Immunology and Genetics Journal
Volume:4 Issue: 3, Sep 2021

We report a case of Omenn syndrome due to a novel mutation of the gene DCLRE1C(Artemis). He was referred to our hospital with a complaint of protracted diarrhea, erythematoexfoliative rash, urinary tract infection, pneumonia, and failure to thrive. He was 2 months old. At the first sight, the diagnoses of Omenn syndrome, graft versus host disease (GVHD), Netherton syndrome, and Atopic dermatitis came to mind. Laboratory evaluation showed lymphopenia, eosinophilia, high IgE, and whole-exome sequencing revealed a mutation of the DCLRE1C gene. After obtaining blood samples, he received broad-spectrum antibiotics, antifungals, antiviral, prophylaxis for pneumocystis Jirovecii pneumonia, and Intravenous immunoglobulin. He expired owing to delayed referral and overwhelming sepsis before receiving bone marrow transplantation. In every neonate infant presenting with erythematoexfoliative skin rash, refractory infection, and lymphopenia, Omenn syndrome should be considered.

Antibiotic resistance has been around for years and could lead to a serious crisis in the near future. If the problem of antibiotic resistance is not solved, it is estimated that the increase in antimicrobial resistance would kill 10 million people a year by 2050 (more than the number of cancer deaths) and cost the world economy about 100 trillion USD, which will require immediate development of alternative treatments (1) (2). This problem prompted scientists to find a solution; one of these strategies is the use of bacteriophages as an alternative to antibiotics. In this review article, I will first focus on bacteriophages from various aspects and then, by analyzing the available information, I will try to answer the following questions: Given the meager standard clinical data and characteristics of bacteriophages, is bacteriophage therapy a safe and reliable method? Given the short time left before the antibiotic resistance crisis, is it cost-effective to invest in bacteriophage? Are bacteriophages a double-edged sword? (Besides being used to treat bacterial diseases in the future, do bacteriophages have the potential to become a human virus in the future?)

Comprised of two main subtypes (Ulcerative Colitis (UC) and Crohn), inflammatory bowel disease is caused by an interaction between genetic and environmental factors. As of the important role of innate immunity and JAK/STAT signaling pathway, the current study was designed to investigate the methylation status JAK2 gene in blood and tissue samples of patients with UC.

Genomic DNA was extracted from blood and intestinal biopsy samples of 28 UC patients and 28 controls. After bisulfite DNA conversion, real-time quantitative multiplex methylation specific PCR (QM-MSP) method was applied in order to assess JAK2 promotor methylation status.

The JAK2 promotor in the intestinal biopsy samples was significantly hypermethylated in UC as the mean of unmethylated DNA was 1.255±1.865 in the patients group, while it was 1.292±4.726 in control group (P=0.002).

Hypermathylation of JAK2 gene may play a part in pathophysiology of UC which could result in gene silencing.

Adenoidal hypertrophy (AH) is a common disorder in pediatric population with severe complications due to nasal air way obstruction. Adenoidectomy is a choice treatment for children with severe symptoms due to AH, however; it is accompanied with several side effects such as complication of surgery and emotional distress. We evaluated the efficacy of intranasal corticosteroid (Fluticasone) therapy on size and symptoms of Adenoid Hypertrophy.

In this clinical trial 45children with AH (2-14 years old) were enrolled. All of them underwent 8 weeks course of intranasal Fluticasone therapy and their symptoms before and after treatment were scored and also compared by questionnaires. They were divided into Atopic and non- Atopic groups and these two groups were compared with each other after treatment according to their response to therapy.

After 8 weeks treatment with intra nasal fluticasone, improvement in all symptoms score of AH including (Snoring , Sleep Apnea ,Mouth breathing and Nasal congestion)  was statistically significant(p=0.000). Significant improvement after treatment was observed in atopic patients and 92% of them (36 of 39) showed decrease clinical symptom of AH however this number in non-atopic patients was 50% (p value =0.024).

Our study demonstrates that an 8 weeks treatment with intranasal corticosteroid (Fluticasone) is associated with decrease in size of AH and all symptoms of obstruction. So intranasal corticosteroid therapy can prevent of adenoidectomy especially in atopic patients.

Autosomal-recessive immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is mainly determined by recurrent tract respiratory and gastrointestinal infections in early childhood due to agammaglobulinemia. Most patients with ICF syndrome die of infection at a young age, usually in the first or second decade of life. The leading cause of ICF disorders is mutations in genes whose products play a role in DNA methylation. ICF syndrome is classified into two groups: type 1 (ICF1) patients have mutations in the DNMT3B gene, and about half of type 2 (ICF2) patients have mutations in the ZBTB24 gene. In this study, we report the case of a 34-year-old female of Iranian consanguineous parents, who was diagnosed at one year of age with ICF-2 syndrome with recurrent infections, mental retardation, and a homozygous novel mutation in the ZBTB24 gene.