B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.

Hypogammaglobulinemia without B-cells is a subgroup of inborn errors of immunity (IEI) which is characterized by a significant decline in all serum immunoglobulin isotypes, coupled with a pronounced reduction or absence of B-cells. Approximately 80 to 90% of individuals exhibit genetic variations in Bruton's agammaglobulinemia tyrosine kinase (BTK), whereas a minority of cases, around 5-10%, are autosomal recessive agammaglobulinemia (ARA). Very few cases are grouped into distinct subcategories. We evaluated phenotypically and genetically 27 patients from 13 distinct families with hypogammaglobinemia and no B-cells. Genetic analysis was performed via whole-exome and Sanger sequencing. The most prevalent genetic cause was mutations in BTK. Three novel mutations in the BTK gene include c.115 T > C (p. Tyr39His), c.685-686insTTAC (p.Asn229llefs5), and c.163delT (p.Ser55GlnfsTer2). Our three ARA patients include a novel homozygous stop-gain mutation in the immunoglobulin heavy constant Mu chain (IGHM) gene, a novel frameshift mutation of the B-cell antigen receptor complex-associated protein (CD79A) gene, a novel bi-allelic stop-gain mutation in the transcription factor 3 (TCF3) gene. Three patients with agammaglobulinemia have an autosomal dominant inheritance pattern, which includes a missense variant in PIK3CD, a novel missense variant in PIK3R1 and a homozygous silent mutation in the phosphoinositide-3-kinase regulatory subunit (RASGRP1) gene. This study broadens the genetic spectrum of hypogammaglobulinemia without B-cells and presented a few novel variants within the Iranian community, which may also have implications in other Middle Eastern populations. Notably, disease control was better in the second affected family member in families with multiple cases.

Continuing professional development programs for general dentists in Isfahan province, Iran: Interests, priorities, and obstacles.

Background: Continuing professional development (CPD) is a life-long learning process for all health-care members including dentists to improve their knowledge and skills in their profession and provide the best quality services. This study aimed to assess the needs, priorities, and obstacles of attending dentists in these programs in Isfahan province, in 2020. Materials and Methods: This descriptive-analytical cross-sectional study was performed on general dentists in Isfahan province. Data were collected through a three-part questionnaire, online and on paper; it included demographic information, prioritization of seven disciplines, and scoring of 33 dental subfields, as well as obstacles limiting participation in the CPD programs. This questionnaire was developed and validated by researchers. Statistical analysis was carried out through Mann-Whitney, Kruskal-Wallis, and Chi-square tests, and a significance level of 0.05 was considered. Results: Of 326 dentists (90.5% response rate) participating in this study, 157 were (48.2%) female, and most of them were in the high work experience group (45.1%). The highest mean scores standard deviation related to the dentist's interest and needs, among the seven dental disciplines, belonged to practice management (6.68 [2.9]), oral and dental reconstruction (6.29 [2.55]), and pediatric dentistry (6.291 [2.87]). On the other hand, lack of time (70.6%), inefficient teaching methods and organization (65%), and irrelevant topics (58.6%) were the most common obstacles limiting dentists in the CPD programs. Conclusion: Based on the results of this study, dentists in Isfahan province reported more interest and need to participate in some fields of CPD courses including practice management, pediatric dentistry, and oral and dental reconstruction. Thus, a system for continuing education based on dentists' needs and preferences is highly suggested.