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کاربرد نوع شرط:
- جایگاه : پژوهشی
- مجله: Iranian Journal of Immunology
- نوع مقاله: Journal Article
- کلمات کلیدی: Diagnosis,Prevalence,Primary Immunodeficiency Disorders
- چکیده:
- چکیده انگلیسی: Background: Primary immunodeficiency disorders (PID) are a group of hereditary disorders characterized by an increased susceptibility to severe and recurrent infections, autoimmunity, lymphoproliferative disorders, and malignancy.
Objective: To evaluate the demographic and clinical data of PID patients diagnosed in a referral pediatric hospital.
Method: All PID cases with a confirmed diagnosis, according to the criteria of International Union of Immunological Societies, who were referred to the Children’s Medical Center in Tehran, Iran, between March 2006 and March 2013 were enrolled in this retrospective cohort study.
Results: Three-hundred and seven PID patients were investigated. Predominantly antibody deficiencies were the most common group of PID observed in 118 cases (38.4%), followed by the well-defined syndromes with immunodeficiency in 52 (16.9%), congenital defects of phagocyte in 45 (14.7%), combined immunodeficiencies in 36 (11.7%), autoinflammatory disorders in 34 (11.4%), immune dysregulation in 11 (3.6%), complement deficiencies in 7 (2.3%), and defects in innate immunity in 3 (1%). Selective IgA deficiency was the most prevalent disorder which affected 46 individuals (14.9%). The median diagnostic delay was 15 months.
Conclusion: Increased awareness and availability of diagnostic tests could result in the better recognition of more undiagnosed PID cases and a decrease in diagnostic delay.- انتشار مقاله: 15-05-1395
- نویسندگان: Payam Mohammadinejad,Babak Mirminachi,Bamdad Sadeghi,Masoud Movahedi,Mohammad Gharagozlou,Javad Mohammadi,Hassan Abolhassani,Nima Rezaei,Asghar Aghamohammadi
- مشاهده
- جایگاه : پژوهشی
- مجله: Iranian Journal of Immunology
- نوع مقاله: Journal Article
- کلمات کلیدی: Class Switch Recombination,Hyper IgM Syndrome,Clinical Manifestation
- چکیده:
- چکیده انگلیسی: Background: Defects in B cell class switch recombination (CSR) are a heterogeneous and yet very uncommon group of disorders which all have a genetic basis uniformly leading to hyper IgM (HIgM) syndrome. Due to the rare frequency of these conditions, a very small number of case series have been conducted on the affected patients.
Objective: To shed some light on the morbidity and mortality regarding a relatively large cohort of diagnosed CSR defective Iranian patients.
Methods: This study was performed using demographic information, laboratory findings and clinical data obtained from an observation of 33 Iranian patients of different ethnicities referred from all medical centers of Iran to the Children’s Medical Center Hospital, pediatrics center of excellence, Tehran, Iran; of which 28 were males and 5 were females.
Results: Our patients mean age at the onset of symptoms was 1.8 ± 0.2 years; they were diagnosed with a mean delay of 4.4 ± 3.3 years and followed for a mean time of 5.7 ± 4.8 years. The most prominent clinical features observed were multi-organ infections, affecting mostly the respiratory system, followed by lymphoproliferative and autoimmune disorders, the latter being of much higher frequency (44%) in our study than the reported frequency in previous reports. The three year survival rate for our enrolled patients was 67.9%.
Conclusions: Based on our findings, the most common cause of death in HIgM patients is respiratory failure. The molecular mechanism behind the nature of the CSR defective patients in Iran is more compatible with autosomal recessive mutations rather than X-linked HIgM syndrome which is in contrast with other large cohorts of patients with CSR defect.- انتشار مقاله: 14-05-1395
- نویسندگان: Hassan Abolhassani,Fatemeh Akbari,Babak Mirminachi,Saeed Bazregari,Ehsan Hedayat,Nima Rezaei,Asghar Aghamohammadi
- مشاهده
- جایگاه : پژوهشی
- مجله: Immunology and Genetics Journal
- نوع مقاله: Journal Article
- کلمات کلیدی: Chronic granulomatous disease (CGD),NCF1 gene,nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme,p47Phox
- چکیده:
- چکیده انگلیسی: Chronic granulomatous disease (CGD) is an innate immunodeficiency characterized by an increased susceptibility to recurrent infections and granulomatous inflammation. CGD results from the loss of phagocyte superoxide production caused by a failure of the reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme. It is caused by recessive mutations in any of four genes that encode subunits of the NADPH oxidase. The most common autosomal recessive form of CGD is p47phox encoded by the NCF1 gene which is clinically milder. In this case study, we report a boy with lung abscess and recurrent oral thrush presentations. Whole exome sequencing (WES) test was performed to identify the underlying genetic mutation in this patient. WES of the patient reported a homozygous deletion mutation in the NCF1 gene (NM_608512: exon2: c.75_76delGT). Our data shows that early detection of NCF1 mutation has a wide heterogeneity in clinical manifestations of the patients.
- انتشار مقاله: 29-10-1398
- نویسندگان: Fereshte Salami,Ronak Mozafari Nezhad,Sahar Shariati,Babak Mirminachi
- مشاهده