Immunology and Genetics Journal

A Call for Action for an Integrated National Registry of Familial Mediterranean Fever (FMF) Patients and MEFV Gene Variants in Iran

Nikki Asgari — 2026-07-18

The Article Abstract is not available.

CTLA-4 Deficiency: Pathophysiology, Clinical Manifestations, and Immunological Findings

Ayda Firouzabadi — 2026-07-18

Cytotoxic T-lymphocyte associated protein 4 (CTLA-4) deficiency is a primary immune regulatory disordercaused by heterozygous germline loss-of-function variants in the CTLA4 gene. CTLA-4 is expressed mainlyon activated T cells and regulatory T cells that plays a key role in maintaining immune tolerance by limitingT-cell activation. Also, CTLA-4 has recently become a key target in immune checkpoint-based therapeutics,particularly in cancer treatment via the use of monoclonal antibodies against this molecule. Loss of CTLA-4function leads to uncontrolled T-cell activation and impaired Treg-mediated immune regulation. Conse-quently, this immune dysregulation underlies the coexistence of autoimmunity and immune deficiency.Hypogammaglobulinemia is one of the most common immunologic findings in CTLA-4 deficiency andmay resemble common variable immunodeficiency. However, CTLA-4 deficiency is a multisystem disorder.Clinical manifestations are highly variable and may include recurrent respiratory infections, bronchiectasis,chronic diarrhea, malabsorption, autoimmune cytopenia, lymphadenopathy, splenomegaly, and organ infil-tration. Laboratory findings commonly include lymphopenia, reduced naïve CD4+ T cells, increased activat-ed T cells, impaired regulatory T-cell function, reduced CD19+ B cells, decreased class-switched memory Bcells, expanded CD21-low B cells, reduced natural killer cells, and low serum immunoglobulin levels. Rec-ognition of these clinical and laboratory features is essential for early diagnosis, appropriate management,and improved long-term outcomes in patients with CTLA-4 deficiency. This study reviews the pathophysi-ology, clinical manifestations and laboratory findings in patients with CTLA-4 deficiency

The Association of BRAF Single Nucleotide Polymorphism (rs113488022) with Clinical Characteristics and Postoperative Outcomes of Craniopharyngioma

Sara Hanaei — 2026-07-18

Background: Craniopharyngiomas are benign but locally aggressive sellar tumors with high postoperative mor- bidity. The BRAF V600E mutation is a hallmark of the papillary subtype, yet its prognostic significance remains controversial. Most studies have focused on papillary craniopharyngiomas, while the potential role of BRAF gene variations in clinical outcomes across both subtypes has been underexplored. This study investigated the association of BRAF single nucleotide polymorphism with clinical characteristics and postoperative outcomes in patients with craniopharyngioma.

Methods: The current historical cohort study included 47 patients with histopathologically confirmed craniophar- yngioma who underwent endoscopic endonasal resection. BRAF rs113488022 genotyping (TT, TC, CC) was per- formed on DNA extracted from formalin-fixed paraffin-embedded tumor specimens using real-time PCR. Associa- tions between genotypes and histopathological subtype, tumor volume, calcification, lobulation, extent of resection, postoperative complications, recurrence, and mortality were analyzed.

Results: The patients included 26 males (55.3%) and 21 females (44.7%), with a mean age of 25.06 ± 17.17 years. The most frequent BRAF rs113488022 genotype was 'TC' (76.6%), followed by 'CC' (14.9%) and 'TT' (8.6%). A sig- nificant difference in genotype distribution was observed between adamantinomatous and papillary craniopharyn- giomas (P=0.024), with the 'CC' genotype being more common in the papillary subtype. No significant associations were found between BRAF rs113488022 genotypes and tumor volume (P=0.93), calcification (P=0.61), lobulation (P=0.34), extent of resection (P=0.47), recurrence (P=0.55), mortality (P=0.13), or postoperative complications in- cluding diabetes insipidus, visual changes, and BMI changes (all P>0.05).

Conclusion: While BRAF rs113488022 genotype distribution differs significantly between histopathological sub- types and serves as a valuable diagnostic marker, it does not independently predict postoperative surgical outcomes, recurrence, or mortality in craniopharyngioma patients. Larger prospective studies are needed to further elucidate the prognostic significance of specific BRAF SNPs

COVID-19 in Children with Cancer: A Retrospective Study

Kolsoum Albooativi — 2026-07-18

Background: The emerging COVID-19 is less common in children than adults and has fewer symptoms. However, there are more concerns about the severity of symptoms in patients’ kids undergoing chemotherapy. This study aimed to investigate COVID-19 infection in pediatric cancer patients.

Methods: This was a retrospective study of 302 patients with COVID-19 infection confirmed by RT-PCR test and aged ≤18, referred to a multi-specialized pediatric hospital, Ahvaz-Iran, from 2020-2021. Children were divided into two groups: malignant (n = 31) and non-malignant (n = 271).

Results: The median age of the patient was 7 years. 73.7 % of the patients were male. The most common symptom was cough (47.36%). On admission, leucopenia was recorded in 63.15% of malignancy patients. The Outcomes death was %0.7 and %3.2 in the malignancy and Controls groups, respectively. There was a statistically significant reduc- tion between the malignancy and Controls group (P=0.02). Also, in terms of myalgia, the group of children with malignancy showed a lower percentage than the control group or non-cancerous children (P=0.04). Laboratory data showed that leukopenia, CRP, and ferritin levels caused by COVID-19 disease in children with malignancy were not significantly different from healthy children (p> 0.05).

Conclusion: COVID-19 mortality in children with malignancy is significantly lower than in non-cancerous chil- dren. Further studies are needed to understand the course of COVID-19 infection in children with cancer.

Parental Knowledge and Attitudes Towards Dental Health Behaviour: A Comparative Study of Oral Hygiene and Nutritional Practices in Children with Heart Conditions Vs. Healthy Children

Masoumeh Khataminia — 2026-07-18

Background: Parents of children with heart disease often fail to recognize the critical importance of maintaining optimal oral health. The attitudes of these parents significantly influence their children's oral care. Their lack of emphasis on proper oral hygiene and a nutritious diet may pose risks for odontogenic bacteremia and infective endocarditis. This study aimed to assess parents’ knowledge of these diseases and their dental knowledge through a questionnaire.

Methods: This descriptive-analytical epidemiological study was carried out with parents of children aged 3 to 16 years, including both normal (n = 69) and heart disease (n = 69) groups, in Ahvaz, Iran, during the August 2022 and June 2023. A researcher-developed questionnaire was employed for data collection. To explore the relationship be- tween knowledge and attitudes, Pearson’s correlation coefficient and regression analysis were applied. The data were analyzed using SPSS software version 24, with a significance threshold set at P < 0.05.

Results: The results of the present study showed that the average score of parents’ knowledges in the control group was 78.27 and in the group of parents of patients with heart disease it was 62.31 and it is at a weak level. The level of attitude among parents of children in both groups is higher than average and the average score of parents' perfor- mance in the control group was 40 and in the group of parents of patients with heart disease it was 37.45, which is at the average level.

Conclusion: The results indicated that parents had limited knowledge about their children's oral health. However, their attitudes towards health and oral hygiene were positive. These findings highlight the necessity of enhancing parental knowledge about effective measures to improve dental health from the early stage of life.