Complete CD95/FAS deficiency due to complex homozygous germline TNFRSF6 mutations in an adult patient with mild autoimmune lymphoproliferative syndrome (ALPS)

Clin Immunol. 2021 Jul:228:108757. doi: 10.1016/j.clim.2021.108757. Epub 2021 May 13.

¹ Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
² Medical Genetics Laboratory, ASST-Spedali Civili, Brescia, Italy.
³ Flow Cytometry Unit, Clinical Chemistry Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.
⁴ Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Freiburg, Germany.
⁵ Hematology and Bone Marrow Transplantation Unit, Alto Adige Hospital, Bolzano, Italy.
⁶ Bone Marrow Transplant Unit, ASST-Spedali Civili Brescia, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
⁷ Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy. Electronic address: [email protected].

No abstract available

Keywords: ALPS; Autoimmunity; FAS; FAS/CD95 expression; Inborn errors of immunity; Lymphocyte.

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