Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome.

Autor: Soares DC; Department of Pediatrics, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil. Electronic address: dsoares@usp.br., Dantas AG; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Matta MC; Translational Research Laboratory, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, PE, Brazil., Pastorino AC; Department of Pediatrics, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil., Melaragno MI; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil., Kulikowski L; Department of Pathology, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil., Montenegro M; Department of Pediatrics, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil., Kim CA; Department of Pediatrics, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil., Carneiro-Sampaio M; Department of Pediatrics, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil., Torres LC; Translational Research Laboratory, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, PE, Brazil.
Jazyk: angličtina
Zdroj: Clinical immunology (Orlando, Fla.) [Clin Immunol] 2020 Nov; Vol. 220, pp. 108590. Date of Electronic Publication: 2020 Sep 11.
DOI: 10.1016/j.clim.2020.108590
Abstrakt: 22q11.2 deletion syndrome (22q11.2DS) has a heterogeneous presentation that includes multiple congenital anomalies and immunodeficiency, one of the most striking features. Usually, it is characterized by T cell lymphopenia, B cell dysfunction and autoimmunity. Here, we describe an unusual case of 22q11.2DS in a patient with lymphoproliferative disorder, polyautoimmunity and hypogammaglobulinemia.
(Copyright © 2020 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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