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کاربرد نوع شرط:
- جایگاه : پژوهشی
- مجله: Iranian Journal of Immunology
- نوع مقاله: Journal Article
- کلمات کلیدی: Immunodeficiency,Abatacept,CTLA-4 Deficiency,Haploinsufficiency,Multiple Autoimmunities
- چکیده:
- چکیده انگلیسی: Increased susceptibility to autoimmunity, malignancy, and allergy in addition to recurrent infections are the main characteristics suggesting for the primary immunodeficiency diseases (PID). CTLA-4 is predominantly expressed on activated and regulatory T-cells, which can bind to CD80/CD86 molecules on antigen-presenting cells as a negative regulator. Here, we describe a 24-year-old male born from consanguineous parents with heterozygous CTLA-4 mutation who presented with multiple autoimmune diseases. His past clinical history revealed alopecia areata at
four years old and subsequently, he developed Evans syndrome, type 1 diabetes mellitus, hypothyroidism, and chronic diarrhea while chronic rhinosinusitis and cytomegalovirus (CMV) colitis were the only infectious manifestations. Immunologic investigations revealed: low B cell count, abnormal Lymphocyte transformation test (LTT) to phytohemagglutinin (PHA), and hypogammaglobulinemia. Although all available treatments such as Intravenous Immunoglobulin (IVIG) therapy, immunosuppressive drugs, and antibiotic therapy were applied, diarrhea was not controlled due to colitis, which remained challenging. Whole exome sequencing was performed and the result showed heterozygous variant CHR2.204,735,635 G>A in the CTLA-4 gene, which was confirmed by the Sanger method. CTLA4 haploinsufficiency leads to autoimmune disorders, recurrent respiratory infections, hypogammaglobulinemia, lymphoproliferation with organ infiltration, and lymphocytic interstitial lung disease.- انتشار مقاله: 31-01-1399
- نویسندگان: Fatemeh Zaremehrjardi,Leila Baniadam,Farhad Seif,Saba Arshi,Mohamad Hasan Bemanian,Sima Shokri,Afshin Rezaeifar,Morteza Fallahpour,Mohammad Nabavi
- مشاهده
- جایگاه : پژوهشی
- مجله: Iranian Journal of Immunology
- نوع مقاله: Journal Article
- کلمات کلیدی: Severe Combined Immunodeficiency,Atypical Omen Syndrome,Atypical SCID,RAG 2 Mutation
- چکیده:
- چکیده انگلیسی: Severe Combined Immunodeficiency (SCID), characterized by a profound decrease in both the number and function of T cells, is related to more than 20 different mutations. Recombination-activating gene (RAG) 1 and 2 seem to be two of the most common forms presenting with various manifestations, including typical SCID, Omenn syndrome (OS), atypical SCID (AS), or delayed onset combined immunodeficiency with granulomas. One interesting manifestation in RAG mutation is the change in the immunophenotype over time, even after hematopoietic stem cell transplantation (HSCT). As bone marrow transplantation (BMT) is the only curative treatment of SCID, it is necessary to differentiate between SCID and OS due to the different conditioning regimens (CR). We present a novel case of atypical SCID (SCID manifestations with more than 300 CD3+T cells) caused by RAG 2 gene mutation whose immunophenotype changed to atypical Omenn syndrome (all Omenn syndrome manifestations except rash, eosinophilia, and elevated IgE) over time.Differentiation of leaky SCID, SCID and Omenn syndrome in RAG mutation genes and overlap manifestations is important in treatment plan and prognosis.
- انتشار مقاله: 05-03-1398
- نویسندگان: Ali Pourvali,Saba Arshi,Mohammad Nabavi,Mohammad Hasan Bemanian,Sima Shokri,Mohammad Shahrooei,Nima Rezaei,Morteza Fallahpour
- مشاهده
- جایگاه : پژوهشی
- مجله: Immunology and Genetics Journal
- نوع مقاله: Journal Article
- کلمات کلیدی: STAT3,Hyper IgE syndromes,DOCK8
- چکیده:
- چکیده انگلیسی: Hyper IgE syndromes are groups of primary immunodeficiency diseases which present with a series of symptoms including recurrent infections accompanied by elevated serum IgE level and some atopic features. Both autosomal dominant and recessive mutations may cause hyper IgE syndrome. The autosomal dominant forms are mutations in signal transducer and activator of transcription3 (STAT3), ERBB2 and CARD11. The recessive forms are mutations in dedicator of cytokinesis8 (DOCK8) , phosphoglucomutase3 (PGM3) , thyrosin kinase2 (TYK2) and interleukin-6 ST. There are some features that help distinguish among different types of hyper IgE syndrome. In autosomal dominant form, connective tissue, skeletal and vascular abnormalities are prominent. In autosomal recessive form, viral infections, malignancies and neurological disorders are more prominent. The definite diagnosis is made by mutation analysis.
- انتشار مقاله: 28-04-1398
- نویسندگان: Marzieh Tavakol,Samin Sharafian,Fereshteh Salari,Sima Shokri
- 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