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Abstract Presenting processed antigens to CD4+ lymphocytes during the immune response involves major histocompatibility complex class II molecules. MHC class II genes transcription is regulated by four transcription factors: CIITA, RFXANK, RFX5 and RFXAP. Defects in these factors result in major histocompatibility complex class II expression deficiency, a primary combined immunodeficiency frequent in North Africa. Autosomal recessive mutations in the RFXANK gene have been reported as being the principal defect found in North African patients with this disorder. In this paper, we describe clinical, immunological and genetic features of 11 unrelated Algerian patients whose monocytes display a total absence of MHC class II molecules. They shared mainly the same clinical picture which included protracted diarrhoea and respiratory tract recurrent infections. Genetic analysis revealed that 9 of the 11 patients had the same RFXANK founder mutation, a 26 bp deletion (named I5E6-25_I5E6+1, also known as 752delG26). Immunological and genetic findings in our series may facilitate genetic counselling implementation for Algerian consanguineous families. Further studies need to be conducted to determine 752delG26 heterozygous mutation frequency in Algerian population.

The role of gastro-esophageal reflux disease (GERD) in poorly controlled asthma is often mentioned, but published studies have presented discordant results. Our main objective was to assess the effectiveness of GERD treatment in controlling asthma in children. We conducted a prospective study including poorly controlled asthmatic children aged 4 to 16 years. We checked the presence of acid reflux using pH monitoring. Patients with GERD were randomized into two groups; one received omeprazole for 6 months and the control group was not treated. The outcome was the score of the children asthma control test at the end of 6 months. The acid suppression was checked at the end of treatment with pH monitoring. After treatment, children with persistent acid reflux received high PPI doses and therefore were reevaluated 6 months later. We included 102 children with poorly controlled asthma among which 59 (57.8%) had acid reflux. Gastroesophageal reflux (GER) was significantly more common in boys (p = 0.04). Treatment with omeprazole in sufficient doses improved the control of asthma in 5 children out of 6 (84.8 vs 11.5; p<.0001). Three factors appeared to be statistically associated with asthma control improvement after PPI therapy: male sex (p=.04), normal birth weight (p=.05) and a positive Prick-test (p=.05). These factors were not confirmed or were not sufficiently precise in multivariate analysis. The likelihood of a causal relationship between acid reflux and asthma, difficult to highlight with pH monitoring, was poor. This study confirmed the high prevalence of GER in poorly controlled asthmatic children and showed the possible benefit of an efficient GER treatment in improving asthma control. [ABSTRACT FROM AUTHOR]

Purpose: In this study, we retrospectively reviewed the use of flow cytometry (FCM) in the diagnosis of inborn errors of immunity (IEIs) at a single center in Algeria. Sharing insights into our practical experience, we present FCM based diagnostic approaches adapted to different clinical scenarios., Methods: Between May 2017 and February 2024, pediatric and adult patients presenting with clinical features suggestive of immunodeficiency were subjected to FCM evaluation, including lymphocyte subset analysis, detection of specific surface or intracellular proteins, and functional analysis of immune cells., Results: Over a nearly seven-year period, our laboratory diagnosed a total of 670 patients (372 (55.5%) males and 298 (44.5%) females), distributed into 70 different IEIs belonging to 9 different categories of the International Union of Immunological Societies classification. FCM was used to diagnose and categorize IEI in 514 patients (76.7%). It provided direct diagnostic insights for IEIs such as severe combined immunodeficiency, Omenn syndrome, MHC class II deficiency, familial hemophagocytic lymphohistiocytosis, and CD55 deficiency. For certain IEIs, including hyper-IgE syndrome, STAT1-gain of function, autoimmune lymphoproliferative syndrome, and activated PI3K delta syndrome, FCM offered suggestive evidence, necessitating subsequent genetic testing for confirmation. Protein expression and functional assays played a crucial role in establishing definitive diagnoses for various disorders. To setup such diagnostic assays at high and reproducible quality, high level of expertise is required; in house reference values need to be determined and the parallel testing of healthy controls is highly recommended., Conclusion: Flow cytometry has emerged as a highly valuable and cost-effective tool for diagnosing and studying most IEIs, particularly in low-income countries where access to genetic testing can be limited. FCM analysis could provide direct diagnostic insights for most common IEIs, offer clues to the underlying genetic defects, and/or aid in narrowing the list of putative genes to be analyzed., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2024 Tahiat, Belbouab, Yagoubi, Hakem, Fernini, Keddari, Belhadj, Touri, Aggoune, Stoddard, Niemela, Zerifi, Melzi, Aboura, Saad-Djaballah, Ferhani, Ketfi, Messaoudi, Bencharif Madani, Benhacine, Dehimi, Okka, Amroune, Fellahi, Bendahmane, Khoulani, Oukil, Soufane, Bourelaf, Boubidi, Boukhenfouf, Amine Ifri, Khelafi, Boudiaf, Khelifi Touhami, Meçabih, Boucelma, Zelaci, Gacem, Ladj, Mekki, Bensaadi, Benhalima, Zeroual, Bioud, Benameur, Bouhdjila, Bouzerar, Ibsaine, Maouche, Kedji, Smati, Boukari, Lambert, Rosenzweig, Notarangelo and Djenouhat.)

Objectives: To assess factors associated with prehypertension and hypertension among children in North Africa., Methods: An epidemiological observational, school- and college-based study among 3562 healthy children and adolescents to assess factors associated with blood pressure categories (normal, prehypertensive, hypertensive), including perinatal (gestational age, birth weight, breastfeeding) and current lifestyle characteristics (body mass index, time spent watching a screen and time spent exercising)., Results: Prevalence of hypertension increased with age from 8.7% between 6-10 years to 14.7% between 11-15 years, and 15.6% above 15 years. Prevalence of prehypertension and hypertension increased with body mass index from 9.9% and 11.5% among children not overweight to 15.6% (RR 1.58, 95% CI 1.24-2.02, P<0.001) and 17.2% (RR 1.50, 95% CI 1.22-1.85, P<0.001) among those overweight and to 26.8% (RR 2.72, 95% CI 2.04-3.64, P<0.01) and 32.3% (RR 2.82, 95% CI 2.27-3.50, P<0.01) among obese children. There was a trend of association of prehypertension with the time spent watching Television, internet and electronic games. Children whose mother or father had a history of hypertension had a trend to be prehypertensive or hypertensive. A parental hypertension was found in 33.6% of normotensive, 38.2% of prehypertensive, and 42.6% of hypertensive children (P=0.05). Children with prehypertension or hypertension were more likely to have a diabetic father or mother (22.8% and 22.6% vs 15.8%, respectively, P=0.01). Also, prehypertension and hypertension were associated with shorter gestational age, early birth, reduced birth weight, and shorter breastfeeding., Conclusion: Prehypertension and hypertension have a high prevalence among children in North Africa. They are associated with overweight, obesity, diabetes, a shorter gestational age, a lower birth weight and a shorter breastfeeding., Competing Interests: None., (AJCD Copyright © 2021.)