The spectrum of inborn errors of immunity: a single tertiary center retrospective study in Alborz, Iran.

Summary: Background. Inborn errors of immunity (IEIs) are a group of heterogeneous disorders with inherited faults in the immune system that increase susceptibility to infections, malignancies, lymphoproliferation, and autoimmune/autoinflammatory disorders. Methods. We retrospectively studied the demographic characteristics, clinical features, and immunological profiles of the 90 IEIs patients, who were diagnosed and classified according to the European Society for Immunodeficiencies (ESID) and International Union of Immunological Societies (IUIS) criteria from July 2010 to June 2021. The study was carried out in the Non-communicable Diseases Research Center, Imam Ali Hospital, Alborz, Iran. Results. Within a period of 11 years, 53 (58.9%) males and 37 (41.1%) females were diagnosed and followed up for 20 IEI disorders. The median (IQR) age of onset, age of clinical diagnosis and diagnostic delay was 0.7 (0.08-2.0), 3.18 (1.0-8.0) and 1.5 (0.17-5.0) years, respectively. Twelve patients (36.4%) had a positive family history of IEI, and the majority of patients (84.5%) had recurrent infections. Pneumonia (51.7%) was the most common clinical manifestation among IEI patients, followed by skin complications (46.2%). The most frequently diagnosed IEI was immunoglobulin A deficiency (IgAD) (14.4%) and severe combined immunodeficiency (SCID) (11.1%). Predominantly antibody deficiencies group (36.7%) was the most common category, followed by combined immunodeficiencies with associated or syndromic features group (27.8%). Conclusions. IEIs have different patterns within populations with high consanguinity. There is a need to search for underlying genetic and epigenetic factors in most common IEIs in Alborz.

A bioinformatics approach for identification of miR-100 targets implicated in breast cancer.

MicroRNAs (miRNAs) are small endogenous non-coding RNAs with principal roles in regulation of protein expression via translation repression and mRNA degradation. Based on these roles they are implicated in tumourigenesis processes as well. Among them is miR-100 which can exert both tumor suppressor and oncogenic functions in various cancer types. In breast cancer, it has been shown to affect apoptosis, epithelial-mesenchymal transition as well as tumor-related signaling pathways. In the present study, we introduce a novel approach for identification of miR-100 target genes which are possibly implicated in breast cancer pathogenesis. We applied 14 online tools for prediction of miR-100 target genes and used gene expression data produced by DNA microarray technology. By combining these two sets of data we proposed a list of miR-100 target genes with possible involvement in breast cancer. Considering the role of miR-100 as a context-dependent chief regulator of the cancer-related signaling pathways and a potential target for therapeutic modalities, identification of its targets would pave the way for designing new approaches for cancer treatment or sensitization of cancer cells to standard treatments.