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Background: Selective IgA deficiency (SIGAD) is the most common primary antibody deficiency, characterized by significant decreased serum levels of IgA in the presence of normal IgG and IgM. Despite several investigations into the nature of the disease, the exact pathophysiology of SIGAD is still unknown., Methods: In this study, switched memory B cells (CD19+/CD27+/IgD- cell population) of 28 patients with SIGAD and 28 matched healthy controls were investigated using flow cytometry., Results: The percentage of switched memory B cells in all healthy controls was more than 0.4%. In SIGAD patients, who were classified as group I, the percentage of switched memory B cells was less than 0.4% (0.34 ± 0.06) in 7 patients (25%). The remaining 21 patients were designated as group II (1.74 ± 0.12%). The mean concentration of IgG in group I was significantly lower than in group II (1,014 ± 278 vs. 1,388 ± 406 mg/dl, p = 0.028). Comparison of clinical features between the 2 groups revealed that episodes of pneumonia during the course of disease were significantly higher in group I than in group II (p = 0.002). Autoimmune diseases in group I (57.1%) were also significantly higher (p = 0.01) than in group II (23.8%). The prevalence of bronchiectasis was 57% in group I, while only 1 patient (4.7%) in group II developed bronchiectasis (p = 0.006). Specific antibody deficiency in group I was documented in 5 patients and in group II in 4 patients (p = 0.01)., Conclusions: The classification of SIGAD patients by assessment of switched memory B cells could help physicians with the clinical prognosis for these patients, whereas the patients with reduced switched memory B cells are prone to severe phenotypes., (Copyright © 2011 S. Karger AG, Basel.)

Introduction: While many studies support the theory that environmental factors play a role in the development of type 1 diabetes mellitus (T1DM), controversy exists as to the contribution of any individual factor. The aim of the present study was therefore to investigate the associations of T1DM with several environmental factors., Material and Methods: A case-control study was conducted on children £ 16 years old who were diagnosed with T1DM and healthy age and sex-matched controls. Data regarding the socio-demographic status, gestational and neonatal risk factors were evaluated., Results: One hundred and one children with T1DM (41 males and 60 females), and the same number of age- and sex-matched controls, were included in the present study (mean age 10.3 ± 4.5 years). On multivariable logistic regression analysis, maternal age > 35 years at delivery, duration of > 6 months of cow milk feeding, lack of vitamin D supplementation and caesarean delivery were significantly associated with diabetes., Conclusion: In the present case-control study, certain environmental risk factors were associated with the development of T1DM.

Ataxia-telangiectasia (AT) and hyper-immunoglobulin M (HIGM) syndrome are both primary immunodeficiency diseases caused by different genetic defects. While a small proportion of AT patients have increased serum immunoglobulin (Ig) M concentrations during the course of a disease, a high level of IgM at onset is rare. We report the case of an 8-year-old girl who had experienced recurrent respiratory infection, cutaneous abscesses, and hepatosplenomegaly since the age of 2 years. She was diagnosed with HIGM based on the results of immunological studies, including low IgG and IgA levels and raised serum IgM concentrations. However, at the age of 4 years, a neurological examination revealed gait disturbance and telangiectatic lesions on the conjunctiva; therefore, a diagnosis of AT was suggested. In spite of regular intravenous immunoglobulin infusions and antimicrobial prophylaxis, the patient experienced several episodes of respiratory infection and eventually died of respiratory failure at the age of 8 years. Further molecular analysis revealed a novel homozygous missense mutation in exon 53 (c.8250C>T, p.2622Ala>Val) of the ATM gene. Patients with AT and the HIGM phenotype may not develop clinical characteristics of AT for some time. While patients with AT and increased serum IgM levels could have a considerably more severe disease course and a shorter survival, IgM levels could be considered a prognostic factor.

Background: Inflammatory bowel disease (IBD) is a group of disorders, including Crohn's disease (CD), ulcerative colitis (UC) and indeterminate colitis (IC). Small intestine and colon are primarily affected in this group of disorders., Purpose: This single center study was performed to define demographic features and clinical characteristics of Iranian pediatric patients with IBD., Method: Fifty nine patients with IBD, who have been referred to Children's Medical Center Hospital during a 10-year period, were investigated in this study. The data was gathered by interviewing the patients and their families, as well as reviewing their medical records., Results: Among 59 patients with IBD, 23 cases had UC and 19 cases had CD, while the remaining 17 cases had IC. Patients with UC were significantly younger at the time of diagnosis in comparison with patients with CD. The most common symptoms were abdominal pain, diarrhea, fever and growth failure. Hepatobiliary abnormalities and arthritis were common extra intestinal manifestations. The median Pediatric Crohn's Disease Activity Index was 42.5 (range 20-60), whereas the median Pediatric Ulcerative Colitis Activity Index was 40 (range 20-70). Seven of 23 UC (30.4%) had proctatis, while 16 (69.6%) had extensive colitis. In CD, 11 of 19 (57.9%) had involvement of terminal ileum and colon, while inflammation was limited to the colon in 8 cases (42.1%). The colonoscopic findings in the IC group were heterogeneous., Conclusion: This study provides epidemiological data on pediatric patients with IBD, which could be useful for health care workers in prompt diagnosis and appropriate treatment of early onset IBD.