Primary immunodeficiencies are rare inherited disorders that disrupt the immune system's ability to combat infections and other illnesses. Dr. Fazlollahi explained that over 450 types of these diseases have been identified to date, with symptoms appearing at any age—from infancy through adulthood. Recurrent infections are a common symptom of these conditions; however, in certain instances, patients may also exhibit non-infectious indications such as cancer, autoimmune and chronic inflammatory diseases, or severe eczema.

Dr. Fazlollahi emphasized the significance of early and accurate diagnosis for primary immunodeficiency diseases due to potentially severe consequences if left untreated or treated inadequately. He noted that IAARI actively participates in the annual World Primary Immunodeficiency Week campaign, an initiative aimed at increasing awareness among the general public and healthcare professionals about the diagnosis, treatment options, and post-treatment care of these diseases.

Treatment strategies for these conditions vary depending on the type of specific disorder and its severity level. Some common therapeutic approaches include immunoglobulin infusion, gamma interferon administration, and medication such as GCSF antibiotics or antifungal drugs. High-risk cases may necessitate more specialized interventions such as stem cell transplantation or gene therapy.

How IAARI Helps Patients with Rare Immune Disorders: An Interview with Dr. Fazlollahi

https://iaari.tums.ac.ir/ZV52o

In an interview with Dr. Mohammadreza Fazlollahi, the deputy of the center, he explains how IAARI provides various services for these patients, such as specialized laboratory tests, genetic counseling, stem cell transplantation, supportive care, and international collaboration.

He says that the center has been following up with primary immunodeficiency patients since its establishment more than 20 years ago. The patients are visited by immunology specialists in the center’s clinics and are recorded in patient registries. They undergo various laboratory tests, including immunological and genetic tests, which are performed in the center’s laboratories. Based on the final diagnosis, they receive different treatments, such as immunoglobulin replacement therapy, prophylactic antibiotics, immunomodulators, and stem cell transplantation.

He adds that the center has taken a step further and provides genetic and clinical counseling before birth for families who have a child with primary immunodeficiency and want to have another child. If the genetic diagnosis of the disease is confirmed for them, they can be aware of the definitive diagnosis of the fetus during pregnancy. The center has also started neonatal screening for primary immunodeficiency diseases by developing a diagnostic kit called TREC and KREC, which can detect severe combined immunodeficiency (SCID) and other diseases.

He also discusses the importance of early detection and screening of primary immunodeficiency diseases, especially hereditary angioedema. Hereditary angioedema is a hereditary deficiency of the complement system, which causes swelling attacks in the head and neck or sometimes in the larynx and can be lethal. The center has been pursuing the import of a specific drug for these patients with the help of relevant authorities, several companies, and the Food and Drug Administration of the Ministry of Health. The drug has been imported in recent years and has helped to control symptoms and prevent severe attacks and even death. The center has also established a registry system for these patients for better care and follow-up. It has also established international relations with the International Hereditary Angioedema Organization (HAEi).

He highlights the educational and research achievements of the center, which has published more than 100 papers on primary immunodeficiency diseases. It also tries to enhance the knowledge of colleagues at general and specialized levels by holding seminars, scientific meetings, and national or international conferences. It also publishes educational brochures, pamphlets, and books for families with simple explanations. In addition, it benefits from international cooperation in research, diagnosis, and treatment of primary immunodeficiency diseases. It participates in joint international projects and virtual consultation sessions with experts from other countries.

He concludes by thanking all the staff of the center, including the head of the center, for their efforts and dedication to improving the quality of life of primary immunodeficiency patients.