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We develop a study on laser cutting of metals with assist gas jet, the aim is to investigate the effect of the beam shape spatial distribution when a top-hat or a Gaussian beam distributions are considered. A three-dimensional (3-D) numerical model is developed for assumed normal atmospheric conditions, where the treated metallic sample is subjected to irradiation with a continuous wave (CW) Nd:YAG laser beam. The finite volume method (FVM) is used to discretize the differential governing conservation equations, which are numerically solved. The solid-air and liquid-air interfaces are tracked by implementation of the volume of fluid (VOF) method, whereas an enthalpy approach allows to take into account the melting and re-solidification phenomena. The cut formation is simulated by inserting the related laser deposited energy, for the considered beam distribution, as a volumetric source term in the energy conservation equation, the results show that the used beam distribution may play an important role in reducing the striation formation. [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.)

Background: Inborn errors of immunity (IEI) predispose patients to various infectious and non-infectious complications. Thanks to the development and expanding use of flow cytometry and increased awareness, the diagnostic rate of IEI has markedly increased in Algeria the last decade., Aim: This study aimed to describe a large cohort of Algerian patients with probable IEI and to determine their clinical characteristics and outcomes., Methods: We collected and analyzed retrospectively the demographic data, clinical manifestations, immunologic, genetic data, and outcome of Algerian IEI patients - diagnosed in the department of medical immunology of Beni Messous university hospital center, Algiers, from 2008 to 2021., Results: Eight hundred and seven patients with IEI (482 males and 325 females) were enrolled, 9.7% of whom were adults. Consanguinity was reported in 50.3% of the cases and a positive family history in 32.34%. The medium age at disease onset was 8 months and at diagnosis was 36 months. The median delay in diagnosis was 16 months. Combined immunodeficiencies were the most frequent (33.8%), followed by antibody deficiencies (24.5%) and well-defined syndromes with immunodeficiency (24%). Among 287 patients tested for genetic disorders, 129 patients carried pathogenic mutations; 102 having biallelic variants mostly in a homozygous state (autosomal recessive disorders). The highest mortality rate was observed in patients with combined immunodeficiency (70.1%), especially in patients with severe combined immunodeficiency (SCID), Omenn syndrome, or Major Histocompatibility Complex (MHC) class II deficiency., Conclusion: The spectrum of IEI in Algeria is similar to that seen in most countries of the Middle East and North Africa (MENA) region, notably regarding the frequency of autosomal recessive and/or combined immunodeficiencies., 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., (Copyright © 2022 Belaid, Lamara Mahammed, Drali, Oussaid, Touri, Melzi, Dehimi, Berkani, Merah, Larab, Allam, Khemici, Kirane, Boutaba, Belbouab, Bekkakcha, Guedouar, Chelali, Baamara, Noui, Baaziz, Rezak, Azzouz, Aichaoui, Moktefi, Benhatchi, Oussalah, Benaissa, Laredj, Bouchetara, Adria, Habireche, Tounsi, Dahmoun, Touati, Boucenna, Bouferoua, Sekfali, Bouhafs, Aboura, Kherra, Inouri, Dib, Medouri, Khelfaoui, Redjedal, Zelaci, Yahiaoui, Medjadj, Touhami, Kadi, Amireche, Frada, Houasnia, Benarab, Boubidi, Ferhani, Benalioua, Sokhal, Benamar, Aggoune, Hadji, Bellouti, Rahmoune, Boutrid, Okka, Ammour, Saadoune, Amroun, Belhadj, Ghanem, Abbaz, Boudrioua, Zebiche, Ayad, Hamadache, Ouaras, Achour, Bouchair, Boudiaf, Bekkat-Berkani, Maouche, Bouzrar, Aissat, Ibsaine, Bioud, Kedji, Dahlouk, Bensmina, Radoui, Bessahraoui, Bensaadi, Mekki, Zeroual, Chan, Leung, Tebaibia, Ayoub, Mekideche, Gharnaout, Casanova, Puel, Lau, Cherif, Ladj, Smati, Boukari, Benhalla and Djidjik.)

Objectives: To evaluate the diagnostic and predictive contribution of autoantibodies screening in patients with primary immunodeficiencies (PIDs)., Methods: In the present study, PID patients and healthy controls have been screened for 54 different autoantibodies. The results of autoantibodies screening in PID patients were correlated to the presence of autoimmune diseases., Results: A total of 299 PID patients were included in this study with a predominance of antibody deficiencies (27.8%) followed by immunodeficiencies affecting cellular and humoral immunity (26.1%) and complement deficiencies (22.7%). Autoimmune manifestations were present in 82 (27.4%) patients. Autoimmune cytopenia (10.4%) was the most common autoimmune disease followed by gastrointestinal disorders (10.0%), rheumatologic diseases (3.7%), and endocrine disorders (3.3%). Autoantibodies were found in 32.4% of PID patients and 15.8% of healthy controls ( P < 0.0005). Anti-nuclear antibodies (ANA) (10.0%), transglutaminase antibody (TGA) (8.4%), RBC antibodies (6.7%), anti-smooth muscle antibody (ASMA) (5.4%), and ASCA (5.0%) were the most common autoantibodies in our series. Sixty-seven out of the 82 patients with autoimmune manifestations (81.7%) were positive for one or more autoantibodies. Eleven out of the 14 patients (78.6%) with immune thrombocytopenia had positive platelet-bound IgM. The frequencies of ASCA and ANCA among patients with IBD were 47.4% and 21.0% respectively. All patients with celiac disease had TGA-IgA, while six out of the 11 patients with rheumatologic diseases had ANA (54.5%). Almost one third of patients (30/97) with positive autoantibodies had no autoimmune manifestations. ANA, rheumatoid factor, ASMA, anti-phospholipid antibodies and ANCA were often detected while specific AID was absent. Despite the low positive predictive value of TGA-IgA and ASCA for celiac disease and inflammatory bowel disease respectively, screening for these antibodies identified undiagnosed disease in four patients with positive TGA-IgA and two others with positive ASCA., Conclusion: The present study provides valuable information about the frequency and the diagnostic/predictive value of a large panel of autoantibodies in PIDs. Given the frequent association of some AIDs with certain PIDs, screening for corresponding autoantibodies would be recommended. However, positivity for autoantibodies should be interpreted with caution in patients with PIDs due to their low positive predictive value., 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., (Copyright © 2021 Tahiat, Yagoubi, Ladj, Belbouab, Aggoune, Atek, Bouziane, Melzi, Boubidi, Drali, Bendahmane, Iguerguesdaoune, Taguemount, Soufane, Oukil, Ketfi, Messaoudi, Boukhenfouf, Ifri, Bencharif Madani, Belhadj, Benhala, Khiari, Cherif, Smati, Arada, Zeroual, Bouzerar, Ibsaine, Maouche, Boukari and Djenouhat.)

Juvenile hemochromatosis is a rare autosomal recessive disease due to variants in the Hemojuvelin (HJV) gene. Although biological features mimic HFE hemochromatosis, clinical presentation is worst with massive iron overload diagnosed during childhood. Our study describes clinical features and results of genetic testing for a group of patients initially referred for a hepcidino-deficiency syndrome and for whom HJV hemochromatosis was finally diagnosed. 662 patients with iron overload and high serum transferrin saturation were tested, and five genes (HFE, HJV, HAMP, TFR2, SLC40A1) were sequenced. Among our cohort, ten unrelated patients were diagnosed with HJV hemochromatosis. Genetic testing revealed five previously published and five undescribed variants: p.Arg41Pro, p.His180Arg, p.Lys299Glu, p.Cys361Arg and p.Ala384Val. Surprisingly, this study revealed a late age of onset in some patients, contrasting with the commonly accepted definition of "juvenile" hemochromatosis. Five of our patients were 30 years old or older, including two very late discoveries. Biological features and severity of iron overload were similar in younger and older patients. Our study brings new insight on HJV hemochromatosis showing that mild phenotype and late onset are possible. Genetic testing for HJV variants should thus be performed for all patients displaying a non-p.Cys282Tyr homozygous HFE hemochromatosis with hepcidin deficiency phenotype., (Copyright © 2018 Elsevier Inc. All rights reserved.)