1. Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome
- Author
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Marina Cadena da Matta, Leuridan Cavalcante Torres, Magda Carneiro-Sampaio, Anelisa Gollo Dantas, Maria Isabel Melaragno, Chong Ae Kim, Marília M. Montenegro, Leslie Domenici Kulikowski, Diogo Cordeiro de Queiroz Soares, and Antonio Carlos Pastorino
- Subjects
0301 basic medicine ,Unusual case ,business.industry ,Immunology ,medicine.disease ,medicine.disease_cause ,Autoimmunity ,Hypogammaglobulinemia ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,medicine.anatomical_structure ,DiGeorge syndrome ,Immunology and Allergy ,Medicine ,Deletion syndrome ,Presentation (obstetrics) ,business ,Immunodeficiency ,B cell ,030215 immunology - Abstract
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.
- Published
- 2020
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