Malignancies in the inborn errors of immunity.

Rev Assoc Med Bras (1992)

Universidade Federal de São Paulo - São Paulo School of Medicine, Research Department of Brazilian Association of Allergy and Immunology - São Paulo (SP), Brazil.

Published: June 2024


Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11164256PMC
http://dx.doi.org/10.1590/1806-9282.2024S104DOI Listing

Publication Analysis

Top Keywords

malignancies inborn
4
inborn errors
4
errors immunity
4
malignancies
1
errors
1
immunity
1

Similar Publications

Since its discovery in the late 18th Century, the role of vaccination in preventing death and disease has expanded across many infectious diseases and cancer. Key to our understanding of vaccine immunogenicity and efficacy is knowledge of the immune system itself. Inborn Errors of Immunity (IEI) represent a heterogeneous group of disorders characterised by impaired function of the immune system.

View Article and Find Full Text PDF

Purpose: Inborn errors of immunity (IEIs) caused by mutations in are associated with a broad range of clinical manifestations, ranging from relatively mild to life-threatening. Our aim was to give a clinical and molecular description of a Norwegian cohort with STAT1-related disease.

Methods: This is a descriptive epidemiological study.

View Article and Find Full Text PDF

Background: The majority of monogenic inborn errors of immunity presenting as actinopathies were reported originally from the Middle East and North Africa (MENA) countries indicating a high prevalence of these entities in the region. However, their prognosis is unclear due to rarity and lack of comprehensive treatment outcomes.

Methods: We evaluated clinical, immunological, and genetic abnormalities associated with 15 genetic entities of actinopathies.

View Article and Find Full Text PDF

Background: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, leading to defective DNA repair, genomic instability, and immune surveillance dysfunction. Therefore, A-T patients are predisposed to cancers, particularly hematological malignancies like lymphoma and leukemia.

Methods: To identify the characteristics of A-T cases with multiple cancers, we searched the Iranian A-T registry with 324 cases and conducted a systematic literature search in PubMed and Embase using appropriate keywords.

View Article and Find Full Text PDF

Background: Wiskott-Aldrich Syndrome (WAS) is a rare and severe X-linked immunodeficiency disorder characterized by microthrombocytopenia, eczema, and increased susceptibility to infections, autoimmunity, and malignancies. This study aims to explore molecular changes in the WAS gene in Brazilian patients and assess their correlation with clinical manifestations and disease severity.

Methods: Thirty-one patients from 27 families with thrombocytopenia suspected to have WAS or X-linked thrombocytopenia (XLT) were analyzed.

View Article and Find Full Text PDF