Immunology and Genetics Journal https://igj.tums.ac.ir/index.php/igj <p><strong>Immunology and Genetics&nbsp;Journal&nbsp;</strong>is the official journal of the<strong><a href="http://rcid.tums.ac.ir/"> Research Center For Immunodeficiencies</a>, Tehran University of Medical Sciences</strong>.&nbsp;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.</p> <p>The Journal is scientifically supported by <a href="https://usern.tums.ac.ir/">Universal Scientific Education and Research Network (USERN)</a>, and the following centers, associations, groups, and networks:</p> <ul> <li class="show"><a href="https://usern.tums.ac.ir/Group/Info/PIDNet">Primary Immunodeficiency Diseases Network (PIDNet)</a></li> <li class="show"><a href="https://usern.tums.ac.ir/Group/Info/NIIMA">Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA)</a></li> <li class="show"><a href="https://usern.tums.ac.ir/Group/Info/CIP">Cancer Immunology Project (CIP)</a></li> <li class="show"><a href="https://usern.tums.ac.ir/Group/Info/Immuno_TACT">Immunology Board for Transplantation And Cell-based Therapeutics (ImmunoTACT)</a></li> <li class="show"><a href="https://usern.tums.ac.ir/Group/Info/SRMEG">Systematic Review and Meta-analysis Expert Group (SRMEG)</a></li> </ul> <p>&nbsp;</p> en-US igj.journal@gmail.com (Nima Rezaei) journals@tums.ac.ir (TUMS Technical Support) Wed, 12 Mar 2025 00:00:00 +0330 OJS 3.1.1.1 http://blogs.law.harvard.edu/tech/rss 60 Autoimmunity in Inborn Errors of Immunity: A Diagnostic Challenge Beyond Immunodeficiency https://igj.tums.ac.ir/index.php/igj/article/view/204 <p>No Abstract</p> Reza Yazdani ##submission.copyrightStatement## https://igj.tums.ac.ir/index.php/igj/article/view/204 Sat, 15 Mar 2025 08:29:40 +0330 Tumor Markers Involved in Invasion of Pancreatic Cancer https://igj.tums.ac.ir/index.php/igj/article/view/201 <p style="font-weight: 400;">Pancreatic cancer is still one of the most lethal malignancies across the world, and hence exploring new biomarkers related to the progression and invasive nature of this cancer is important to overcome its resistance to various types of treatments through the design of new therapeutic strategies. Several markers have been shown to play a role in pancreatic cancer invasion, but CA19-9, CA125, and noncoding RNAs, including microRNAs, long noncoding RNAs, and circular RNAs, are the most common ones. In the current review, the role of these markers in pancreatic cancer progression, invasion, and metastasis, as well as related mechanisms, has been provided, and their potential to be utilized in pancreatic cancer diagnosis and treatment has been discussed.</p> Fatemeh Tajik, Sara Kamali Zonouzi, Sepideh Razi ##submission.copyrightStatement## https://igj.tums.ac.ir/index.php/igj/article/view/201 Wed, 12 Mar 2025 12:07:06 +0330 National Consensus Guideline on Diagnosis and Management of Chronic Granulomatous Disease https://igj.tums.ac.ir/index.php/igj/article/view/207 <p>Currently, a national consensus or guideline for diagnosing and managing patients suspected of having chronic granulomatous disease (CGD) is lacking. This consensus is written based on a combination of scientific literature and comments from the expert panel of Iranian immunologists. A group of clinical immunologists reviewed the current consensus, presented their comments at a meeting titled “First Meeting on the Diagnosis of Inborn Errors of Immunity (IEI) by IEI Experts” and agreed on this consensus. This consensus guideline provides recommendations on the diagnosis, antimicrobial prophylaxis, management of clinical manifestations, administration of interferon gamma (IFN-γ) and hematopoietic stem cell transplantation (HSCT) for patients with CGD.</p> Samaneh Delavari, Reza Yazdani, Hassan Abolhassani, Fereshte Salami, Parisa Ashournia, Aida Askarisarvestani, Sima Bahrami, Maryam Behfar, Mohammad Hassan Bemanian, Taher Cheraghi, Kian Darabi, Sepideh Darougar, Sarehsadat Ebrahimi, Shabnam Eskandarzadeh, Golnaz Eslamian, Narges Eslami, Shahrzad Fallah, Morteza Fallahpour, Saba Fekrvand, Ali Haghbin, Zohre Hassanpoor, Homa Hatefi Minaei, Mehrnaz Mesdaghi, Tolue Mahdavi, Majid Marjani, Shahla Mirazizi, Mohammadreza Modaresi, Mahshid Movahedi, Mohammamd Nabavi, Mojtaba Ranjbar, Anahita Razaghian, Mohammad Saberi, Mahnaz Sadeghi-Shabestari, Mitra Sahragard, Kiarash Saleki, Sahar Seraj, Seyedehshabnam Seyedsalehi, Alireza Shafiei, Roya Sherkat, Reza Shiari, Sima Shokri, Saman Tavakoli, Ahmad Vosughimotlagh, Nima Rezaei ##submission.copyrightStatement## https://igj.tums.ac.ir/index.php/igj/article/view/207 Sat, 15 Mar 2025 08:25:16 +0330 National Consensus Guideline on Diagnosis and Management of Congenital Neutropenias https://igj.tums.ac.ir/index.php/igj/article/view/208 <p>At present, a national consensus or guideline for diagnosing and managing patients suspected of having severe congenital neutropenia (SCN) is lacking. This consensus is written based on a combination of scientific literature and comments from the expert panel of Iranian immunologists. A group of clinical immunologists reviewed the current consensus, presented their comments at a meeting titled “First Meeting on the Diagnosis of Inborn Errors of Immunity (IEI) by IEI Experts” and agreed on this consensus. This consensus guideline provides recommendations on the diagnosis, antimicrobial prophylaxis, management of clinical manifestations, administration of granulocyte colony-stimulating factor (G-CSF) and hematopoietic stem cell transplantation (HSCT) for patients with SCN.</p> Saba Fekrvand, Reza Yazdani, Samaneh Abdolahzade, Parisa Ashournia, Aida Askarisarvestani, Sima Bahrami, Maryam Behfar, Zahra Daneshmandi, Taher Cheraghi, Sepideh Darougar, Sarehsadat Ebrahimi, Shabnam Eskandarzadeh, Narges Eslami, Golnaz Eslamian, Shahrzad Fallah, Ali Haghbin, Mehrnaz Mesdaghi, Majid Marjani, Mohammadreza Modaresi, Mahshid Movahedi, Mohammamd Nabavi, Anahita Razaghian, Mahnaz Sadeghi-Shabestari, Sahar Seraj, Seyedehshabnam Seyedsalehi, Alireza Shafiei, Reza Shiari, Sima Shokri, Saman Tavakoli, Ahmad Vosughimotlagh, Vahid Ziaee, Nima Rezaei ##submission.copyrightStatement## https://igj.tums.ac.ir/index.php/igj/article/view/208 Sat, 15 Mar 2025 09:32:09 +0330 Regional Distribution of Ataxia-Telangiectasia Cases in Iran https://igj.tums.ac.ir/index.php/igj/article/view/205 <p><strong>Background:</strong> Ataxia-telangiectasia (AT) is a rare, autosomal recessive neurodegenerative disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, recurrent infections, radiosensitivity, and an increased risk of malignancies. This study aimed to evaluate the distribution of A-T patients, parenteral consanguinity status, and diagnostic delays in different provinces of Iran.</p> <p><strong>Methods:</strong> A retrospective observational and analytical study in which all A-T patients with a recorded place of birth or residency were included. A questionnaire was designed and filled out for each patient to extract data including date of birth, gender, parental consanguinity status, family history, age of disease onset, and age of disease diagnosis. </p> <p><strong>Results:</strong> A total of 203 A-T patients (104 males and 99 females) were included in the study. Out of a total of 31 provinces, A-T patients were diagnosed and reported in 25 different provinces, while six provinces had no registered A-T patients. Tehran province, the most densely populated province in Iran, reported the predominant number and frequency of cases (52 patients or 25.6%), followed by Khouzestan (16 cases, 7.9%), Alborz (12 cases, 5.9%) and Isfahan (12 cases, 5.9%) provinces. No statistically significant relationship was found regarding family history status. Hamedan followed by Sistan and Baluchestan, and Yazd provinces had the highest delay in diagnosis. </p> <p><strong>Conclusion:</strong> Our study showed that A-T is distributed in most provinces of Iran. We found a considerably high diagnostic delay among A-T patients in Iran, especially in resource-limited provinces, including Hamedan followed by Sistan and Baluchestan, and Yazd.</p> Pouya Vakilipour, Ayda Firouzabadi, Nima Rezaei, Reza Yazdani ##submission.copyrightStatement## https://igj.tums.ac.ir/index.php/igj/article/view/205 Sat, 15 Mar 2025 08:28:46 +0330 Congenital Cardiac Defects in G6PC3 Deficiency: Report of a Mutation and a Literature Review https://igj.tums.ac.ir/index.php/igj/article/view/206 <p><strong>Background:</strong> Congenital cardiac anomalies are considered the most frequent non-hematologic manifestation of Glucose-6-phosphatase 3 (G6PC3) deficiency. </p> <p><strong>Methods:</strong> We report a case of G6PC3-deficiency with a novel homozygous frameshift variant (c.911dupC; p.Gln305SerfsTer82), who developed intermittent neutropenia and was diagnosed long after a repair cardiac surgery for patent ductus arteriosus (PDA). To further investigate the importance of immunologic workups in patients with congenital cardiac defects, we provide a literature review on the observed cardiac findings in patients with SCN4. </p> <p><strong>Results:</strong> Overall, 78.3% of reported patients had cardiac defects, with more than half of the patients (56%) presenting with ASD. More than half of the patients with ASD required surgical repair, which implies the severity of symptoms. </p> <p><strong>Conclusion:</strong> These findings highlight the importance of performing immunologic work-ups in children initially manifesting congenital heart defects. A simple differential cell-blood-count test may prevent future life-threatening disseminated infections, especially in countries with high rates of consanguinity and, subsequently, higher prevalence of primary immunodeficiencies.</p> Mahsima Shabani, Elham Rayzan, Ido Somekh, Christoph Klein, Nima Rezaei ##submission.copyrightStatement## https://igj.tums.ac.ir/index.php/igj/article/view/206 Sat, 15 Mar 2025 08:32:58 +0330 De novo CXCR4 Mutation in WHIM Syndrome: Report of a 4-year-old Case Without Wart and Myelokathexis https://igj.tums.ac.ir/index.php/igj/article/view/168 <p><strong>Background</strong>: WHIM syndrome ( Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome), a type of severe congenital neutropenia (SCN), involves Warts, Hypogammaglobulinemia, Infections, and Myelokathexis as its main components of clinical presentation, which results from mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene.</p> <p><strong>Objective</strong>: Here, we present an Iranian 4-year-old girl with severe congenital neutropenia without warts and normal bone marrow examination, lacking evidence of myelokathexis.</p> <p><strong>Methods</strong>: Whole Exome Sequencing (WES) was performed for the patient. Subsequently, Sanger segregation/validation was done of the patient and her parents.</p> <p><strong>Results</strong>: Whole exam sequencing identified a heterozygous stop variant mutation in CXCR4 (NM_001008540.2:c.1012C&gt;T;&nbsp; p.Arg338Ter) in the patient.</p> <p><strong>Conclusion</strong>: Two of the main clinical criteria in WHIM syndrome, including warts and myelokathexis, were not observed in our patient. So, the absence of warts is not deceptive in ruling out the disease. This case report also represents the high importance of genetic analysis as a primary tool for the accurate differential diagnosis of patients with neutropenia.</p> Shayan Roshdi, Sepideh Shahkarami, Samaneh Zoghi, Elham Rayzan, Rasol Molatefi, Meino Rohlfs, Christoph Klein, Nima Rezaei ##submission.copyrightStatement## https://igj.tums.ac.ir/index.php/igj/article/view/168 Wed, 12 Mar 2025 12:04:42 +0330