Performance status and deaths among children registered in Kuwait National Primary ImmunoDeficiency Disorders Registry

Children with primary immunodeficiency disorders (PIDD) have an increased risk of suffering from physical, social, and psychological problems. The aim of this study was to evaluate the performance status and mortality of children with PIDD in Kuwait and to determine the variables and co-morbidities that may affect their performance and risk of death. The data for the children were obtained from Kuwait National Primary Immunodeficiency Disorders Registry describes the patients' characteristics, comorbidities and their treatment regimens. Each patient was scored using the Lansky Play Performance Scale (LPPS), and we evaluated the number of deaths among the children and the effects of different variables on their LPPS scores and mortality. We examined 98 pediatric patients with a mean delay in diagnosis of 21.2 months. Antimicrobial prophylaxis was administered to 57.2% of the patients, whereas intravenous immunoglobulin (IVIG) therapy was used in 44%. Eight patients underwent bone marrow transplants. The mean LPPS score for all the patients was 65.5, and there was a significant disparity in the mean LPPS scores across PIDD categories. Twenty-one patients died. The variables that were found to have a significant effect on both the LPPS score and the risk of death were an age of onset of less than 6 months, a history of CMV infection, parental consanguinity, the use of antimicrobial prophylaxis and IVIG therapy. In conclusion, patients with PIDD have a poor performance status and a high rate of mortality. Early diagnosis and aggressive therapeutic interventions directed at patients with early onset of symptoms and CMV infections can help improve the quality of life of patients with PIDD.     

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype

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Exercise therapy for patients with diffuse idiopathic skeletal hyperostosis

We evaluated the effect of exercise therapy on back pain, spinal range of motion (ROM), and disability in persons with diffuse idiopathic skeletal hyperostosis (DISH). Persons with symptomatic DISH received a daily exercise program for 24 weeks consisting of mobility, stretching, and strengthening exercises for the cervical, thoracic, and lumbar spine. It included 14 supervised sessions over 8 weeks. Outcomes included visual analogue scales (VAS) for pain, stiffness, and fatigue, 13 spinal measurements, the neck pain and disability scale, the Quebec back pain disability scale, the Bath Spondylitis Functional Index, and the MACTAR patient preference scale. Assessments were made at baseline, 8 weeks, and 24 weeks. Fifteen of 17 completed the study. Comparing week 24 with baseline, Schober’s test improved significantly (p = 0.02), and VAS stiffness and left finger-to-floor test demonstrated a trend to improvement (p = 0.07 each). The physical measures, which were expected to improve with the exercise program, all moved in the direction expected, but had p values > 0.10. At 24 weeks, eight (53.3%) participants rated their status as improved, three (20%) as unchanged, and four (27%) were unsure about the benefit. The exercise program designed for DISH and tested in this study led to small improvements in physical measures which achieved significance only for lumbosacral flexion.     

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. We herein propose the revised 2017 phenotypic classification, based on the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification.