Tehran University Medical Journal

Primary immunodeficiency diseases (PIDs) is a diverse group of diseases, characterized by a defect in the immune system. These patients are susceptible to recurrent respiratory infections, gastrointestinal problems, autoimmune diseases, and malignancies. In most cases, patients with primary immunodeficiency disorders have genetic defects and are monogenic disorders that follow a simple Mendelian inheritance, however, some PIDs recognize a more complex polygenic origin. Overall, almost 70 to 90 percent of patients with primary immunodeficiency are undiagnosed. Given that these patients are exposing to respiratory infectious agents and some live-attenuated vaccines, thus they have a high risk to some clinical complications. The administration of oral polio vaccine in patients with PIDs especially can increase the possibility of acute flaccid paralysis. These patients will excrete the poliovirus for a long time through their feces, even though they are not paralyzed. Long-term virus proliferation in the vaccinated individuals causes a mutation in the poliovirus and creates a vaccine-derived polioviruses (VDPVs), which is a major challenge to the final stages of the worldwide eradication of polio. 
To increase the diagnosis and identification of patients with immunodeficiency and carrying out a national plan for screening patients with immunodeficiency from the fecal excretion of the poliovirus, a possible polio epidemic can be prevented during post-eradication. Development of laboratory facilities in provincial and city centers, improvement of communications among physicians regarding medical consultation and establishment of referring systems for patients by national network lead to improve status of diagnosis and treatment of patients with primary immunodefiicencies. In this context, launching and activating the national network of immunodeficiency diseases is essential for improving the health of children and reducing the cost of the health system of the country. A national network of immunodeficiency can lead to increase awareness of physicians regarding primary immunodeficiency disorders, improve collaboration among physicians about genetic consultation and establish a practical referral system in Iran that results in increased diagnosis and improve treatment of patients with primary immunodeficiency disorders.

Primary Immune Deficiencies are a group of heterogeneous disorders that involve the innate or acquired immune system, or a combination of them. The underlying disorder may be related to decreased levels or function, or a complete lack of one or more components of the immune system in general. These diseases can occur with a prevalence of about 1 in 10000 live births. According to the fourth update on the Iranian national registry of Primary Immune Deficiency in October 2018, the total number of registered PIDs in Iran are 3056 patients. However, it is supposed to be more prevalent and it seems increasing awareness shall reveal many new cases, especially in societies with prevalent consanguineous marriages like Iran. These disorders predispose patients to recurrent infections, autoimmunity and malignancy and can cause a huge burden on health care systems. This group of diseases has a wide range of symptoms, which quick recognition and timely treatment of them, can greatly reduce the complications of the disease. These symptoms may include recurrent or severe infections, failure to thrive, autoimmune disorders, as well as articular-skeletal manifestations. A variety of skeletal manifestations are seen in patients with primary immunodeficiency, among which septic arthritis caused by pyogenic bacteria or mycoplasma arthritis is the most common joint-bone manifestation. Joint and skeletal involvement is less commonly seen as a sign of primary immune defects. This issue is importance in reducing the cost of diseases and improving the patients’ quality of life. Our review attempted to introduce the most common manifestations of bone and joint in patients with primary immunodeficiency and available treatments for these manifestations. Because of the wide range of symptoms in these patients, it is recommended to observe the rare and suspicious manifestations in the patients with any atypical bone and joint presentations such as: recurrent septic arthritis, infection with unusual germs, immunodeficiency in their relatives, and any history of well-known red flags of PIDs. The Rheumatologist should consider these manifestations and think about the possibility of deficiency disorder.