We report on pediatric patient with Nijmegen breakage syndrome (NBS), a rare DNA repair disorder characterized by microcephaly, immunodeficiency and predisposition to malignant lymphomas, who developed juvenile idiopathic arthritis (JIA)-like polyarthritis. In patients with primary immunodeficiencies (PID), septic arthritis due to pyogenic bacteria or mycoplasmal arthritis are the most common o...

OBJECTIVES We aimed to investigate the activity of ADA and its isoenzymes in serum of patients with various primary immunodeficiency (PID) syndromes. DESIGN AND METHODS Total ADA (tADA) and its isoenzymes were measured in 76 children with PID syndromes and 30 healthy controls using the Ellis method. RESULTS Our results indicated that tADA and ADA2 levels were higher in patients with Chronic...

patients  with  primary  antibody  deficiencies  (pad)  are  susceptible  to  recurrent  and chronic infections and a variety of complications. this study was performed to assess quality of life (qol) of pad patients who were under long term treatment and regular follow-up.thirty six adults with proved diagnosis of pad, who had received regular intravenous immunoglobulin replacement therapy, we...

This paper describes the burden of receiving immunoglobulin (Ig) treatment from perspective patients diagnosed with a Primary Immunodeficiency (PID). Thirty semi-structured interviews intravenous (n=21) and subcutaneous (n=9) therapy, either at home or in hospital were undertaken. Underpinned by phenomenological theoretical framework, using qualitative, inductive thematic approach to prioritise...

background: although the efficacy of bacillus calmette-guerin (bcg) vaccine in the prevention of tuberculosis has been noted consistently, the use of bcg vaccine is not without risk. in this study we aimed to evaluate immunologically, children with complication of bcg vaccination in north of iran.materials and methods: this case-control study began in 30 jan 2013 and was completed in 2 jul 2015...

Reported are the prevalence of reproductive tract infections and their contribution to pelvic inflammatory disease (PID), as well as the seroprevalence of human immunodeficiency virus (HIV), among women living in three inner city wards of Mumbai, India. Women aged < or = 35 years were recruited and screened as cases if they had been admitted to hospital for gynaecological investigation for susp...

Background: Primary antibody deficiency, the most common primary immunodeficiency disorder, represents a heterogeneous spectrum of conditions caused by a defect in any critical stage of B cell development and is characterized by impaired production of normal amounts of antigen-specific antibodies. Objective: This retrospective study aimed at description and analysis of demographic, clinical, im...

BACKGROUND/AIMS The aim of this study was to identify the profile of rare variants associated with Crohn's disease (CD) using whole exome sequencing (WES) analysis of Korean children with CD and to evaluate whether genetic profiles could provide information during medical decision making. METHODS DNA samples from 18 control individuals and 22 patients with infantile, very-early and early onse...