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Peer-reviewedCC BYJournal of human immunity

MHC-II deficiency in a large Algerian cohort: Clinical, immunological, and genetic characterization.

  • Lydia Lamara Mahammed1
  • Brahim Belaid1
  • Koon-Wing Chan2
  • Aida Mohand-Oussaid3
  • Ouardia Drali4
  • Abdelhak Dehimi5
  • Daniel Leung2
  • Lilya Meriem Berkani1
  • Hassiba Sakhri6
  • Asmaa Abed6
  • Meriem Tahir6
  • Fatma Merah1
54 more authors
  • Amina Salmi7
  • Wassila Messadi7
  • Souhila Melzi8
  • Jing Yang2
  • Xing Tian Yang2
  • Jennifer Stoddard9
  • Julie Niemela9
  • Heather Kenney10
  • Fella Dahmoune11
  • Fairouz Guerrouche12
  • Ahlem Mechali13
  • Amina Saad Djaballah14
  • Lamia Amirat15
  • Meriem Oussalah4
  • Yacine Inouri16
  • Saadeddine Dib17
  • Fatima Benbida18
  • Chahynez Boubidi19
  • Hind Ismahen Titri20
  • Lynda Sekfali21
  • Sidi Mohamed Azzouz22
  • Amel Laredj23
  • Fadela Bendaoud24
  • Halima Zerguine25
  • Djohra Hadef26
  • Ahmed Kadi27
  • Djazia Elhadef27
  • Hamza Boucenna3
  • Khadidja Benallal28
  • Moufida Djalab29
  • Chahrazed El Mezouar17
  • Rachid Bouhdjila30
  • Mimouna Bessahraoui22
  • Nadia Bensaadi31
  • Farih Mehdid32
  • Malek Benakli32
  • Farida Harieche33
  • Rawda Aboura8
  • Zoulikha Zeroual19
  • Leila Smati14
  • Salih Bendeddouche34
  • Reda Belbouab21
  • Azzeddine Mekki12
  • Belkacem Bioud5
  • Samir Mohamed Ladj15
  • Merzak Gharnaout27
  • Asmahane Ladjouze3
  • Ourida Gacem7

60 listed; 66 in total.

34 affiliations
  1. 1Department of Immunology, Beni Messous University Hospital Center, Algiers Faculty of Pharmacy, The University of Health Sciences, Algiers, Algeria.
  2. 2Department of Pediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
  3. 3Department of Pediatrics A, Beni Messous University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.
  4. 4Department of Pediatric Pulmonology and Allergology, Canastel Children's Hospital, Oran Faculty of Medicine, The University of Oran, Oran, Algeria.
  5. 5Department of Pediatrics, Setif University Hospital Center, Setif Faculty of Medicine, The University of Setif 1, Setif, Algeria.
  6. 6Department of Immunology, Beni Messous University Hospital Center, Algiers, Algeria.
  7. 7Department of Pediatrics B, Beni Messous University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.
  8. 8Department of Pediatrics, Bab El Oued University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.
  9. 9Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
  10. 10National Institute of Allergy and Infectious Diseases, National Institutes of Health , Bethesda, MD, USA.
  11. 11Department of Pediatrics, Bejaia University Hospital Center, Bejaia Faculty of Medicine, The University of Bejaia, Bejaia, Algeria.
  12. 12Department of Pediatrics B, Hussein Dey University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.
  13. 13Department of Pediatrics B, Hussein Dey University Hospital Center, Algiers, Algeria.
  14. 14Department of Pediatrics, Bologhine Hospital, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.
  15. 15Department of Pediatrics, Birtraria Hospital, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.
  16. 16Department of Pediatrics, Beni Messous Military Mother and Child Hospital, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.
  17. 17Department of Pediatrics, Specialized Mother and Child Hospital of Tlemcen, Tlemcen Faculty of Medicine, The University of Tlemcen, Tlemcen, Algeria.
  18. 18Department of Pediatrics, Specialized Mother and Child Hospital of Tlemcen, Tlemcen, Algeria.
  19. 19Department of Pediatrics A, Hussein Dey University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.
  20. 20Department of Pediatrics, Mustapha Bacha University Hospital Center, Algiers, Algeria.
  21. 21Department of Pediatrics, Mustapha Bacha University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.
  22. 22Department of Pediatric Gastroenterology and Nutrition, Canastel Children's Hospital, Oran Faculty of Medicine, The University of Oran, Oran, Algeria.
  23. 23Department of Pediatric Infectious Diseases, Canastel Children's Hospital, Oran Faculty of Medicine, The University of Oran, Oran, Algeria.
  24. 24Department of Neonatology, Specialized Mother and Child Hospital of Batna, Batna Faculty of Medicine, The University of Batna, Batna, Algeria.
  25. 25Department of Pediatrics, Specialized Mother and Child Hospital of Batna, Batna Faculty of Medicine, The University of Batna, Batna, Algeria.
  26. 26Department of Pediatrics, Batna University Hospital Center, Batna Faculty of Medicine, The University of Batna, Batna, Algeria.
  27. 27Department of Phthisiology and Pulmonology, Beni Messous University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.
  28. 28Department of Pediatrics, Sidi Bel Abbes University Hospital Center, Sidi Bel Abbes Faculty of Medicine, The University of Sidi Bel Abbes, Sidi Bel Abbes, Algeria.
  29. 29Department of Pediatrics, Regional Military University Hospital of Constantine, Constantine Faculty of Medicine, The University of Constantine, Constantine, Algeria.
  30. 30Department of Pediatrics B, Constantine University Hospital Center, Constantine Faculty of Medicine, The University of Constantine, Constantine, Algeria.
  31. 31Department of Pediatrics, Tizi Ouzou University Hospital Center, Tizi Ouzou Faculty of Medicine, The University of Tizi Ouzou, Tizi Ouzou, Algeria.
  32. 32Department of Hematology and Bone Marrow Transplantation, Pierre and Marie Curie Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.
  33. 33Department of Hematology and Bone Marrow Transplantation, Pierre and Marie Curie Center, Algiers Faculty of Pharmacy, The University of Health Sciences, Algiers, Algeria.
  34. 34Department of Pediatrics, Tlemcen University Hospital Center, Tlemcen Faculty of Medicine, The University of Tlemcen, Tlemcen, Algeria.
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Abstract

MHC class II (MHC-II) deficiency is a rare inborn error of immunity caused by defects in transcriptional regulators of MHC-II expression. In this study, we characterized the clinical, immunological, and molecular features of 107 patients from 98 unrelated Algerian families. Median ages at symptom onset and diagnosis were 5 and 14 mo, respectively, with pneumonia (82%) and chronic diarrhea (73%) predominating. CD4+ T cell lymphopenia occurred in 87.6% and naïve CD4+ T cell depletion in 86.0%. Among 99 genetically characterized patients, variants were identified exclusively in RFXANK (77.8%) and RFXAP (22.2%), including two predominant mutations (RFXANK c.338-25_338del and RFXAP c.368del) and four novel variants. Exploratory comparisons suggested a more severe phenotype in patients carrying RFXAP c.368del than in those carrying RFXANK c.338-25_338del. Five of seven transplanted patients survived versus 33.3% of non-transplanted patients. As the largest MHC-II deficiency cohort reported to date, this study substantially expands current knowledge of the disease and supports targeted genetic diagnosis in North African populations.

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Cite

BibTeXRIS
BibTeX
@article{mahammed2026mhcii,
  title = {{MHC-II deficiency in a large Algerian cohort: Clinical, immunological, and genetic characterization.}},
  author = {Lydia Lamara Mahammed and Brahim Belaid and Koon-Wing Chan and Aida Mohand-Oussaid and Ouardia Drali and Abdelhak Dehimi and Daniel Leung and Lilya Meriem Berkani and Hassiba Sakhri and Asmaa Abed and Meriem Tahir and Fatma Merah and Amina Salmi and Wassila Messadi and Souhila Melzi and Jing Yang and Xing Tian Yang and Jennifer Stoddard and Julie Niemela and Heather Kenney and Fella Dahmoune and Fairouz Guerrouche and Ahlem Mechali and Amina Saad Djaballah and Lamia Amirat and Meriem Oussalah and Yacine Inouri and Saadeddine Dib and Fatima Benbida and Chahynez Boubidi and Hind Ismahen Titri and Lynda Sekfali and Sidi Mohamed Azzouz and Amel Laredj and Fadela Bendaoud and Halima Zerguine and Djohra Hadef and Ahmed Kadi and Djazia Elhadef and Hamza Boucenna and Khadidja Benallal and Moufida Djalab and Chahrazed El Mezouar and Rachid Bouhdjila and Mimouna Bessahraoui and Nadia Bensaadi and Farih Mehdid and Malek Benakli and Farida Harieche and Rawda Aboura and Zoulikha Zeroual and Leila Smati and Salih Bendeddouche and Reda Belbouab and Azzeddine Mekki and Belkacem Bioud and Samir Mohamed Ladj and Merzak Gharnaout and Asmahane Ladjouze and Ourida Gacem},
  journal = {Journal of human immunity},
  year = {2026},
  month = oct,
  doi = {10.70962/jhi.20260162},
  url = {https://europepmc.org/article/MED/42961318},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - MHC-II deficiency in a large Algerian cohort: Clinical, immunological, and genetic characterization.
AU  - Lydia Lamara Mahammed
AU  - Brahim Belaid
AU  - Koon-Wing Chan
AU  - Aida Mohand-Oussaid
AU  - Ouardia Drali
AU  - Abdelhak Dehimi
AU  - Daniel Leung
AU  - Lilya Meriem Berkani
AU  - Hassiba Sakhri
AU  - Asmaa Abed
AU  - Meriem Tahir
AU  - Fatma Merah
AU  - Amina Salmi
AU  - Wassila Messadi
AU  - Souhila Melzi
AU  - Jing Yang
AU  - Xing Tian Yang
AU  - Jennifer Stoddard
AU  - Julie Niemela
AU  - Heather Kenney
AU  - Fella Dahmoune
AU  - Fairouz Guerrouche
AU  - Ahlem Mechali
AU  - Amina Saad Djaballah
AU  - Lamia Amirat
AU  - Meriem Oussalah
AU  - Yacine Inouri
AU  - Saadeddine Dib
AU  - Fatima Benbida
AU  - Chahynez Boubidi
AU  - Hind Ismahen Titri
AU  - Lynda Sekfali
AU  - Sidi Mohamed Azzouz
AU  - Amel Laredj
AU  - Fadela Bendaoud
AU  - Halima Zerguine
AU  - Djohra Hadef
AU  - Ahmed Kadi
AU  - Djazia Elhadef
AU  - Hamza Boucenna
AU  - Khadidja Benallal
AU  - Moufida Djalab
AU  - Chahrazed El Mezouar
AU  - Rachid Bouhdjila
AU  - Mimouna Bessahraoui
AU  - Nadia Bensaadi
AU  - Farih Mehdid
AU  - Malek Benakli
AU  - Farida Harieche
AU  - Rawda Aboura
AU  - Zoulikha Zeroual
AU  - Leila Smati
AU  - Salih Bendeddouche
AU  - Reda Belbouab
AU  - Azzeddine Mekki
AU  - Belkacem Bioud
AU  - Samir Mohamed Ladj
AU  - Merzak Gharnaout
AU  - Asmahane Ladjouze
AU  - Ourida Gacem
PY  - 2026
DA  - 2026/10/30
JO  - Journal of human immunity
DO  - 10.70962/jhi.20260162
UR  - https://europepmc.org/article/MED/42961318
AB  - MHC class II (MHC-II) deficiency is a rare inborn error of immunity caused by defects in transcriptional regulators of MHC-II expression. In this study, we characterized the clinical, immunological, and molecular features of 107 patients from 98 unrelated Algerian families. Median ages at symptom onset and diagnosis were 5 and 14 mo, respectively, with pneumonia (82%) and chronic diarrhea (73%) predominating. CD4+ T cell lymphopenia occurred in 87.6% and naïve CD4+ T cell depletion in 86.0%. Among 99 genetically characterized patients, variants were identified exclusively in RFXANK (77.8%) and RFXAP (22.2%), including two predominant mutations (RFXANK c.338-25_338del and RFXAP c.368del) and four novel variants. Exploratory comparisons suggested a more severe phenotype in patients carrying RFXAP c.368del than in those carrying RFXANK c.338-25_338del. Five of seven transplanted patients survived versus 33.3% of non-transplanted patients. As the largest MHC-II deficiency cohort reported to date, this study substantially expands current knowledge of the disease and supports targeted genetic diagnosis in North African populations.
SN  - 3065-8993
ER  -