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کاربرد نوع شرط:
- 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: Pneumonia,Primary immunodeficiency,Hyper-immunoglobulin M syndrome,Class Switch Recombination,Genetic diagnosis
- چکیده:
- چکیده انگلیسی: Background: CD40 ligand (CD40L) deficiency is an X-linked form of hyper Immunoglobulin M syndrome (XHIGM) that is caused by mutations of CD40Lgene. The aim of the present study was to investigate the clinical and molecular basis of this disorder in a group of Iranian patients with a long period of follow-up.
Methods: A total number of 21 patients diagnosed with X-HIGM, who were referred to and followed up at Children’s Medical Center (Pediatrics Center of Excellence affiliated to Tehran University of Medical Sciences, Tehran, Iran), were included in this retrospective cohort study. The medical and immunologic evaluations of patients were followed by mutation analysis to confirm the diagnosis.
Results: The median age of all participants was 7.50 (4.87-16.25) years. The median age at the time of disease onset was 8.00 (6.00-13.50) months. The majority of patients showed their first manifestation before 4 years of age. The median age of diagnosis was 23.00 (12.50-48.00) months, with a median diagnostic delay of 9.00 (1.50-28.00) months. Anemia was the most common hematologic manifestation, occurring in 71.4% of the patients. The median serum IgM concentration was 206 (82-335) mg/dL. Elevated IgM levels were observed in fifteen patients based on age-references and six patients had normal IgM levels. The mutation analysis among patients with the CD40L mutations revealed 15 missense, 5 frameshift-nonsense, and 1 splice-site mutation. Eight patients (38%) died during the study period. Respiratory infection such as pneumonia were the main cause of death in the 5 patients.
Conclusion: Earlier diagnosis of X-HIGM may provide effective management and lead to patients’ survival and better quality of life. Moreover, using whole-exome sequencing for detection of patients with HIGM phenotype is strongly recommended to differentiate it from intrinsic humoral immunity defects and to initiation the appropriate therapeutic procedures and management.- انتشار مقاله: 28-04-1398
- نویسندگان: Niloofar Razavi Khorasani,Saba Fekrvand,Arash Dooghaie Moghadam,Bobak Moazzami
- مشاهده