Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria.

Autor:	Tahiat A; Department of Medical Biology, Rouiba Hospital, University of Algiers 1, Algiers, Algeria., Belbouab R; Department of Pediatrics, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria., Yagoubi A; Pediatric Gastroenterology, Centre Algérois de Pédiatrie, Algiers, Algeria., Hakem S; Department of Pediatrics, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria., Fernini F; Department of Pediatrics, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria., Keddari M; Department of Pediatrics, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria., Belhadj H; Department of Pediatrics, Central Hospital of the Army, Algiers, Algeria., Touri S; Department of Pediatrics, Blida University Hospital, University of Blida, Blida, Algeria., Aggoune S; Department of Pediatrics, El-Harrach Hospital, University of Algiers 1, Algiers, Algeria., Stoddard J; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States., Niemela J; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States., Zerifi F; Department of Pediatrics, Ain Taya Hospital, University of Algiers 1, Algiers, Algeria., Melzi S; Department of Pediatrics, Bab El-Oued University Hospital, University of Algiers 1, Algiers, Algeria., Aboura R; Department of Pediatrics, Bab El-Oued University Hospital, University of Algiers 1, Algiers, Algeria., Saad-Djaballah A; Department of Pediatrics, Bologhine Hospital, University of Algiers 1, Algiers, Algeria., Ferhani Y; Department of Pediatrics, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria., Ketfi A; Department of Pneumology, Rouiba Hospital, University of Algiers 1, Algiers, Algeria., Messaoudi H; Department of Internal Medicine, Rouiba Hospital, University of Algiers 1, Algiers, Algeria., Bencharif Madani T; Department of Pediatrics, Mansourah Hospital, University of Constantine, Constantine, Algeria., Benhacine Z; Department of Pediatrics, Constantine University Hospital, University of Constantine, Constantine, Algeria., Dehimi A; Department of Pediatrics, Setif University Hospital, University of Setif, Setif, Algeria., Okka K; Department of Pediatrics, Setif University Hospital, University of Setif, Setif, Algeria., Amroune F; Department of Pediatrics, Setif University Hospital, University of Setif, Setif, Algeria., Fellahi M; Department of Pediatrics, Setif University Hospital, University of Setif, Setif, Algeria., Bendahmane C; Department of Pediatrics, Meftah Hospital, Blida, Algeria., Khoulani R; Department of Pediatrics, Meftah Hospital, Blida, Algeria., Oukil A; Department of Medical Biology, Rouiba Hospital, University of Algiers 1, Algiers, Algeria., Soufane A; Department of Medical Biology, Rouiba Hospital, University of Algiers 1, Algiers, Algeria., Bourelaf I; Department of Medical Biology, Rouiba Hospital, University of Algiers 1, Algiers, Algeria., Boubidi C; Department of Pediatrics A, Hussein Dey University Hospital, University of Algiers 1, Algiers, Algeria., Boukhenfouf N; Department of Pediatrics, Rouiba Hospital, Algiers, Algeria., Amine Ifri M; Department of Pediatrics, Thenia Hospital, Boumerdes, Algeria., Khelafi N; Department of Pediatrics, Thenia Hospital, Boumerdes, Algeria., Boudiaf H; Department of Pediatric Oncology, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria., Khelifi Touhami T; Private Practitioner, Constantine, Algeria., Meçabih F; Department of Immunology, Institut Pasteur d'Algérie, University of Algiers 1, Algiers, Algeria., Boucelma M; Department of Internal Medicine, Kouba Hospital, University of Algiers 1, Algiers, Algeria., Zelaci A; Department of Pediatrics, El Oued Hospital, El Oued, Algeria., Gacem O; Department of Pediatrics, Birtraria Hospital El Biar, University of Algiers 1, Algiers, Algeria., Ladj MS; Department of Pediatrics, Birtraria Hospital El Biar, University of Algiers 1, Algiers, Algeria., Mekki A; Department of Pediatrics B, Hussein Dey University Hospital, University of Algiers 1, Algiers, Algeria., Bensaadi N; Department of Pediatrics, Tizi Ouzou University Hospital, University of Tizi Ouzou, Tizi Ouzou, Algeria., Benhalima M; Algiers Faculty of Pharmacy, University of Algiers 1, Algiers, Algeria., Zeroual Z; Department of Pediatrics A, Hussein Dey University Hospital, University of Algiers 1, Algiers, Algeria., Bioud B; Department of Pediatrics, Setif University Hospital, University of Setif, Setif, Algeria., Benameur M; Department of Internal Medicine, Rouiba Hospital, University of Algiers 1, Algiers, Algeria., Bouhdjila R; Department of Pediatrics, Constantine University Hospital, University of Constantine, Constantine, Algeria., Bouzerar Z; Department of Pediatrics, Bab El-Oued University Hospital, University of Algiers 1, Algiers, Algeria., Ibsaine O; Department of Pediatrics, Ain Taya Hospital, University of Algiers 1, Algiers, Algeria., Maouche H; Department of Pediatrics, El-Harrach Hospital, University of Algiers 1, Algiers, Algeria., Kedji L; Department of Pediatrics, Blida University Hospital, University of Blida, Blida, Algeria., Smati L; Department of Pediatrics, Bologhine Hospital, University of Algiers 1, Algiers, Algeria., Boukari R; Department of Pediatrics, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria., Lambert C; Cytometry Unit, Immunology Laboratory, Saint-Etienne University Hospital, Saint-Étienne, Lyon, France., Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States., Notarangelo LD; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States., Djenouhat K; Department of Medical Biology, Rouiba Hospital, University of Algiers 1, Algiers, Algeria.
Jazyk:	angličtina
Zdroj:	Frontiers in immunology [Front Immunol] 2024 Jul 12; Vol. 15, pp. 1402038. Date of Electronic Publication: 2024 Jul 12 (Print Publication: 2024).
DOI:	10.3389/fimmu.2024.1402038
Abstrakt:	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.)
Databáze:	MEDLINE
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