B cells and T cells abnormalities in patients with selective IgA deficiency.

BACKGROUND: Selective IgA deficiency (SIgAD) is the most prevalent inborn errors of immunity with almost unknown etiology. This study aimed to investigate the clinical diagnostic and prognostic values of lymphocyte subsets and function in symptomatic SIgAD patients. METHODS: A total of 30 available SIgAD patients from the Iranian registry and 30 age-sex-matched healthy controls were included in the present study. We analyzed B and T cell peripheral subsets and T cell proliferation assay by flow cytometry in SIgAD patients with mild and severe clinical phenotypes. RESULTS: Our results indicated a significant increase in naïve and transitional B cells and a strong decrease in marginal zone-like and switched memory B-cells in SIgAD patients. We found that naïve and central memory CD4+ T cell subsets, as well as Th1, Th2 and regulatory T cells, have significantly decreased. On the other hand, there was a significant reduction in central and effector memory CD8+ T cell subsets, whereas proportions of both (CD4+ and CD8+) terminally differentiated effector memory T cells (TEMRA) were significantly elevated in our patients. Although some T cell subsets in severe SIgAD were similar, a decrease in marginal-zone and switched memory B cells and an increase in CD21low B cell of severe SIgAD patients were slightly prominent. Moreover, the proliferation activity of CD4+ T cells was strongly impaired in SIgAD patients with a severe phenotype. CONCLUSION: SIgAD patients have varied cellular and humoral deficiencies. Therefore, T cell and B cell assessment might help in better understanding the heterogeneous pathogenesis and prognosis estimation of the disease.

Single-pill sofosbuvir and daclatasvir for treating hepatis C in patients co-infected with human immunodeficiency virus.

BACKGROUND: The current recommendation for treating hepatitis C virus (HCV) in HIV patients includes the combination of sofosbuvir (SOF) and daclatasvir (DCV). DCV should be used at different doses to compensate for interactions with antiretroviral therapy (ART). Up to three pills a day might be required which will significantly add to the pill burden of these patients. In this study, we have used a single-tablet approach to treating HCV-HIV coinfection. METHODS: Patients coinfected with HIV and HCV were prospectively enrolled from 10 centers throughout the country. Patients received a single once-daily fixed dose combination (FDC) pill containing 400 mg SOF and 30, 60 or 90 mg DCV depending on the type of ART they were receiving for 12 or 24 weeks. (ClinicalTrials.gov ID: NCT03369327). RESULTS: Two hundred thirty-three patients were enrolled from 10 centers. Twenty-three patients were lost to follow-up and two patients died from causes unrelated to treatment. Two hundred eight patients completed the treatment course of which 201 achieved SVR (96.6%). CONCLUSION: Single-tablet combination of DCV and SOF is an effective and safe treatment for patients coinfected with HIV and HCV. The combination works well in patients on ART in which dose adjustment is required. Patients with cirrhosis, previous treatment failure and various genotypes respond identically. The expenses of genotyping can be saved.

Changes in liver fibrosis in patients with chronic hepatitis C after successful direct-acting antiviral therapy.

INTRODUCTION AND OBJECTIVES: After successful treatment of hepatitis C virus (HCV) infection with direct-acting antivirals (DAAs), the stage of liver fibrosis decreases over time. Here, we aimed to assess the changes in the liver fibrosis stage using transient elastography (TE) after successful DAA therapy in HCV-infected cirrhotic patients who were referred to Shariati hospital from 2016 to 2017. MATERIAL AND METHODS: In this observational cohort, all HCV-infected cirrhotic patients who were treated with a combination of sofosbuvir/daclatasvir, had sustained virologic response (SVR), and had undergone pre- and post-treatment TE, were enrolled. The primary outcome was the changes in TE parameters six months after the end of treatment compared with baseline. RESULTS: A total of 442 eligible subjects received DAA therapy. Overall, the SVR rate was 96.6%. Of these, 149 patients had completed the protocol and were enrolled. The mean age of patients was 56.1 ± 10.3 years and the predominant sex was male (77.9%). The median (Q1 -Q3 ) liver stiffness (LS) value at baseline was 26.3 kPa (18.1-38 kPa), which significantly decreased to 20.9 kPa (12-29.7 kPa) [z = -8.45, P-value < .001]. Also, the liver steatosis of patients with baseline CAP ≥ 220 dB/m had a significant response to treatment [z = -2.3, P-value = .023]. Based on multivariate analysis, a higher baseline liver fibrosis stage was the only determinant of LS values improvement in our study. CONCLUSION: Successful HCV eradication in patients with liver fibrosis results in significant improvement in LS, even in cirrhotic patients.

Upper Normal Limits of Serum Alanine Aminotransferase in Healthy Population: A Systematic Review.

BACKGROUND Measuring serum alanine aminotransferase (ALT) enzyme is a routine clinical test commonly used to evaluate abnormalities in the body in general, and in the liver function in particular. Higher ALT levels are associated with some metabolic disorders. The upper limit normal (ULN) is considered as a reliable threshold for the definition of high ALT. OBJECTIVES: To assess the existing evidence on the ULN for ALT in the general population. DATA SOURCE: PubMed (Medline), EMBASE, Scopus, and Web of Science (ISI) were searched using a specified search strategy. ELIGIBILITY CRITERIA: We collected documents published from 1980 to 2018 in the English language, focusing on human samples at the population level and extracted the data after qualitative evaluation. METHODS We conducted this study in accordance with the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) statement. We used specific search terms and their combinations to find documents from relevant databases. We used a snowballing approach to find documents not captured in the main phase of the search. Two authors separately conducted the search, screened the articles, and selected documents that were qualified for data extraction based on the defined inclusion criteria. Finally, data extraction was conducted by two authors using PRISMA checklist. Reported ULNs for ALT and 95% confidence intervals (CIs) were documented in previously developed datasheets. RESULTS Out of 15242 studies, 47 articles were included for data extraction and analysis. Data were sparse and lacked the consistency to precisely estimate ULN for serum ALT. The ULN of ALT was significantly diverse across various geographical locations and sexes. The lowest value of ULN for ALT was 19 IU/L in Chinese children (age range: 7 to < 10 years), and the highest value of ULN for ALT was 55 IU/L in children from Ghana aged < 5 years. LIMITATIONS: The main limitation of the current systematic review was the scarcity of the reported measures for ULN of ALT. CONCLUSION Based on the results of the current systematic review, it is suggested that the normal range of ALT be redefined, but this redefinition should be done according to the localized data. In order to redefine the ULN for ALT, regional differences, methods used in ALT measurements, and ULN determination should be considered.

Prevalence and Clinical Outcomes of Common Bile Duct Dilation in Patients Who Use Opium.

BACKGROUND: This study aimed to evaluate the association of various opium-related factors with common bile duct (CBD) diameter in individuals who use opium in the general population and investigate the clinical importance and long-term outcomes. MATERIALS AND METHODS: In this prospective study, 2,400 participants were randomly selected from the Golestan Cohort study. Opium consumption data were recorded. CBD diameter was measured by ultrasound. Transient elastography was performed at enrollment and 3 years later. Participants were followed up for at least 5 years. RESULTS: A total of 1,599 individuals, aged above 50 years, were enrolled and 167 subjects were users of opium. CBD diameter was significantly higher in users of opium than controls (mean ± standard deviation:5.54 ± 1.95 versus 4.74 ± 1.34mm, P < 0.001). This difference was noted with all opium types, but mostly by users of heroin (P < 0.001). Ingestion of opium caused greater CBD dilatation than inhalation (coefficient: 1.16; 95% CI: 0.05-2.27, P = 0.04 versus coefficient: 0.98; 95% CI: 0.75-1.20, P < 0.001). Transient elastography results did not show any association between fibroscan score change and CBD diameter. No major related malignancy was seen during follow-up. CONCLUSIONS: This study strengthened the evidence of an association of opium use with increased CBD diameter in a population-based setting without significantly increased risk of pancreaticobiliary malignancies or liver fibrosis. We cautiously suggest that opium-induced CBD dilatation may not require further diagnostic work-up.

Opium Use and Risk of Pancreatic Cancer: A Prospective Cohort Study.

Background: We examined the association between opium consumption and pancreatic cancer incidence in a large-scale prospective cohort of the general population in northeastern Iran.Methods: A total of 50,045 adults were systematically followed up (median of 7.4 years), and incident cases of pancreatic cancer were identified. Self-reported data on opium consumption was collected at baseline. Cumulative use (-year) was defined as number of nokhods (a local unit, approximately 0.2 g) of opium consumed per day multiplied by number of years consuming. Adjusted HRs and 95% confidence intervals (CIs) for the association between opium consumption and pancreatic cancer were calculated using Cox proportional hazards regression models.Results: Overall, 54 confirmed cases of pancreatic cancer were identified. Opium use of more than 81 nokhod-years (high cumulative use), compared with never use, was strongly associated with pancreatic cancer even after adjustments for multiple potential confounding factors [HR = 3.01; 95% CI, 1.25-7.26]. High cumulative consumption of opium was significantly associated with risk of pancreatic cancer after adjusting for cumulative dose of cigarette smoking [HR = 3.56; 95% CI, 1.49-8.50]. In a sensitivity analysis, we excluded participants (including 2 pancreatic cancer cases) who were recruited within the first 5 years of starting opium consumption; high cumulative use of opium was still associated with pancreatic cancer risk [HR = 2.75; 95% CI, 1.14-6.64].Conclusions: Our results showed a positive association between opium consumption and pancreatic cancer.Impact: This is the first prospective large-scale study to show the association of opium consumption with pancreatic cancer as a risk factor. Cancer Epidemiol Biomarkers Prev; 27(3); 268-73. ©2017 AACR.

Platelet rich plasma for treatment of non-scarring hair loss: systematic review of literature.

BACKGROUND: Although there are many studies showing the role of platelet rich plasma (PRP) in bone grafts, teeth osteosynthesis, and wound healing, there have been little peer reviewed studies about the safety and efficacy of PRP application in the treatment of hair loss. MATERIALS AND METHODS: In this systematic review, we searched Ovid Medline, Scopus and Web of Knowledge till November 2015 for human studies evaluating the efficacy of PRP for the treatment of non-cicatricial alopecia. RESULTS: Among 704 articles retrieved in first search, 18 articles matched our inclusion criteria, 14 for androgenic alopecia and four for alopecia areata. They included two case reports, eight case series, six controlled clinical trials and only two randomized controlled trials. CONCLUSIONS: Most of the available evidence has shown low quality and controversial results about the efficacy of PRP in treating non-cicatricial alopecias, including androgenetic alopecia and alopecia areata. Further randomized controlled studies with more sample size and standard protocols regarding the number and interval of treatment sessions, number of platelets, method of activation, etc., are required to investigate the efficacy and safety of PRP in treating hair loss.

MR enterography in nonresponsive adult celiac disease: Correlation with endoscopic, pathologic, serologic, and genetic features.

PURPOSE: To assess small bowel abnormalities on magnetic resonance enterography (MRE) in adult patients with nonresponsive celiac disease (CD) and investigate their associations with endoscopic, histopathologic, serologic, and genetic features. MATERIALS AND METHODS: This prospective study was carried out between September 2012 and August 2013. After approval by the Ethics Committee of our institution, informed consent was acquired from all participants. Forty consecutive patients with nonresponsive CD, aged 17-76 years, underwent MRE using a 1.5T unit. Sequences included T2 -HASTE, True-FISP, pre- and postcontrast VIBE to assess the quantitative (number of ileal and jejunal folds) and qualitative (fold pattern abnormalities, mural thickening, increased enhancement, bowel dilatation, or intussusception) measures. Endoscopic manifestations were categorized as normal/mild vs. severe. Histopathological results were divided into mild and severe. Genotyping of HLA-DQ2 and DQ8 was performed. Serum levels of tissue-transglutaminase, endomysial, and gliadin antibodies were also determined. Logistic regression analysis and receiver operating characteristic (ROC) curve were used. RESULTS: Twenty-nine (72.5%) cases showed abnormal MRE. Reversed jejunoileal fold pattern had significant association with severe endoscopic (odds ratio [OR] = 8.38, 95% confidence interval [CI] 1.73-40.5) and pathologic features (OR = 7.36, 95% CI 1.33-40.54). An increased number of ileal folds/inch was significantly associated with severe MARSH score and positive HLA-DQ8. (P < 0.001 and P = 0.026, respectively). Ileal fold number had the highest areas under the curve for prediction of severe endoscopic (AUC: 0.75, P = 0.009) and pathologic (AUC: 0.84, P < 0.001) findings and positive anti-transglutaminase antibody (AUC: 0.85, P = 0.027). CONCLUSION: Fold pattern reversal on MRE is highly associated with endoscopic and pathologic features of refractory celiac disease (RCD). Increased ileal folds showed higher correlation with endoscopic-pathologic features, HLA-DQ8, and anti-transglutaminase level. MRE might be more sensitive for detection of increased ileal folds in CD rather than reduction of duodenal and jejunal folds due to better distension of ileal loops. LEVEL OF EVIDENCE: 2 Technical Efficacy: Stage 3 J. Magn. Reson. Imaging 2017;46:1096-1106.

The Effect of Omentoplasty on the Rate of Anastomotic Leakage after Intestinal Resection: A Randomized Controlled Trial.

Anastomotic leakage is a major postoperative complication after intestinal surgery leading to increased risk of morbidity and mortality. Omentoplasty has been evaluated to prevent anastomotic leakage in several studies. However, there is no consensus regarding whether or not omentoplasty should be used to decrease the rate of anastomotic leakage after intestinal resection. A prospective, randomized study was conducted to evaluate the influence of omentoplasty on anastomotic leakage after intestinal resection. A total of 124 patients who underwent intestinal resection were enrolled in this prospective study. Patients were randomly assigned to receive either the omentoplasty or nonomentoplasty. In the omentoplasty group, the omentum was wrapped around the anastomotic region. Age, gender, site and type of anastomosis, duration of hospital stay, and performance of omentoplasty were recorded. This study was registered in Iranian Registry of clinical trial (number: IRCT201412316925N3). The rate of anastomotic leakage was significantly lower in the omentoplasty group (P = 0.04). Patients in the omentoplasty group developed a significantly lower rate of postoperative infection and peritonitis (P < 0.05). There was no significant difference of abscess and fistula formation between the two groups (P > 0.05). The length of hospital stay was longer in the nonomentoplasty group, compared with that for omentoplasty patients (P < 0.05). No death occurred in the omentoplasty subjects, while six nonomentoplasty patients died (P < 0.05). Our data demonstrated that omentoplasty is useful to lower the rate of postoperative complications in patients underwent intestinal surgery.

Height-adjusted percentiles evaluated central obesity in children and adolescents more effectively than just waist circumference.

AIM: We compared the prevalence of obesity based on both waist circumference for height and body mass index (BMI) in Iranian children and adolescents. METHODS: Data on 13 120 children with a mean age of 12.45 ± 3.36 years (50.8% male) from the fourth Childhood and Adolescence Surveillance and Prevention of Adult Non-communicable Disease study were included. Measured waist circumference values were modelled according to age, gender and height percentiles. The prevalence of obesity was estimated using the 90th percentiles for both unadjusted and height-adjusted waist circumferences and compared with the World Health Organization BMI cut-offs. They were analysed further for short, average and tall children. RESULTS: Waist circumference values increased steadily with age. For short and average height children, the prevalence of obesity was higher when height-adjusted waist circumference was used. For taller children, the prevalence of obesity using height-adjusted waist circumference and BMI was similar, but lower than the prevalence based on measurements unadjusted for height. Height-adjusted waist circumference and BMI identified different children as having obesity, with overlaps of 69.47% for boys and 68.42% for girls. CONCLUSION: Just using waist circumference underestimated obesity in some Iranian children and measurements should be adjusted for height.

Important Factors Influencing Severity of Common Variable Immunodeficiency.

BACKGROUND: Common variable immunodeficiency (CVID) is a primary immune deficiency with heterogeneous complications. The purpose of this study is to determine disease severity in a cohort of CVID patients based on the suggested scoring system and investigate predisposing factors which would be helpful to predict the severity of the disease. METHODS: The study population comprised 113 CVID patients (69 males and 44 females) who were visited at Children's Medical Center (Pediatrics Center of Excellence affiliated to Tehran University of Medical Sciences, Tehran, Iran) during the last 30 years (from 1984-2014). According to a suggested severity scoring system, patients were divided into two groups, A and B. The clinical severity of the disease in patients was assessed with severity scores including 15 unlucky complications of the disease such as numbers of past meningitis, encephalitis or pneumonias, development of bronchopulmonary pathologies, presence of lymphoproliferative disorders, autoimmunity or malignancy. RESULTS: The mean serum IgG level was significantly higher in group B (308.6±195.9) compared to group A (177.8 ± 151.9; P = 0.03). Patients in group B had a significantly higher percentage of CD8 (P = 0.003). However, they had lower percentage of CD4 lymphocytes (P = 0.08), switched memory B cells (CD27+IgM-IgD-) (P < 0.01) and regulatory T cells (P = 0.02) than group A. CONCLUSION: Using standard and universal scoring system and understanding of related factors can be applicable in clinical settings for prognosis assessment of CVID patients.

Solid Pseudopapillary Neoplasm of Pancreas; A Case Series and Review Literature.

BACKGROUND Information regarding solid pseudopapillary neoplasm (SPN) of the pancreas is limited in Iran. We aimed to review the clinicocytopathological features and follow-up of patients with SPN of pancreas who were diagnosed in a single center in Iran. METHODS Seven patients with SPN of the pancreas were diagnosed during January 2010 to March 2015 at the Digestive Disease Research Institute of Tehran University of Medical Sciences. The patients were reviewed prospectively. RESULTS Six out of the 7 patients were female and the mean age of all the patients was 29.4 years ranging from 15 to 61 years. The most common clinical presentation was nonspecific abdominal pain (N=6). The tumors were located mostly in head and neck of the pancreas. SPN was diagnosed in all patients by fine needle aspiration through endosonography (EUS-FNA). All patients underwent surgery. Histological findings of surgical tissues were consistent with EUS-FNA. The postoperative follow-up period of about 14 months was uneventful. CONCLUSION SPN of the pancreas is a rare pancreatic tumor which affects primarily young women. EUS-guided FNA could play an important role in preoperative diagnosis of SPN of the pancreas.

Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.

OBJECTIVES: Impairment in early B-cell development can cause a predominantly antibody deficiency with severe depletion of peripheral B-cells. Mutations in the gene encoding for Bruton's-tyrosine-kinase (BTK) and the components of the pre-B-cell receptor complex or downstream signaling molecules have been related to this defect in patients with agammaglobulinemia. METHODS: Iranian patients with congenital agammaglobulinemia were included and the correlation between disease-causing mutations and parameters such as clinical and immunologic phenotypes were evaluated in available patients. RESULTS: Out of 87 patients, a molecular investigation was performed on 51 patients leading to identification of 39 cases with BTK (1 novel mutation), 5 cases of µ-heavy chain (3 novel mutations) and 1 case of Igα-deficiencies. CONCLUSION: Although there is no comprehensive correlation between type of responsible BTK mutation and severity of clinical phenotype, our data suggest that BTK-deficient and autosomal recessive agammaglobulinemia patients differ significantly regarding clinical/immunologic characteristics.

Impact of Hepatitis C Virus Infection on Cognitive Function in Patients With Covert Hepatic Encephalopathy.

BACKGROUND: Liver cirrhosis has a significant impact on patient's quality of life and socioeconomic status and is associated with increased susceptibility to vehicle accidents and falls. OBJECTIVES: This study was conducted to evaluate cognitive function in patients with cirrhosis. PATIENTS AND METHODS: All subjects, who underwent transient elastography (TE) between March 2014 and August 2014 in Shariati outpatient clinic, Tehran, Iran, were enrolled in the study. The diagnosis of cirrhosis was made based on clinical and laboratory findings and liver stiffness measurement (LSM) values > 14. Wechsler Memory Scale (WMS) and simple visual reaction time (RT) were the neuropsychiatric tests used to assess cognitive function, in all subjects. RESULTS: A total of 37 cirrhotic patients and 37 matched controls were included. Patients with cirrhosis had significantly lower mean quotient (MQ) score, compared with controls (91 ± 18.2 vs. 114.6 ± 17.5, P <0.001). All of WMS subscales, except associate learning, showed statistically significant differences between the two groups. Reaction time was more prolonged in patients with cirrhosis, compared with controls. Cognitive function of hepatitis C virus (HCV) patients was significantly impaired, with respect to logical memory, visual reproduction and MQ score, compared to other underlying causes of cirrhosis (P = 0.01, P = 0.04, and P = 0.01, respectively). CONCLUSIONS: Our results suggested that neuropsychiatric and cognitive problems must be considered in the management of covert hepatic encephalopathy (HE) patients, especially in patients with HCV infection. The WMS and simple visual RT tests are useful methods for the early diagnosis of covert HE.

Important differences in the diagnostic spectrum of primary immunodeficiency in adults versus children.

Primary immunodeficiency disorders (PIDs) constitute a heterogeneous group of genetic disorders caused by defects in immunity, leading to recurrent infections, autoimmunity, lymphoproliferation and malignancies. Early diagnosis of PIDs is crucial for improving the quality of life in patients with PIDs while a delay in diagnosis, or inadequate treatment, results in an increased mortality and morbidity in affected individuals. Although most cases of PIDs present in children with recurrent and/or severe acute infections, some of the primary immune disorders are diagnosed during adulthood. Some common clues, both in children and adults, help physicians to diagnose PIDs; however, there are some specific clues to the diagnosis of PIDs for each group. This article reviews the important differences in the diagnostic spectrum of PIDs in adults versus children.

Long-term evaluation of a historical cohort of Iranian common variable immunodeficiency patients.

OBJECTIVES: Common variable immune deficiency (CVID) is the most frequent form of symptomatic primary immunodeficiency disease, characterized by hypogammaglobulinemia, recurrent infections and increased predisposition to autoimmunity and malignancies. The aim of this study was to reconsider important points of previously performed studies on Iranian CVID patients diagnosed and followed from 1984 to 2013. METHODS: Diagnosis was made using approved criteria including reductions of serum levels of immunoglobulins and exclusion of well-known single gene defects in individuals with an age >4 years and evidence of specific antibody deficiency. RESULTS: Detailed information on demographic data, survival rates, clinical phenotypes, immunologic and genetic data and treatment of 173 patients are provided. The early onset presentation (74.5%) and rate of consanguineous marriage (61.2%) were considerably higher in our cohort. Our study revealed clinically related correlations regarding consanguinity, the population of naïve CD4(+) T cells and switched-memory B cells, cytokine levels and special genetic factors (including HLA and AID genes). CONCLUSION: Despite current efforts, more comprehensive studies are needed, especially for classification and investigation of the genetic background and prognostic factors for patients with CVID in order to better managment and followup of patinets.

Morbidity and mortality of Iranian patients with hyper IgM syndrome: a clinical analysis.

BACKGROUND: Defects in B cell class switch recombination (CSR) are a heterogeneous and yet very uncommon group of disorders which all have a genetic basis uniformly leading to hyper IgM (HIgM) syndrome. Due to the rare frequency of these conditions, a very small number of case series have been conducted on the affected patients. OBJECTIVE: To shed some light on the morbidity and mortality regarding a relatively large cohort of diagnosed CSR defective Iranian patients. METHODS: This study was performed using demographic information, laboratory findings and clinical data obtained from an observation of 33 Iranian patients of different ethnicities referred from all medical centers of Iran to the Children's Medical Center Hospital, pediatrics center of excellence, Tehran, Iran; of which 28 were males and 5 were females. RESULTS: Our patients mean age at the onset of symptoms was 1.8 ± 0.2 years; they were diagnosed with a mean delay of 4.4 ± 3.3 years and followed for a mean time of 5.7 ± 4.8 years. The most prominent clinical features observed were multi-organ infections, affecting mostly the respiratory system, followed by lymphoproliferative and autoimmune disorders, the latter being of much higher frequency (44%) in our study than the reported frequency in previous reports. The three year survival rate for our enrolled patients was 67.9%. CONCLUSIONS: Based on our findings, the most common cause of death in HIgM patients is respiratory failure. The molecular mechanism behind the nature of the CSR defective patients in Iran is more compatible with autosomal recessive mutations rather than X-linked HIgM syndrome which is in contrast with other large cohorts of patients with CSR defect.

Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry.

BACKGROUND: Primary immunodeficiency disorders (PID) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections and increased susceptibility to malignancies, lymphoproliferative and autoimmune conditions. National registries of PID disorders provide epidemiological data and increase the awareness of medical personnel as well as health care providers. METHODS: This study presents the demographic data and clinical manifestations of Iranian PID patients who were diagnosed from March 2006 till the March of 2013 and were registered in Iranian PID Registry (IPIDR) after its second report of 2006. RESULTS: A total number of 731 new PID patients (455 male and 276 female) from 14 medical centers were enrolled in the current study. Predominantly antibody deficiencies were the most common subcategory of PID (32.3 %) and were followed by combined immunodeficiencies (22.3 %), congenital defects of phagocyte number, function, or both (17.4 %), well-defined syndromes with immunodeficiency (17.2 %), autoinflammatory disorders (5.2 %), diseases of immune dysregulation (2.6 %), defects in innate immunity (1.6 %), and complement deficiencies (1.4 %). Severe combined immunodeficiency was the most common disorder (21.1 %). Other prevalent disorders were common variable immunodeficiency (14.9 %), hyper IgE syndrome (7.7 %), and selective IgA deficiency (7.5 %). CONCLUSIONS: Registration of Iranian PID patients increased the awareness of medical community of Iran and developed diagnostic and therapeutic techniques across more parts of the country. Further efforts must be taken by increasing the coverage of IPIDR via electronically registration and gradual referral system in order to provide better estimation of PID in Iran and reduce the number of undiagnosed cases.

Evaluation of antibody response to polysaccharide vaccine and switched memory B cells in pediatric patients with inflammatory bowel disease.

BACKGROUND/AIMS: Inflammatory bowel disease (IBD) is a chronic disease of the gastrointestinal tract, whose etiologies are still unknown. This study was performed to evaluate the humoral immune response in terms of B cell functions in selected IBD patients. METHODS: Eighteen pediatric patients with IBD, including 12 cases of ulcerative colitis (UC) and six with Crohn disease (CD), were enrolled in this study. The pneumococcal vaccine was injected in all patients, and the IgG antibody level to the polysaccharide antigen was measured before and 4 weeks after injection. The B cell switch-recombination process was evaluated. RESULTS: Five patients with IBD (three CD and two UC) had defects in B cell switching, which was significantly higher than in controls (p=0.05). Ten patients had a specific antibody deficiency and exhibited a higher frequency of bacterial infection than the healthy group. The mean increased level of IgG after vaccination was lower in IBD patients (82.9±32.5 µg/mL vs 219.8±59.0 µg/mL; p=0.001). Among the patients who had an insufficient response, no significant difference in the number of switched memory B-cell was observed. CONCLUSIONS: A defect in B lymphocyte switching was observed in pediatric IBD patients, and especially in those patients with CD. Owing to an increased risk of bacterial infections in those patients with antibody production defects, pneumococcal vaccination could be recommended. However, not all patients can benefit from the vaccination, and several may require other prophylactic methods.

Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a.

This study describes the fifth case worldwide of autosomal recessive agammaglobulinemia due to a novel non-sense mutation in CD79a gene with a severe unusual onset due to an invasive central nervous system infection.