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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: Common variable immune deficiency (CVID),Infectious complications,Microbial Agents
- چکیده:
- چکیده انگلیسی: Background: Common variable immunodeficiency (CVID) is a common primary immunodeficiency disease defined by a failure in B cell differentiation and impaired immunoglobulin production. Subsequently CVID patients are remarkably susceptible to recurrent and multiple infections with bacterial, viral or fungal agents. In the present study, we aimed to provide an update report on different infectious complications of patients with CVID in Iran.
Methods: Demographic, clinical and immunologic data as well as history of infections with related microbial pathogens were obtained from records of patients diagnosed with CVID and followed up at Children’s Medical Center. Based on presence of meningitis, osteomyelitis and sepsis, 2 groups of severe infections and non-severe infections were defined for further investigations.
Results: Among the enrolled 301 CVID patients, 15 (5%) had severe and 286 (95%) had non-severe infections. Respiratory followed by gastrointestinal tract problems (83.1 and 71.4%, respectively) were the most common involved organs. Among the infectious complications, lower and upper respiratory tract infection, followed by mucocutaneous and gastrointestinal tract were the most frequent (76.1, 64.8, 21.6 and 19.6%, respectively). Candida followed by Giardia lamblia were the most common detected pathogens, respectively in those with opportunistic infections and infectious diarrhea.
Conclusion: Recurrent infections of various parts of body are the most prevalent manifestation among patients with CVID playing an important role in the morbidity and even mortality in those with prolonged and untreated infections. Recurrent infections initiating early in childhood should be paid attention and trigger further immunological work up for a possible underlying immunodeficiency especially in families with consanguineous marriage and/or a positive family history of primary immunodeficiency.- انتشار مقاله: 29-10-1398
- نویسندگان: Paniz Shirmast,Reza Mehrizi,Kimiya Padidar,Saba Fekrvand
- مشاهده
- جایگاه : پژوهشی
- مجله: Immunology and Genetics Journal
- نوع مقاله: Journal Article
- کلمات کلیدی: NF-κB,NFKB2,lymphopenia,chills
- چکیده:
- چکیده انگلیسی: NF-κB pathway is a complex protein playing an important role in regulating lymphocyte development, immune responses, inflammation, cell proliferation, and cell death. The NF-kB signaling pathway has been described to be associated with canonical and noncanonical pathway. The canonical pathway utilizes NF-kB1, whereas the latter pathway involves NF-kB2, which is the cornerstone of the non-canonical NF-kB pathway, and has been shown to be critical for the development of secondary lymphoid organs, B cell development, and the humoral response to T-dependent and T-independent antigens. In this study, we investigated the patient with chief complain of low body temperature as well as feeling cold even in the warm seasons since 15 years ago. We reported a middle age man with mild lymphopenia and no significant infection, but hypothermia with significant chills even in the warm seasons with a mutation in NF-κB2 pathway.
- انتشار مقاله: 27-07-1398
- نویسندگان: Arezou Rezaei,Paniz Shirmast,Mohammad Hossein Eslamian
- مشاهده
- جایگاه : پژوهشی
- مجله: Immunology and Genetics Journal
- نوع مقاله: Journal Article
- کلمات کلیدی: Keywords: Agammaglobulinemia,autoimmunity,Primary Immunodeficiency Disorders
- چکیده:
- چکیده انگلیسی: Background: Agammaglobulinemia is a primary immunodeficiency disorders (PID) which is identified by increased susceptibility to the bacterial infections, significant low antibodies and isohemagglutins and decreased peripheral B cells counts. Different clinical manifestations could be observed in these patients. Some of agammaglobulinemia patients manifest autoimmune disorders, while the association of autoimmunity and agammaglobulinemia is not clarified yet. In this study, we evaluated the frequency of autoimmunity in agammaglobulinemia patients and we compared their demographic, clinical and laboratory data in two groups of the patients with and without autoimmunity.
Material and Methods: The present study included 147 patients diagnosed with agammaglobulinemia who were diagnosed at the Research Centre for Immunodeficiencies at the children’s medical Centre. A comprehensive history, demographic information, clinical manifestations, laboratory data were obtained from all patients to assess the autoimmune complications.
Results: Among 147 agammaglobulinemia patients, we identified 21 (14.2%) (18 males and 3 females) agammaglobulinemia patients who had autoimmune disorders. In a total of the patients, the most prominent clinical presentation was respiratory infections (72.4%). Among autoimmune disorders, Juvenile Rheumatoid Arthritis was the most important autoimmunity (38%) following Immune thrombocytopenia with the frequency of 14%.
Conclusion: Autoimmune diseases are not very common among agammaglobulinemia patients, however, these disorders should be considered as an important factor for management in patients. Early diagnosis and proper management of autoimmunity in agammaglobulinemia cases lead to enhancement of patient's quality of life.- انتشار مقاله: 28-04-1398
- نویسندگان: Paniz Shirmast,Kawthar Jasim Mohammad Rida Al-Hussieni
- مشاهده