Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40phox subunit of the phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 p40phox-deficient patients from 12 additional families in 8 countries. These patients display 8 different in-frame or out-of-frame mutations of NCF4 that are homozygous in 11 of the families and compound heterozygous in another. When ove...
INTRODUCTION: Up to 30% of patients treated with anti-tumor necrosis factor drugs do not respond adequately, and up to 50% lose response over time. Immunogenicity is now known to be one of the main causes of this loss of response. METHODS: Serum levels of adalimumab and anti-drug antibodies (ADAs) were measured in 19 patients with psoriasis. RESULTS: Eighty-nine percent of the patients were responders (Psoriasi...
BACKGROUND: Mastocytosis are rare diseases characterized by an accumulation of clonal mast cells (MCs) in one or multiple organs or tissues. Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V KIT mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. Indolent SM with recurrent anaphylaxis or vascular collapse in the absenc...
Chemotherapy is one of most significant therapeutic approaches to cancer. Immune system functional state is considered a major prognostic and predictive impact on the success of chemotherapy and it has an important role on patients' psychoemotional state and quality of life. In Chinese medicine, chemotherapy is understood as "toxic cold" that may induce a progressive hypofunctional state of immune system, thus ...
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Objectives: to evaluate breastfeeding and the frequency and diversification of feeding, in children in São Tomé e Príncipe (STP). Methods: the sample comprised 1,285 children. The protocol included the prevalence of exclusive (EMB) and total (TMB) maternal breastfeeding, the onset of nutritional diversification (ND) and a questionnaire on the frequency of feeding. The statistics were processed using SPSS®. The ...
RESUMO Introdução: O Síndrome de deleção 22q11.2 (SD22q11.2) tem uma incidência de 1/2000 a 1/7000 nados-vivos. Caracteriza-se por um grau variável de imunodeficiência que predispõe a infeções, nomeadamente sinopulmonares. Material e métodos: Estudo retrospetivo de 12 doentes, todos apresentando a del22q11.2 de novo, incidindo na caracterização imunológica e no tipo e número de infeções documentadas. Resultados...
Introdução A determinação dos anticorpos anti-dsDNA é um teste de grande importância para o diagnóstico e monitorização de doentes com Lúpus Eritematoso Sistémico (LES), fazendo parte dos critérios de classificação de LES do ACR. (American College of Rheumathology). Existem actualmente vários métodos laboratoriais disponíveis, que respondem de forma desigual na determinação destes anticorpos nos doentes, em dif...