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

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.

Authors

Institutions

Publication Details

Journal
Journal of Human Immunity
Published
2026-10-30
DOI
https://doi.org/10.70962/jhi.20260162
Primary Topic
Immunodeficiency and Autoimmune Disorders
Type
article
Field-Weighted Citation Impact
0.00

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

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

Farida Harieche, Fatma Merah, Nadia Bensaadi, Salih Bendeddouche et al.
1 links
Journal of Human Immunity
Immunodeficiency and Autoimmune Disorders
article

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

Farida Harieche, Fatma Merah, Nadia Bensaadi, Salih Bendeddouche, Aida Mohand Oussaid, Lamia Amirat, Asmahane Ladjouze, Ourida Gacem, Nafissa Keltoum Benhalla, Sidi Mohamed Azzouz, Zoulikha Zeroual, Heather Kenney, Yacine Inouri, Luigi Daniele Notarangelo, Brahim Belaid, Reda Belbouab, Halima ZERGUINE, Amina Saad-Djaballah, Jaime S. Rosa Duque, Farih Mehdid, Meriem Oussalah, Lilya Meriem Berkani, Amel Laredj, Asmaa Abed, Sergio D. Rosenzweig, Lynda Sekfali, YL Lau, Azzeddine Mekki, Réda Djidjik, Ouardia Ibsaine, Mimouna BESSAHRAOUI, Ahmed Kadi, Julie E. Niemela, M. Gharnaout, Lydia Lamara Mahammed, Koon Wing Chan, Malek Benakli, Rawda Aboura, Jing Yang, Wassila Messadi, Souhila Melzi, Belkacem Bioud, Jennifer L. Stoddard, Chahynez Boubidi, Amina Salmi, Rachid Bouhdjila, Daniel Leung, Djohra Hadef, Xingtian Yang, Khadidja BENALLAL, Hassiba Sakhri, Hamza Boucenna, Abdelhak Dehimi, Fella Dahmoune, Saadeddine Dib, Samir Mohamed Ladj, Chahrazed El Mezouar, Fairouz Guerrouche, Meriem Tahir, Fadela Bendaoud, Leila Smati, Ahlem Mechali, Fatima Benbida, Moufida Djalab, Djazia Elhadef, Hind Ismahen Titri
article en

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.

Journal of Human ImmunityVol. 3(1)
National Institutes of Health (US), Université Oran 1 Ahmed Ben Bella (DZ), University of Batna 1 (DZ), University of Béjaïa (DZ), University of Algiers Benyoucef Benkhedda (DZ), University of Abou Bekr Belkaïd (DZ), Sorbonne Université (FR), University Ferhat Abbas of Setif (DZ), Centre Hospito Universitaire de Sétif (DZ), University of Algiers 3 (DZ), Université Djilali de Sidi Bel Abbès (DZ), National Institute of Allergy and Infectious Diseases (US), Centre Hospitalo-Universitaire Bab El Oued (DZ), Hôpital Mustapha Pacha (DZ), National Institutes of Health Clinical Center (US), Mouloud Mammeri University of Tizi-Ouzou (DZ), University Hospital of Oran (DZ), University of Batna 2 (DZ), University of Hong Kong (HK)
U.S. Department of Health and Human Services, National Institutes of Health
Good health and well-being
Openalex Percentile: Top 19%
Immunodeficiency and Autoimmune Disorders
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

Laika access coming soon