RESUMO
BACKGROUND: Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency disorder mainly characterized by recurrent bacterial infections besides other immunological defects including loss of or dysfunction of B cells and decreased immunoglobulin levels. In this study, our aim is to evaluate clinical, immunological, and molecular data of patients with a primary clinical diagnosis of CVID and autoimmune phenotype with a confirmed genetic diagnosis. METHODS: Among 297 patients with CVID, who were registered in the Iranian Primary Immunodeficiency Registry at Children's Medical Center Hospital in Iran, 83 patients have been genetically examined and 27 patients with autoimmunity and confirmed genetic mutations were selected for analysis. Whole-exome sequencing and confirmatory Sanger sequencing methods were used for the study population. A questionnaire was retrospectively filled for all patients to evaluate demographic, laboratory, clinical, and genetic data. RESULTS: In the 27 studied patients, 11 different genetic defects were identified, and the most common mutated gene was LRBA, reported in 17 (63.0%) patients. Two patients (7.7%) showed autoimmune complications as the first presentation of immunodeficiency. Eleven patients (40.7%) developed one type of autoimmunity, and 16 patients (59.3%) progressed to poly-autoimmunity. Most of the patients with mono-autoimmunity (n = 9, 90.0%) primarily developed infectious complications, while in patients with poly-autoimmunity, the most common first presentation was enteropathy (n = 6, 37.6%). In 13 patients (61.9%), the diagnosis of autoimmune disorders preceded the diagnosis of primary immunodeficiency. The most frequent autoimmune manifestations were hematologic (40.7%), gastrointestinal (48.1%), rheumatologic (25.9%), and dermatologic (22.2%) disorders. Patients with poly-autoimmunity had lower regulatory T cells than patients with mono-autoimmunity. CONCLUSION: In our cohort, the diagnosis of autoimmune disorders preceded the diagnosis of primary immunodeficiency in most patients. This association highlights the fact that patients referring with autoimmune manifestations should be evaluated for humoral immunity.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Doenças Autoimunes/genética , Imunodeficiência de Variável Comum/genética , Síndromes de Imunodeficiência/genética , Mutação/genética , Adolescente , Adulto , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/epidemiologia , Autoimunidade/genética , Criança , Estudos de Coortes , Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/epidemiologia , Diagnóstico Tardio , Feminino , Humanos , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/epidemiologia , Irã (Geográfico)/epidemiologia , Masculino , Sequenciamento do Exoma , Adulto JovemRESUMO
Background: Acinetobacter baumannii strains with multiple antimicrobial resistance are primarily known as opportunistic nosocomial bacteria but they may also be regarded as emerging bacterial contaminants of food samples of animal origin. Here we aimed to study the molecular characteristics of the A. baumanni strains isolated from raw meat samples. Methods: A total of 22 A. baumanni strains were isolated from 126 animal meat samples and were genotyped by ERIC-PCR method and by PCR detection of their virulence and antimicrobial resistance determinants. A. baumannii strains with 80% and more similarities were considered as one cluster. Results: Sixteen different genetic clusters were found amongst the 22 A. baumanni strains. Of the 22 strains, 12 (54.54%) had similar genetic cluster. A. baumannii strains exhibited the highest percentage of resistance against tetracycline (90.90%), trimethoprim (59.09%), cotrimoxazole (54.54%) and gentamicin (50.00%). TetA (81.81%), tetB (72.72%), dfrA1 (63.63%), aac(3)-IV (63.63%), sul1 (63.63%) and aadA1 (45.45%) were the most commonly detected antibiotic resistance genes. FimH (81.81%), afa/draBC (63.63%), csgA (63.63%), cnf1 (59.09%), cnf2 (54.54%) and iutA (50.00%) were the most commonly detected virulence factors. A. baumannii strains isolated from the chicken meat samples had the highest similarities in the genetic cluster. Conclusions: A. baumannii strains with similar genetic cluster (ERIC-Type) had the same prevalence of antibiotic resistance, antibiotic resistance genes and virulence factors. Genetic cluster of the A. baumannii strains is the main factor affected the similarities in the genotypic and phenotypic properties of the A. baumannii strains.