Search

Purpose Major histocompatibility complex (MHC) class II deficiency is one of the combined immune deficiency disorders caused by defects in the MHC class II regulatory genes leading to abnormal T cells development and function. Therefore, patients mainly present with increased susceptibility to infections, diarrhea, and failure to thrive. In this report, we present one MHC class II deficient patient with a novel presentation with Hemophagocytic Lymphohistiocytosis (HLH). Methods Immunophenotyping of lymphocyte subpopulations and HLA-DR expression was assess by flow cytometry. Gene mutational analysis was performed by whole exome and Sanger sequencing. Results We reported a 7-year-old girl, who was diagnosed at age of 2 years with MHC class II deficiency by genetic testing and flow cytometry. Two years later, she developed disseminated BCGitis which was treated with proper antimicrobial agents. At the age of 7 years, she presented with clinical features fulfilling 6 diagnostic criteria of HLH including evidence of hemophagocytic activity in bone marrow aspiration. Accordingly, the diagnosis of HLH was established and the patient was started on IV Dexamethasone, Anakinra and IVIG. Eventually, patient started to improve and was discharged in good condition. Few months later, the patient was readmitted with severe pneumonia and sepsis leading to death. Conclusion Patients with MHC class II deficiency might present with disseminated BCGitis especially if the patient has severe T cell lymphopenia. Additionally, this immune defect might be added to the list of inborn errors of immunity that can be complicated with HLH. [ABSTRACT FROM AUTHOR]

Background: Inborn Errors of Immunity (IEI) include a vast array of immunity disorders that are diagnosed early in life and that are associated with a high disease burden. Studies on the burden of IEI on the quality of life in Saudi Arabia are scarce. The aim of this study was to assess quality of life of IEI patients at a major tertiary care hospital in Riyadh, Saudi Arabia. Methods: This is a cross-sectional survey-based study of all IEI patients using the validated PedsQL, version 4 questionnaire that aims at assessing the quality of life of IEI patients as reported by patients or one of their parents. Data was analyzed using the Statistical Package for Social Sciences (SPSS) version 26. Results: The study included 51 IEI patients, more than half of which were between 2-12 years of age (63%). Data was mostly collected from one of the parents (84%). The lowest score was reported for school functioning with a mean score of 72.7 (SD=31.4). Emotional functioning score were significantly lower among those older than 18 years and those between 6-12 years old (P=0.04). Residing in the capital, was also significantly associated with higher physical functioning and total scores (P=0.01 and 0.03 respectively). Furthermore, social score was significantly higher among those with an unemployed parent (P=0.03). Conclusion: This study showed IEI patients suffer from a low quality of life score that influences both school and emotional functioning. Quality of life scores were significantly associated with parent's employment status and patients' age. Living in proximity to healthcare centers, was associated with higher physical functioning and total scores. Healthcare providers managing IEI patients in Saudi Arabia should evaluate their quality of life to ensure optimal school and emotional wellbeing of the child. [ABSTRACT FROM AUTHOR]