Open access
The genetic landscape of RAG deficiency: Novel and founder variants in a large Algerian cohort
Brahim Belaid
Ko-On-Wing Chan
J. Stoddard
Julie E. Niemela
Heather Kenney
A. de Jesus
D. Leung
Jing Yang
Xing-Tian Yang
A. Dehimi
O. Drali
Ayda Mohand-Oussaid
Lydia Lamara Mahammed
L. Berkani
Hassiba Sakhri
Asmaa Abed
Meriem Tahir
Fatma Merah
A. Benmoussa
I. Allam
Lylia Djidjeli
Hadia Boussaha
Amina Salmi
Sonia Yasmine Kirane
Radia Rezzak
Fella Lamrani
Souhila Melzi
Fella Dahmoune
Fairouz Guerrouche
Ahlem Mechali
Amina Saad-Djaballah
Lamia Amirat
Meriem Oussalah
Yacine Inouri
S. Dib
Fatima Benbida
Amara Zelaci
Mohamed Amine Ifri
Kawthar Allali
Seddam Hocin Gafazi
S. Makhloufi
Houda Larkat
Fadela Bendaoud
Noui Djamila
H. Boucenna
Khadidja Benallal
C. El Mezouar
S. Bicha
Rachid Bouhdjila
N. Bensaadi
F. Mehdid
M. Benakli
R. Aboura
Z. Zeroual
L. Smati
Salih Bendeddouche
Reda Belbouab
A. Mekki
B. Bioud
S. Ladj
A. Ladjouze
Ourida Gacem
Nafissa Benhalla
J. R. Rosa Duque
S. Rosenzweig
Yu-Lung Lau
L. Notarangelo
R. Djidjik
Medicine
Abstract
This study characterizes RAG1/RAG2 deficiency, a severe inherited immune disorder, in the largest reported cohort from a North African country. Two founder mutations explain most cases, yet limited transplant access drives high mortality, highlighting the need for newborn screening.