Primary immunodeficiency is a clinically, immunologically and genetically heterogeneous group of diseases that occur as a result of quantitative and/or qualitative deficiency of one or more cellular and molecular components belonging to the immune system. The overall prevalence of PID in the world is stated as 1/2,000-1/10,000 per live birth. In our country, the national PID registration system has just been established. It is estimated that this rate is higher in developing countries such as Turkey, where there is a lot of inbreeding. The clinical appearance of PID is highly variable; however, most often it is characterized by an increased predisposition to infection. Therefore, the disease manifests itself with infections that are "recurrent and difficult to respond to treatment". PID, which mostly starts to give symptoms in childhood, are in the category of rare diseases. For this reason, the probability of receiving a diagnosis in primary and second-line healthcare institutions is very low. Since the course of the disease is poor in a significant part of PID, early diagnosis and timely treatment are very important for reducing mortality, morbidity and economic burden. This is possible with the level of social awareness and the high index of suspicion of medical personnel. For the successful management of the disease, the patient should be quickly referred to a clinical immunologist experienced in immunodeficiencies and further tests should be performed. Fifteen years ago, the Jeffrey Modell Foundation (JMF) identified clinical signs that arouse suspicion of PID in children and adults. This document is a useful basis, but revision is required because it does not take into account the autoimmune, inflammatory or malignant manifestations of PID, which may be the cause of the main clinical presentation in some of the PID. Pulmonary complications are common in PID and contribute significantly to the morbidity and mortality of patients. Recurrent respiratory infections (more than 2 per year for children and within 3 years for adults) are one of the 10 warning signs of PİY recommended by the Jeffrey Modell Foundation and are often the cause of death in adults with PID. Especially in PID, which is characterized by antibody deficiency, frequent recurrent upper and lower respiratory tract infections lead to chronic complications in tissues and organs. Bronchiectasis is the prominent one among these. According to the European Society of Immunodeficiencies, bronchiectasis develops in \~23% of patients with NDI (one-third of all PID patients) . It has been shown that the general state of health, psychosocial well-being level and quality of life are low in patients with PI who have developed chronic lung disease, and it has been found that their daily activities are significantly limited.
This classification, called the International Classification of Functioning, Disability and Health (ICF), was developed in 2000 to create a common language and perspective for the definition of health and health-related conditions. Objectives of the ICF classification:
* To create a scientifically based approach to determine health and health-related conditions
* To facilitate and increase communication between all health professionals and individuals in different professional groups and to ensure the formation of a common language Dec
* To ensure the determination of health-related applications
* Coding health-related factors with a specific system ICF provides the functional status of individuals and the identification of problems that they may encounter in daily life from a biopsychosocial point of view.
ICF-CY evaluates health-related situations with a total of 1685 items in 4 sections. The fact that it has so much substance constitutes a disadvantage in terms of its use. For this reason, with the ICF Core Sets Project study in 2003, disease-specific core sets were created by selecting categories that are specific to diseases and can fully identify the patient. Core sets, just like ICF, treat the patient holistically. Each set has 2 separate forms in the form of short form and long form. There are 5 core sets that can evaluate cardiopulmonary system disorders. Cardiopulmonary disorders, obesity, diabetes mellitus, COPD, chronic ischemic heart problems are the core sets. In a study conducted on 40 pediatric patients with and without cystic fibrosis, it was shown that the ICF model is applicable and useful in evaluating body function and structure disorders such as November muscle weakness, postural anomalies, and limitations in activity and participation in daily life, and in creating a treatment plan. a study conducted on 24 lung transplant patients showed that the ICF model is practical and applicable in the clinic for evaluating activity and participation restrictions such as decreased exercise capacity, body structure and function disorders such as postural disorders, physical activity in daily life, balance disorder, decreased quality of life.
However, there are no studies evaluating the body structure, function, activity and participation of immunodeficiency patients within the scope of ICF. Our study has the feature of being the first study in which immunodeficiency patients were evaluated within the scope of ICF. With this study, the investigators believe that a holistic assessment conducted within the framework of ICF in immunodeficiency patients will have a positive impact on the clinical decision-making process of cardiopulmonary rehabilitation professionals. This study aims; to evaluate the body structure function, activity and participation limitations of adult immunodeficiency patients within the scope of ICF and to compare with healthy people. A second goal is to evaluate the relationships between body structure, function, activity and participation limitations in adult immune deficiency patients.
