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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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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]
Total Authors: 10
[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
Total Affiliations: 4
Document type: Letter
Source: Clinical Immunology; v. 220, NOV 2020.
Web of Science Citations: 0

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 type: 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 type: Research Projects - Thematic Grants