Inborn errors of immunity associated with characteristic phenotypes
J. pediatr. (Rio J.)
;
97(supl.1): 75-83, Mar.-Apr. 2021. tab
Artigo
em Inglês
| LILACS
| ID: biblio-1250223
ABSTRACT
Abstract Objectives:
The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity. Data source The data search was centered on the PubMed platform on review studies, meta-analyses, systematic reviews, case reports and a randomized study published in the last 10 years that allowed the characterization of the several immunological defects included in this group. Datasynthesis:
Immunodeficiencies with syndromic characteristics include 65 immunological defects in 9 subgroups. The diversity of clinical manifestations is observed in each described disease and may appear early or later, with variable severity. Congenital thrombocytopenia, syndromes with DNA repair defect, immuno-osseous dysplasias, thymic defects, Hyper IgE Syndrome, anhidrotic ectodermal dysplasia with immunodeficiency and purine nucleoside phosphorylase deficiency were addressed.Conclusions:
Immunological defects can present with very different characteristics; however, the occurrence of infectious processes, autoimmune disorders and progression to malignancy may suggest diagnostic research. In the case of diseases with gene mutations, family history is of utmost importance.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Erros Inatos do Metabolismo da Purina-Pirimidina
/
Doenças da Imunodeficiência Primária
/
Síndromes de Imunodeficiência
Tipo de estudo:
Ensaio Clínico Controlado
/
Fatores de risco
Limite:
Humanos
Idioma:
Inglês
Revista:
J. pediatr. (Rio J.)
Assunto da revista:
Pediatria
Ano de publicação:
2021
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Centro Universitário Saúde ABC/BR
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