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کاربرد نوع شرط:
- 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: Consensus,management,Symptoms,guideline,Primary immunodeficiency
- چکیده:
- چکیده انگلیسی: Primary immunodeficiency (PID) is a group of more than 400 distinct genetic disorders affecting both children and adults. As signs and symptoms of PID are usually heterogeneous and unspecific, based on the available human resources and laboratory facilities, diagnosis and follow-up of these patients can be challenging. In line with this notion, management and treatment of PID are practiced divergently in different PID centers. In order to reach a distinct national protocol and given the little evidence on appropriate or universal guidelines to improve the current status of management of the disease, the Iranian PID network designed a consensus suitable for regional resources. This review summarizes this PID guideline based on the importance of different clinical complications and the level of medical authority visiting those at the first line. Further, for each complication, appropriate interventions are mentioned to improve the approach.
- انتشار مقاله: 29-10-1397
- نویسندگان: Hassan Abolhassani,Marzieh Tavakol,Zahra Chavoshzadeh,Seyed Alireza Mahdaviani,Tooba Momen,Reza Yazdani,Gholamreza Azizi,Masoud Movahedi,Amir Ali Hamidieh,Nasrin Behniafard,Mohammamd Nabavi,Saba Arshi,Mohammad Hassan Bemanian,Morteza Fallahpour,Sima Shokri,Rasol Molatefi,Roya Sherkat,Afshin Shirkani,Reza Amin,Soheila Aleyasin,Reza Faridhosseini,Farahzad Jabbari-Azad,Iraj Mohammadzadeh,Javad Ghaffari,Alireza Shafiei,Arash Kalantari,Mahboubeh Mansouri,Mehrnaz Mesdaghi,Delara Babaie,Hamid Ahanchian,Maryam Khoshkhui,Habib Soheili,Mohammad Hossein Eslamian,Taher Cheraghi,Abbas Dabbaghzadeh,Mahmoud Tavassoli,Rasoul Nasiri Kalmarzi,Seyed Hamidreza Mortazavi,Sara Kashef,Hossein Esmaeilzadeh,Javad Tafaroji,Abbas Khalili,Fariborz Zandieh,Mahnaz Sadeghi-Shabestari,Sepideh Darougar,Fatemeh Behmanesh,Hedayat Akbari,Mohammadreza Zandkarimi,Farhad Abolnezhadian,Abbas Fayezi,Mojgan Moghtaderi,Akefeh Ahmadiafshar,Behzad Shakerian,Vahid Sajedi,Behrang Taghvaei,Mojgan Safari,Marzieh Heidarzadeh,Babak Ghalehbaghi,Seyed Mohammad Fathi,Behzad Darabi,Saeed Bazregari,Nasrin Bazargan,Alireza Khayatzadeh,Naser Javahertrash,Bahram Bashardoust,Mohammadali Zamani,Azam Mohsenzadeh,Sarehsadat Ebrahimi,Samin Sharafian,Ahmad Vosughimotlagh,Mitra Tafakoridelbari,Maziar Rahimi,Parisa Ashournia,Anahita Razaghian,Fatemeh Aghaeimeybodi,Setareh Mamishi,Nima Parvaneh,Nima Rezaei,Asghar Aghamohammadi
- مشاهده