Immunology and Genetics Journal https://publish.kne-publishing.com/index.php/IGJ <p><strong data-stringify-type="bold">All the manuscripts should be submitted through the Journal Primary Website at&nbsp; <a href="https://igj.tums.ac.ir/index.php/igj/about/submissions">https://igj.tums.ac.ir/index.php/igj/about/submissions</a></strong></p> en-US n.gavili@knowledgee.com (Knowledge E) Mon, 17 Mar 2025 08:04:48 +0000 OJS 3.1.2.0 http://blogs.law.harvard.edu/tech/rss 60 Autoimmunity in Inborn Errors of Immunity: A Diagnostic Challenge Beyond Immunodeficiency https://publish.kne-publishing.com/index.php/IGJ/article/view/18169 <div id="message-list_1667106617.716519" class="c-virtual_list__item" tabindex="0" role="listitem" aria-setsize="-1" data-qa="virtual-list-item" data-item-key="1667106617.716519"> <div class="c-message_kit__background p-message_pane_message__message c-message_kit__message" role="presentation" data-qa="message_container" data-qa-unprocessed="false" data-qa-placeholder="false"> <div class="c-message_kit__hover" role="document" aria-roledescription="message" data-qa-hover="true"> <div class="c-message_kit__actions c-message_kit__actions--above"> <div class="c-message_kit__gutter"> <div class="c-message_kit__gutter__right" role="presentation" data-qa="message_content"> <div class="c-message_kit__blocks c-message_kit__blocks--rich_text"> <div class="c-message__message_blocks c-message__message_blocks--rich_text" data-qa="message-text"> <div class="p-block_kit_renderer" data-qa="block-kit-renderer"> <div class="p-block_kit_renderer__block_wrapper p-block_kit_renderer__block_wrapper--first"> <div class="p-rich_text_block" dir="auto"> <div class="p-rich_text_section">The Article Abstract is not available.</div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div id="message-list_1669062600000divider" class="c-virtual_list__item" tabindex="-1" role="presentation" aria-setsize="-1" data-qa="virtual-list-item" data-item-key="1669062600000divider"> <div class="c-message_list__day_divider" data-stringify-ignore="true">&nbsp;</div> </div> Reza Yazdani Copyright (c) 2025 Immunology and Genetics Journal https://publish.kne-publishing.com/index.php/IGJ/article/view/18169 Sat, 15 Mar 2025 05:19:17 +0000 National Consensus Guideline on Diagnosis and Management of Chronic Granulomatous Disease https://publish.kne-publishing.com/index.php/IGJ/article/view/18170 <div class="page" title="Page 2"> <div class="section"> <div class="layoutArea"> <div class="column"> <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 scien- tific literature and comments from the expert panel of Iranian immunologists. A group of clinical immunol- ogists 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> </div> </div> </div> </div> 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 EbrahimiEbrahimi, Shabnam Eskandarzadeh, Golnaz Eslamian, Narges Eslami, Shahrzad Fallah, Morteza Fallahpour, Saba Fekrvand, Ali Haghbin, Zohre Hassanpoor, Tolue Mahdavi, Homa Hatefi Minaei, 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 Copyright (c) 2025 Immunology and Genetics Journal https://publish.kne-publishing.com/index.php/IGJ/article/view/18170 Sun, 16 Mar 2025 11:08:10 +0000 National Consensus Guideline on Diagnosis and Management of Congenital Neutropenias https://publish.kne-publishing.com/index.php/IGJ/article/view/18171 <div class="page" title="Page 2"> <div class="section"> <div class="layoutArea"> <div class="column"> <p>At present, a national consensus or guideline for diagnosing and managing patients suspected of having se- vere 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 immunolo- gists 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> </div> </div> </div> </div> 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 Copyright (c) 2025 Immunology and Genetics Journal https://publish.kne-publishing.com/index.php/IGJ/article/view/18171 Sun, 16 Mar 2025 12:55:20 +0000 Tumor Markers Involved in Invasion of Pancreatic Cancer https://publish.kne-publishing.com/index.php/IGJ/article/view/18208 <div class="page" title="Page 1"> <div class="section"> <div class="layoutArea"> <div class="column"> <p>Pancreatic cancer is still one of the most lethal malignancies across the world, and hence exploring new bio- markers 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 mech- anisms, has been provided, and their potential to be utilized in pancreatic cancer diagnosis and treatment has been discussed.</p> </div> </div> </div> </div> Fatemeh Tajik, Sara Kamali Zonouzi, Sepideh Razi Copyright (c) 2025 Immunology and Genetics Journal https://publish.kne-publishing.com/index.php/IGJ/article/view/18208 Sun, 16 Mar 2025 12:58:05 +0000 Regional Distribution of Ataxia-Telangiectasia Cases in Iran https://publish.kne-publishing.com/index.php/IGJ/article/view/18209 <div class="page" title="Page 1"> <div class="section"> <div class="layoutArea"> <div class="column"> <p><strong>Background:</strong> Ataxia-telangiectasia (AT) is a rare, autosomal recessive neurodegenerative disease charac- terized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, recurrent infec- tions, 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 pre- dominant 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 considera- bly high diagnostic delay among A-T patients in Iran, especially in resource-limited provinces, including Hamedan followed by Sistan and Baluchestan, and Yazd.</p> <p>&nbsp;</p> </div> </div> </div> </div> Pouya Vakilipour, Ayda Firouzabadi, Nima Rezaei, Reza Yazdani Copyright (c) 2025 Immunology and Genetics Journal https://publish.kne-publishing.com/index.php/IGJ/article/view/18209 Sun, 16 Mar 2025 13:01:31 +0000 Congenital Cardiac Defects in G6PC3 Deficiency: Report of a Mutation and a Literature Review https://publish.kne-publishing.com/index.php/IGJ/article/view/18211 <div class="page" title="Page 1"> <div class="section"> <div class="layoutArea"> <div class="column"> <p>Congenital cardiac anomalies are considered the most frequent non-hematologic manifestation of Glucose- 6-phosphatase 3 (G6PC3) deficiency. 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. 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. 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> </div> </div> </div> </div> Mahsima Shabani, Elham Rayzan, Ido Somekh, Christoph Klein, Nima Rezaei Copyright (c) 2025 Immunology and Genetics Journal https://publish.kne-publishing.com/index.php/IGJ/article/view/18211 Sun, 16 Mar 2025 13:07:46 +0000 De novo CXCR4 Mutation in WHIM Syndrome: Report of a 4-year- old Case Without Wart and Myelokathexis https://publish.kne-publishing.com/index.php/IGJ/article/view/18212 <div class="page" title="Page 1"> <div class="section"> <div class="layoutArea"> <div class="column"> <p>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>Here, we present an Iranian 4-year-old girl with severe congenital neutropenia without warts and normal bone marrow examination, lacking evidence of myelokathexis. Whole Exome Sequencing (WES) was performed for the patient. Subsequently, Sanger segregation/validation was done of the patient and her parents. Whole exam sequencing identified a heterozygous stop variant mutation in CXCR4 (NM_001008540.2:c.1012C&gt;T; p.Arg338Ter) in the patient. 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> </div> </div> </div> </div> Shayan Roshdi, Sepideh Shahkarami, Samaneh Zoghi, Elham Rayzan, Rasol Molatefi, Meino Rohlf, Christoph Klein, Nima Rezaei Copyright (c) 2025 Immunology and Genetics Journal https://publish.kne-publishing.com/index.php/IGJ/article/view/18212 Sun, 16 Mar 2025 13:13:18 +0000