RESUMO
BACKGROUND: Hyper-IgE syndromes (HIES) are distinct diseases characterized by recurrent cutaneous and lung infections, eczema, and elevated serum IgE level. METHODS: In this study, clinical manifestations, immunologic findings, and genetic studies of all patients with HIES in the Iranian national registry database were evaluated. RESULTS: A total of 129 HIES patients with a median age of 14.0 (9.0-24.0) years were followed up for a total of 307.8 patient-years. Genetic studies showed heterozygous STAT3 mutations in 19 patients and homozygous DOCK8 mutation in 16 patients. The mean of National Institutes of Health score in STAT3-deficient patients was higher than in patients with DOCK8 mutation (P = 0.001). It was shown that the presence of pneumatocele and hematologic complication were significantly frequent in STAT3-deficient cases compared to patients with DOCK8 deficiency (P = 0.001 and P = 0.002, respectively). Moreover, the median IgE serum levels were higher in patients with STAT3 gene mutation than in patients with DOCK8 gene mutation (P = 0.02). The eosinophils' count was enhanced in patients with DOCK8 deficiency than in patients with STAT3 gene defects (P = 0.02). CONCLUSION: Specific molecular study of STAT3 and DOCK8 mutations in patients with HIES clinical phenotype could help the physician to definitively characterize the disease. Since HIES showed the highest rate of unsolved combined immunodeficiency, investigation of other genetic and environmental factors could also help in understanding the mechanism of remaining patients as well as providing strategy into therapeutic modalities.
Assuntos
Fatores de Troca do Nucleotídeo Guanina/genética , Infecções/epidemiologia , Síndrome de Job/epidemiologia , Pulmão/patologia , Mutação/genética , Fator de Transcrição STAT3/genética , Pele/patologia , Adolescente , Adulto , Criança , Estudos de Coortes , Feminino , Seguimentos , Humanos , Imunoglobulina E/sangue , Infecções/genética , Irã (Geográfico)/epidemiologia , Síndrome de Job/genética , Masculino , Adulto JovemRESUMO
BACKGROUND: The World Health Organization seeks to achieve the goal of viral hepatitis elimination by 2030 and lack of general knowledge about viral hepatitis seems to be a barrier to reaching this goal. This study was designed to evaluate the knowledge, attitude, and practice (KAP) regarding hepatitis B virus (HBV) and hepatitis C virus (HCV) infections among Iranian health sciences students in 12 Iranian medical sciences universities using a national survey. METHODS: This survey was conducted during the second Hepatitis Awareness Campaign, which was held during the Iranian National Hepatitis Week (October 22-28, 2016). Students who visited our booths and were willing to participate in our survey were selected using convenience sampling and their HBV- and HCV-related KAP were evaluated. RESULTS: Two thousand one hundred fifty-six health sciences students with mean age of 21.24 years participated in our survey. The mean KAP scores were 7.35 (out of 10), 4.88 (possible score, -20 to +20), and 5.67 (out of 9). Students with experience of accidental exposures to blood (21.6%) had better KAP scores compared with the students without such experiences. The mean KAP scores were associated with subjects' year of education, field of study, university, and province (P < .05). CONCLUSIONS: Our study showed that HBV- and HCV-related KAP in a sample of Iranian health sciences students was not satisfying. The results also demonstrated priority of needing intervention regarding KAP in some subject areas, lower years of education, and some universities compared with others.