic address: serena.tripodi@alice.it.
authors.forename: Serena Ilaria
authors.initials: SI
authors.lastname: Tripodi
authors.affiliation: Department of Molecular and Translational Medicine, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Mazza
authors.affiliation: Department of Molecular and Translational Medicine, Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Moratto
authors.affiliation: Department of Pediatric and Public Health Sciences, University of Turin, Italy.
authors.forename: Ugo
authors.initials: U
authors.lastname: Ramenghi
authors.affiliation: Department of Pediatrics II, G. Gaslini Institute, Genoa, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Caorsi
authors.affiliation: Department of Pediatrics II, G. Gaslini Institute, Genoa, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Gattorno
authors.affiliation: Department of Pediatrics, University of Brescia, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Badolato
mesh_terms: D056735:Autoimmune Lymphoproliferative Syndrome / Q000235:genetics / Q000276:immunology*; D053455:Caspase 10 / Q000235:genetics*; D049109:Cell Proliferation; D002648:Child; D006801:Humans; D007239:Infections / Q000276:immunology*; D000072281:Lymphadenopathy; D008297:Male; D019683:Penetrance; D019655:Quantitative Trait, Heritable; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000378:metabolism; D012867:Skin / Q000276:immunology* / Q000382:microbiology / Q000473:pathology; D013281:Stomatitis, Aphthous; D013601:T-Lymphocytes / Q000276:immunology*
chemical_list: D016693:Receptors, Antigen, T-Cell, alpha-beta; D053455:Caspase 10; C506438:CASP10 protein, human
keywords: Autoimmunity; Immunodeficiencies; Lymphocytes