
Immunology and Genetics Journal is the official journal of the Research Center For Immunodeficiencies, Tehran University of Medical Sciences. The journal is a Quarterly peer-reviewed, Open Access journal, publishing high quality scientific (basic and translational) and clinical-epidemiological papers on a wide range of pediatric and adult genetics and immunological topics, including Clinical Genetics, Clinical Immunology, Infection and Immunity, Autoimmunity, Immunobiology, Immunogenetics, Immunohematology, Immunopathology, Transplantation, and Cancer immunology.
This journal, which is supported by Universal Scientific Education and Research Network, publishes original articles, review articles, short communications, letters to the editors, clinical trials, systematic review and meta-analysis, and case reports. The quality and originality of the research are the most important criteria for acceptance. Immunology and Genetics Journal attempts to ensure a quick publication of all manuscripts while preserving the highest quality of contents.
All submitted manuscripts are checked for similarity through a trustworthy software named iThenticate to be assured about its originality.
Chimeric Antigen Receptor (CAR) T-cell therapy, originally developed for cancer treatment, is emerging as a promising therapeutic strategy for refractory neuroautoimmune diseases. By selectively targeting and eliminating autoreactive immune cells, particularly B cells, CAR T-cell therapy offers the potential for deeper and more durable remission compared with conventional immunosuppressive treatments. Early clinical evidence in disorders such as multiple sclerosis (MS), myasthenia gravis (MG), and neuromyelitis optica spectrum disorder (NMOSD) has demonstrated encouraging outcomes, including significant reductions in pathogenic antibodies, sustained disease remission, and successful central nervous system penetration with manageable toxicity profiles. Ongoing clinical trials are evaluating various CAR T-cell platforms, including CD19-, BCMA-, and chimeric autoantibody receptor (CAAR)-based approaches, across a broader range of neuroimmunological conditions. Despite these advances, important challenges remain, including treatment-related toxicities, manufacturing complexity, optimal target selection, long-term durability of response, and cost-effectiveness. Overall, CAR T-cell therapy represents a rapidly evolving and potentially transformative approach in neuroimmunology, with the capacity to redefine treatment paradigms for severe autoimmune neurological diseases.
Background: Allergic eye disease is a common immunological hypersensitivity disorder, with an increased prevalence over the past several decades. Due to the “united airway disease” concept, a possible association between allergic rhinitis, asthma, and allergic conjunctivitis seems to be rational. This study was conducted to evaluate the occurrence of allergic conjunctivitis separately, in association with allergic rhinitis, and/or along with asthma.
Method: A total of 194 patients with allergic rhinitis, who visited the Allergy Clinics of Tehran Islamic Azad University of Medical Sciences during the years 2024 and 2025, were included in this cross-sectional study to evaluate the existence of any accompanying allergic conjunctivitis, asthma, or sinusitis based on their self-report.
Results: Among the 194 patients suffering from allergic rhinitis, 109 (56.2%) were male and 85 (43.8%) were female. The mean age of the patients participating in the study was 29.78 years (minimum: 18 years; Maximum: 72 years). 99 patients (51%) had conjunctivitis, 79 patients (40.7%) had sinusitis, and 81 patients (42%) self-reported asthma in their previous history. There was neither a significant relationship between the occurrence of allergic conjunctivitis and sinusitis nor between asthma and allergic conjunctivitis (p =0.873).
Conclusion: To conclude, the results of this study confirm that symptoms of ocular allergy are common in patients with allergic rhinitis and it is higher in younger (18-40 years old) than older patients. The results also suggested that allergic conjunctivitis was a co-morbidity of other allergic diseases rather than a separate entity, at least in this study.
Objective: Gastrointestinal (GI) symptoms are associated with diabetes. Prevalent gastrointestinal complaints related to the manifestations of this disease include abdominal pain, diarrhea, bloating and vomiting. Some studies suggest that children with type 1 diabetes mellitus (T1DM) experience more gastrointestinal symptoms compared to their healthy peers. This study was conducted with the aim of investigating the prevalence of gastrointestinal symptoms in children with type 1 diabetes.
Method: In this cross-sectional descriptive-analytical study, 56 children with T1DM who referred to Bahrami Hospital in Tehran from April 2022 to March 2023 were enrolled. In a questionnaire, demographic characteristics, anthropometric data, gastrointestinal symptoms, clinical examination findings, and laboratory data were recorded.
Results: Out of 56 T1DM patients, 29 (51.8%) were boys. The mean age of the participants was 11 ± 4.04 years. 36 patients (64.3%) had at least one gastrointestinal symptom. The most common gastrointestinal symptom was abdominal pain, which was reported in 24 patients (42.9%)., A definitive gastrointestinal diagnosis was made in only 9 patients (16.1%) among whom 5 cases (8.9%) were celiac disease, 2 cases (3.6%) were constipation and 2 cases (3.6%) were gastroesophageal reflux disease (GERD). There was a statistically significant correlation between sex and the frequency of gastrointestinal symptoms (P=0.015). Moreover, there was no statistically significant relationship between the frequency of digestive symptoms and BMI, age, medical history, duration of diabetes diagnosis, HbA1C, duration of breastfeeding, consumption of powdered milk and consumption of cow's milk (P>0.05).
Conclusion: Gastrointestinal symptoms, especially abdominal pain, are common in children with T1DM, with a significant association with sex.
Objective: Hemoglobinopathies are the most common single-gene disorders in the world, and the global burden of disease is increasing day by day every year. The present study was conducted to investigate the prevalence of hemoglobinopathy C and its relationship with hematological indices in patients presenting with anemia.
Materials and Methods: In this analytical epidemiological study, the results of capillary electrophoresis tests of patients referred to the Baqaei Hospital and the reference laboratories of Khuzestan Province in 2023 were evaluated. Totally, 11000 patients diagnosed with anemia by a physician were examined. Blood indices of patients with hemoglobinopathy were compared with the normal range.
Results: Among 11000 patients, 13 patients had hemoglobinopathy C. In other words, the prevalence of this disease in Khuzestan province was 0.136%. The median hemoglobin in female and male was 12.2±2.5 and 13.7±2.7 gr/dl. Comparison of the normal range of hemoglobin with the patients' hemoglobin values indicated a decrease in this index (P<0.05). The median hemoglobin A2 index among the patients was 3.1±0.7, while the normal value of this index is 1.5 to 3.5, this index was within the normal range in patients. The median hemoglobin C in patients was 34.4±5.8. While the normal hemoglobin C level is in the range of 23.5 to 93.8, this index was significantly lower than the normal range.
Conclusion: Based on the results of the present study, 13 patients had hemoglobinopathy C (0.136%). Hematological indices except hemoglobin in these patients were not significantly different from normal levels. Further multicenter studies with larger sample sizes are recommended to confirm these results.
Systemic primary carnitine deficiency (SPCD) is a rare autosomal recessive metabolic disorder caused by mutations in the SLC22A5 gene, leading to defective carnitine transport and impaired fatty acid oxidation. Clinical presentations vary widely, from asymptomatic individuals detected via newborn screening to infants with severe multisystem involvement. Early recognition is critical; as timely L-carnitine supplementation can prevent life-threatening complications.
We report a 5.5-month-old male infant, born to consanguineous parents, who presented with recurrent vomiting, lethargy, poor feeding, and abnormal movements suggestive of seizures. Physical examination revealed generalized hypotonia, nystagmus, hepatomegaly, peripheral edema, and respiratory distress. Laboratory workup demonstrated anemia, coagulopathy, elevated liver enzymes, hypertriglyceridemia, and markedly low plasma free carnitine. Cardiac evaluation showed mild left ventricular hypertrophy and minor valvular regurgitation. Genetic analysis confirmed a pathogenic SLC22A5 mutation.
Treatment with L-carnitine supplementation, metabolic support, and seizure management led to rapid clinical and biochemical improvement. This case highlights the importance of considering PCD in infants with multisystem involvement, particularly in populations with high rates of consanguinity, and underscores the critical role of early diagnosis and intervention in improving outcomes.

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