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

Author(s)

Soares, Diogo C. ^[1] ; Dantas, Anelisa G. ^[2] ; Matta, Marina C. ^[3] ; Pastorino, Antonio C. ^[1] ; Melaragno, Maria Isabel ^[2] ; Kulikowski, Leslie ^[4] ; Montenegro, Marilia ^[1] ; Kim, Chong A. ^[1] ; Carneiro-Sampaio, Magda ^[1] ; Torres, Leuridan C. ^[3]

Affiliation

^[1] Univ Sao Paulo, Fac Med FMUSP, Dept Pediat, Sao Paulo, SP - Brazil

^[2] Univ Fed Sao Paulo UNIFESP, Div Genet, Dept Morphol & Genet, Sao Paulo, SP - Brazil

^[3] Inst Med Integral Prof Fernando Figueira IMIP, Translat Res Lab, Recife, PE - Brazil

^[4] Univ Sao Paulo, Dept Pathol, Fac Med FMUSP, Sao Paulo, SP - Brazil

• Document type: Letter
• Source: Clinical Immunology; v. 220, NOV 2020.
• Web of Science Citations: 0

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. (AU)

• FAPESP's process: 14/50489-9 - Human thymus: development and diseases
• Grantee: Magda Maria Sales Carneiro-Sampaio
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 14/11572-8 - Chromosomal rearrangements and their relevance in the etiology of genetic disorders: cytogenomic and molecular investigation
• Grantee: Maria Isabel de Souza Aranha Melaragno
• Support Opportunities: Research Projects - Thematic Grants