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Summary: Background. Inborn errors of immunity (IEIs) are a group of heterogeneous disorders with inherited faults in the immune system that increase susceptibility to infections, malignancies, lymphoproliferation, and autoimmune/autoinflammatory disorders. Methods. We retrospectively studied the demographic characteristics, clinical features, and immunological profiles of the 90 IEIs patients, who were diagnosed and classified according to the European Society for Immunodeficiencies (ESID) and International Union of Immunological Societies (IUIS) criteria from July 2010 to June 2021. The study was carried out in the Non-communicable Diseases Research Center, Imam Ali Hospital, Alborz, Iran. Results. Within a period of 11 years, 53 (58.9%) males and 37 (41.1%) females were diagnosed and followed up for 20 IEI disorders. The median (IQR) age of onset, age of clinical diagnosis and diagnostic delay was 0.7 (0.08-2.0), 3.18 (1.0-8.0) and 1.5 (0.17-5.0) years, respectively. Twelve patients (36.4%) had a positive family history of IEI, and the majority of patients (84.5%) had recurrent infections. Pneumonia (51.7%) was the most common clinical manifestation among IEI patients, followed by skin complications (46.2%). The most frequently diagnosed IEI was immunoglobulin A deficiency (IgAD) (14.4%) and severe combined immunodeficiency (SCID) (11.1%). Predominantly antibody deficiencies group (36.7%) was the most common category, followed by combined immunodeficiencies with associated or syndromic features group (27.8%). Conclusions. IEIs have different patterns within populations with high consanguinity. There is a need to search for underlying genetic and epigenetic factors in most common IEIs in Alborz.

Background: Asthma is the most common, chronic, childhood disease. Its chronic nature and long-term treatment decrease the quality of life of children and significantly affect the family function. This study was conducted to assess the impact of family empowerment on the quality of life of school-aged children with asthma., Materials and Methods: This was a quasi-experimental study. Forty-five asthmatic children (7-11 years) and their parents referred to the Pediatric Asthma Clinic in Masih Daneshvari Hospital were selected using convenience sampling and were randomly divided into case (n = 14) and control (n = 16) groups. Data collection tools included a demographic information questionnaire and Pediatric Asthma Quality of Life Questionnaire with standardized activities (PAQLQ). The validity and reliability of the questionnaire were tested. The family empowerment program for the intervention group included lectures, group discussions and demonstration of educational films. The questionnaires were filled out pre- and post-test., Results: There were no significant differences before the intervention between the test and control groups in terms of demographic characteristics and PAQLQ scores. While, independent t-test showed significant differences between the two groups in PAQLQ total score and the subscale scores before and after the intervention (P < 0.05). Paired t-test showed significant differences before and after the intervention in the case group in terms of PAQLQ total score and the subscale scores (P < 0.001)., Conclusion: Considering the positive impact of of family empowerment program on the quality of life of school-aged children with asthma, this program is recommended for proper control and management of disease and decreasing the complications in asthmatic patients of all age groups.