Frontiers in Immunology (Jul 2024)
Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria
- Azzeddine Tahiat,
- Reda Belbouab,
- Abdelghani Yagoubi,
- Saliha Hakem,
- Faiza Fernini,
- Malika Keddari,
- Hayet Belhadj,
- Souad Touri,
- Samira Aggoune,
- Jennifer Stoddard,
- Julie Niemela,
- Farida Zerifi,
- Souhila Melzi,
- Rawda Aboura,
- Amina Saad-Djaballah,
- Yacine Ferhani,
- Abdalbasset Ketfi,
- Hassen Messaoudi,
- Tahar Bencharif Madani,
- Zouleikha Benhacine,
- Abdelhak Dehimi,
- Kamelia Okka,
- Fairouz Amroune,
- Meriem Fellahi,
- Chafa Bendahmane,
- Radia Khoulani,
- Asma Oukil,
- Asma Soufane,
- Imene Bourelaf,
- Chahynez Boubidi,
- Nadia Boukhenfouf,
- Mohamed Amine Ifri,
- Noureddine Khelafi,
- Houda Boudiaf,
- Tahar Khelifi Touhami,
- Fethi Meçabih,
- Malika Boucelma,
- Amara Zelaci,
- Ourida Gacem,
- Mohamed Samir Ladj,
- Azzedine Mekki,
- Nadia Bensaadi,
- Malika Benhalima,
- Zoulikha Zeroual,
- Belkacem Bioud,
- Mustapha Benameur,
- Rachid Bouhdjila,
- Zahir Bouzerar,
- Ouardia Ibsaine,
- Hachemi Maouche,
- Leila Kedji,
- Leila Smati,
- Rachida Boukari,
- Claude Lambert,
- Sergio D. Rosenzweig,
- Luigi D. Notarangelo,
- Kamel Djenouhat
Affiliations
- Azzeddine Tahiat
- Department of Medical Biology, Rouiba Hospital, University of Algiers 1, Algiers, Algeria
- Reda Belbouab
- Department of Pediatrics, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria
- Abdelghani Yagoubi
- Pediatric Gastroenterology, Centre Algérois de Pédiatrie, Algiers, Algeria
- Saliha Hakem
- Department of Pediatrics, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria
- Faiza Fernini
- Department of Pediatrics, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria
- Malika Keddari
- Department of Pediatrics, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria
- Hayet Belhadj
- Department of Pediatrics, Central Hospital of the Army, Algiers, Algeria
- Souad Touri
- Department of Pediatrics, Blida University Hospital, University of Blida, Blida, Algeria
- Samira Aggoune
- Department of Pediatrics, El-Harrach Hospital, University of Algiers 1, Algiers, Algeria
- Jennifer Stoddard
- Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States
- Julie Niemela
- Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States
- Farida Zerifi
- Department of Pediatrics, Ain Taya Hospital, University of Algiers 1, Algiers, Algeria
- Souhila Melzi
- Department of Pediatrics, Bab El-Oued University Hospital, University of Algiers 1, Algiers, Algeria
- Rawda Aboura
- Department of Pediatrics, Bab El-Oued University Hospital, University of Algiers 1, Algiers, Algeria
- Amina Saad-Djaballah
- 0Department of Pediatrics, Bologhine Hospital, University of Algiers 1, Algiers, Algeria
- Yacine Ferhani
- Department of Pediatrics, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria
- Abdalbasset Ketfi
- 1Department of Pneumology, Rouiba Hospital, University of Algiers 1, Algiers, Algeria
- Hassen Messaoudi
- 2Department of Internal Medicine, Rouiba Hospital, University of Algiers 1, Algiers, Algeria
- Tahar Bencharif Madani
- 3Department of Pediatrics, Mansourah Hospital, University of Constantine, Constantine, Algeria
- Zouleikha Benhacine
- 4Department of Pediatrics, Constantine University Hospital, University of Constantine, Constantine, Algeria
- Abdelhak Dehimi
- 5Department of Pediatrics, Setif University Hospital, University of Setif, Setif, Algeria
- Kamelia Okka
- 5Department of Pediatrics, Setif University Hospital, University of Setif, Setif, Algeria
- Fairouz Amroune
- 5Department of Pediatrics, Setif University Hospital, University of Setif, Setif, Algeria
- Meriem Fellahi
- 5Department of Pediatrics, Setif University Hospital, University of Setif, Setif, Algeria
- Chafa Bendahmane
- 6Department of Pediatrics, Meftah Hospital, Blida, Algeria
- Radia Khoulani
- 6Department of Pediatrics, Meftah Hospital, Blida, Algeria
- Asma Oukil
- Department of Medical Biology, Rouiba Hospital, University of Algiers 1, Algiers, Algeria
- Asma Soufane
- Department of Medical Biology, Rouiba Hospital, University of Algiers 1, Algiers, Algeria
- Imene Bourelaf
- Department of Medical Biology, Rouiba Hospital, University of Algiers 1, Algiers, Algeria
- Chahynez Boubidi
- 7Department of Pediatrics A, Hussein Dey University Hospital, University of Algiers 1, Algiers, Algeria
- Nadia Boukhenfouf
- 8Department of Pediatrics, Rouiba Hospital, Algiers, Algeria
- Mohamed Amine Ifri
- 9Department of Pediatrics, Thenia Hospital, Boumerdes, Algeria
- Noureddine Khelafi
- 9Department of Pediatrics, Thenia Hospital, Boumerdes, Algeria
- Houda Boudiaf
- 0Department of Pediatric Oncology, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria
- Tahar Khelifi Touhami
- 1Private Practitioner, Constantine, Algeria
- Fethi Meçabih
- 2Department of Immunology, Institut Pasteur d’Algérie, University of Algiers 1, Algiers, Algeria
- Malika Boucelma
- 3Department of Internal Medicine, Kouba Hospital, University of Algiers 1, Algiers, Algeria
- Amara Zelaci
- 4Department of Pediatrics, El Oued Hospital, El Oued, Algeria
- Ourida Gacem
- 5Department of Pediatrics, Birtraria Hospital El Biar, University of Algiers 1, Algiers, Algeria
- Mohamed Samir Ladj
- 5Department of Pediatrics, Birtraria Hospital El Biar, University of Algiers 1, Algiers, Algeria
- Azzedine Mekki
- 6Department of Pediatrics B, Hussein Dey University Hospital, University of Algiers 1, Algiers, Algeria
- Nadia Bensaadi
- 7Department of Pediatrics, Tizi Ouzou University Hospital, University of Tizi Ouzou, Tizi Ouzou, Algeria
- Malika Benhalima
- 8Algiers Faculty of Pharmacy, University of Algiers 1, Algiers, Algeria
- Zoulikha Zeroual
- 7Department of Pediatrics A, Hussein Dey University Hospital, University of Algiers 1, Algiers, Algeria
- Belkacem Bioud
- 5Department of Pediatrics, Setif University Hospital, University of Setif, Setif, Algeria
- Mustapha Benameur
- 2Department of Internal Medicine, Rouiba Hospital, University of Algiers 1, Algiers, Algeria
- Rachid Bouhdjila
- 4Department of Pediatrics, Constantine University Hospital, University of Constantine, Constantine, Algeria
- Zahir Bouzerar
- Department of Pediatrics, Bab El-Oued University Hospital, University of Algiers 1, Algiers, Algeria
- Ouardia Ibsaine
- Department of Pediatrics, Ain Taya Hospital, University of Algiers 1, Algiers, Algeria
- Hachemi Maouche
- Department of Pediatrics, El-Harrach Hospital, University of Algiers 1, Algiers, Algeria
- Leila Kedji
- Department of Pediatrics, Blida University Hospital, University of Blida, Blida, Algeria
- Leila Smati
- 0Department of Pediatrics, Bologhine Hospital, University of Algiers 1, Algiers, Algeria
- Rachida Boukari
- Department of Pediatrics, Mustapha University Hospital, University of Algiers 1, Algiers, Algeria
- Claude Lambert
- 9Cytometry Unit, Immunology Laboratory, Saint-Etienne University Hospital, Saint-Étienne, Lyon, France
- Sergio D. Rosenzweig
- Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States
- Luigi D. Notarangelo
- 0National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States
- Kamel Djenouhat
- Department of Medical Biology, Rouiba Hospital, University of Algiers 1, Algiers, Algeria
- DOI
- https://doi.org/10.3389/fimmu.2024.1402038
- Journal volume & issue
-
Vol. 15
Abstract
PurposeIn 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.MethodsBetween 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.ResultsOver 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.ConclusionFlow 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.
Keywords
- flow cytometry
- lymphocyte phenotyping
- protein expression assays
- functional assays
- flow cytometry-based diagnostic approach
- complement deficiencies