The sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing.

Individuals with inborn errors of immunity face challenges in fertility, pregnancy, and genetic disorder transmission. Prenatal genetic counseling is crucial, especially in tribal societies with consanguineous unions. Ten families with confirmed inborn errors of immunity were studied, revealing diverse pregnancy decisions: An architect with autosomal dominant STAT-1 gain of function underwent prenatal diagnosis despite initial plans for preimplantation genetic diagnosis. In a consanguineous family, two children died from leukocyte adhesion deficiency type 1 because the father refused prenatal diagnosis. First cousins opted against terminating the second pregnancy, resulting in two children affected by Bruton disease. Another consanguineous couple, with two children afflicted by ataxia-telangiectasia, chose oocyte donation for their third child, ensuring a healthy birth. Recurrent pregnancy loss was observed in a mother subsequently diagnosed with ZAP70 deficiency. A mother with Wiskott-Aldrich syndrome child opted for in vitro fertilization, leading to a healthy birth post-prenatal diagnosis. A misdiagnosis of anaplastic anemia occurred in a family with multiple instances of Wiskott-Aldrich syndrome. A leukocyte adhesion deficiency type 1 case led to parental dissolution due to the father's refusal to acknowledge the condition. In a non-consanguineous couple, the father's diagnosis of TACI deficiency influenced the mother's decision to discontinue pregnancy post-prenatal diagnosis. Genetic diagnosis alone cannot optimize prenatal care for immune dysregulation disorders. Various factors, including patient education, societal norms, ethics, and economics, impact pregnancy decisions. Clinical immunologists must integrate these elements into guidance strategies to enhance patient outcomes.

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.