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کاربرد نوع شرط:
- جایگاه : پژوهشی
- مجله: Immunology and Genetics Journal
- نوع مقاله: Journal Article
- کلمات کلیدی: Whole exome sequencing,Severe Combined Immunodeficiency,Mucosa-associated lymphoid lymphoma translocation gene 1
- چکیده:
- چکیده انگلیسی: Severe combined immunodeficiency (SCID) is one of the most serious and life-threatening forms of primary immunodeficiency disorders (PID). SCID patients manifest a large clinically heterogeneous group of monogenic disorders caused by a defect in human innate and adaptive immune response. It leads to an increased susceptibility to variety of infections, sometimes with fetal outcome. To date, more than 30 candidate genes and mutations in patients with SCID phenotype have been identified. We found a homozygous variation (c.1454 A>G_ p. Asn485Ser) in the MALT1 identified by WES in an expired infant with SCID. The mutation in MALT1 is associated with absence of T cell activation, which produces immature lymphocytes leading to SCID.
- انتشار مقاله: 05-06-1399
- نویسندگان: Paniz Shirmast,Kimiya Padidar,Tannaz Moeini Shad
- مشاهده
- جایگاه : پژوهشی
- مجله: Immunology and Genetics Journal
- نوع مقاله: Journal Article
- کلمات کلیدی: Ataxia telangiectasia,primary immunodeficiency disorders (PID),ATM
- چکیده:
- چکیده انگلیسی: Abstract
Introduction: Ataxia telangiectasia (AT) is an autosomal recessive primary immunodeficiency (PID) disease with multisystem involvement caused by biallelic mutations in the ataxia telangiectasia mutated (ATM) gene. The patients with AT represent a broad range of clinical manifestations including progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, and susceptibility to malignancies. We aimed to determine different clinical features of the AT patients to identify their key diagnostic or prognostic characteristics.
Methods: In the present study, 120 patients with the confirmed diagnosis of AT were enrolled from Iranian immunodeficiency registry center. A demographic information, clinical complications, and laboratory data were obtained from all the patients to evaluate the clinical manifestations.
Results: In this study, we found that in the AT patients, the frequency of total infection, respiratory infection, gastrointestinal infection, urinary tract infection, chronic fever, lymphadenopathy, and hepatosplenomegaly were 83.3%, 68.3%, 18%, 6.7%, 26.7%, 7.5%, and 20%, respectively.
Conclusion: The AT patients present different types of infections and noninfectious complications; therefore, early detection and careful management is necessary for these patients.- انتشار مقاله: 29-10-1398
- نویسندگان: Tannaz Moeini Shad,MohammadReza Ranjouri,Parisa Amirifar
- مشاهده
- جایگاه : پژوهشی
- مجله: Immunology and Genetics Journal
- نوع مقاله: Journal Article
- کلمات کلیدی: Allergy,Primary immunodeficiency disorders (PIDs),Selective Immunoglobulin A Deficiency
- چکیده:
- چکیده انگلیسی: Introduction: Selective immunoglobulin a deficiency (IgAD) is the most frequent of the primary antibody deficiencies. Patients with IgAD can be either symptomatic or asymptomatic. Symptomatic patients suffer from a wide range of manifestations including allergy, malignancy, and autoimmunity. The prevalence of allergic diseases is assumed to be increased in IgAD patients. In this study, we aimed to evaluate the frequency of allergic disorders in IgAD patients as well as a comparison between these patients and IgA deficient patients without allergy.
Methods: The present cohort study included 166 IgAD patients who were diagnosed at the Research Center for immunodeficiencies in children's medical Center. To compare clinical data and laboratory records, all IgAD patients were classified into two groups as follows: patients with allergic diseases and patients without allergic diseases.
Results: Among 166 patients with IgA deficiency, allergy was seen in 33 patients (19.8%). In this study, respiratory tract infections were the most common clinical presentation in all patients (47.6%). Among the infectious manifestations, pneumonia and sinusitis were significantly higher in patients with allergy compared with patients without allergy (respectively 48.5% vs 26.3%; p = 0.013, 48.5% vs 20.3%; p = 0.001). Based on the laboratory data, the number of platelet and B cells (CD20+) were significantly higher in patients with allergy in comparison to patients without allergy (respectively, p = 0.025, p = 0.44)
Conclusion: The relation between IgAD disease and allergy could lead to severe clinical complications. Thus, these allergy disorders should be considered as an important feature for suitable management and enhancing the life quality in patients with IgAD.- انتشار مقاله: 29-10-1398
- نویسندگان: Samaneh Delavari,Tannaz Moeini Shad,Sahar Shariati,Fereshte Salami,Sahar Rasouli
- مشاهده
- جایگاه : پژوهشی
- مجله: Immunology and Genetics Journal
- نوع مقاله: Journal Article
- کلمات کلیدی: autoimmunity,Hyper IgM Syndrome,Immune trobocytopenia purpura
- چکیده:
- چکیده انگلیسی: Introduction: hyper-IgM (HIGM) syndrome is characterized by normal to increased serum IgM and very low or undetectable IgG, IgA, and IgE. HIGM (also known as class-switch recombination (CSR) defects) patients manifest different clinical manifestations such as autoimmune disorders. Aim of present study was to evaluate demographic data, clinical manifestation and immunological findings in HIGM patients.
Materials and Methods: Clinical features and immunological data were collected from the 79 Iranian HIGM patients’ medical records diagnosed in Children’s Medical Center in Iran. To compare clinical records and laboratory data, all HIGM patients were classified into two different groups patients with autoimmune disease and patients without autoimmune diseases.
Results: A total of 79 patients (60 male and 19 female ) with median (IQR) age at the time of the study of 12 (6-22.45). Autoimmunity diseases were seen in 19 patients (23.75% , 3 females and 16 males). Among the noninfectious manifestations, the hepatomegaly and spelenomegaly were significantly higher in patients with autoimmunity (p= 0.006) than patients without autoimmunity (p=0.006). The most common autoimmune presentations among HIGM patients were ITP (32%), juvenile rheumatoid arthritis (16%), autoimmune hemolytic anemia (11%) and Sclerosing cholangitis (11%), Gullain-Barré syndrome, Evans syndrome, diabetes mellitus and chrohn's disease.
Conclusions: The relation between HIGM syndrome and autoimmunity disorders could lead to sever clinical complications. So, we suggested that immunologists to be aware of this complications.- انتشار مقاله: 27-07-1398
- نویسندگان: Samaneh Delavari,Tannaz Moeini Shad,Salar Pashangzadeh
- مشاهده