Skip to content
Log in
Sponsored Design Multi-Agent AI Systems Using MCP and A2A: Engineer your own Pyt Design Multi-Agent AI Systems Using MCP and A2A: Engineer your own Pyt
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 Sara 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
Oct 2026 · Journal of human immunity · Vol 3 · 0 citations · 53 references
Medicine

TL;DR

This study characterizes RAG1/RAG2 deficiency, a severe inherited immune disorder, in the largest reported cohort from a North African country, highlighting the need for newborn screening.

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.

DOI PubMed Semantic Scholar
Read PDF

Similar papers

Open access Oct 2026

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

This study characterizes the clinical, immunological, and genetic spectrum of MHC-II deficiency in the largest cohort reported to date. It identifies recurrent and novel variants and reveals genotype–phenotype differences.

Lydia Lamara Mahammed, Brahim Belaid, Ko-On-Wing Chan et al. · 0 citations
Open access Oct 2026

Mosaic KRAS variants in childhood-onset systemic lupus erythematosus

This study identifies low-VAF KRAS variants in two children with systemic lupus erythematosus and confirms both variants in independent blood samples. The findings suggest that RAS pathway mosaicism may contribute to childhood lupus beyond classic RAS-associated autoimmune lymphoproliferative disease.

H. Irabu, Madoka Nishimura, Fumiaki Sakura et al. · 0 citations
Open access Sep 2026

A Novel Homozygous Frameshift Variant in ZNF699 Associated With DEGCAGS Syndrome With Severe Transfusion‐Dependent Anemia in an Indian Child: A Case Report

In children with unexplained multisystem involvement—global developmental delay, dysmorphism, skeletal anomalies, and severe transfusion‐dependent anemia—especially from consanguineous families, whole‐exome sequencing should be pursued early to enable timely diagnosis, proactive iron chelation, and genetic counseling.

Arimanda Chaitanya Laasya Reddy, A. Priya, Aditya Pachwa et al. · 0 citations
Open access Sep 2026

Exome Sequencing Identifies Novel Variants Causing Hearing Loss in Three Consanguineous Pakistani Families: Insights From Genomics and Bioinformatics Analyses

The mutational spectrum of MSRB3, ESRP1 and TMC1 genes associated with hearing loss is expanded and carrier screening and genetic counselling can be developed for affected families based on the findings obtained from the current study.

Zafar Ali, Najeeb Ullah, Muneeba Bibi et al. · 0 citations
Open access Oct 2026

Whole‐Exome Sequencing Reveals the Genetic Landscape and Genotype–Phenotype Spectrum of Dystonia in a Chinese Cohort

To systematically characterize the genetic landscape of dystonia in a Mainland Chinese cohort, where over 60% of patients currently lack a molecular diagnosis due to limited large‐scale genomic studies.

Yi-Qing Gong, Hui-Rong Peng, Zhao Chen et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.