Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome
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Citações na Scopus
1
Tipo de produção
article
Data de publicação
2020
Título da Revista
ISSN da Revista
Título do Volume
Editora
ACADEMIC PRESS INC ELSEVIER SCIENCE
Autores
DANTAS, Anelisa G.
MATTA, Marina C.
MELARAGNO, Maria Isabel
TORRES, Leuridan C.
Citação
CLINICAL IMMUNOLOGY, v.220, article ID 108590, 3p, 2020
Resumo
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.
Palavras-chave
DiGeorge syndrome, 22q11.2 deletion syndrome, Immunodeficiency, Autoimmunity, Hypogammaglobulinemia
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