Associated Papers
Monogenic disorders of immunity: Common variants are not so rare.
Béziat V et al.
Cell Genomics, 2026
Whole-Exome Sequencing Reveals Rare Genetic Variants in Saudi COVID-19 Patients with Extreme Phenotypes.
Mir R et al.
Viruses, 2025
Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis.
Staels F et al.
Case Reports in Immunology, 2022
Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease.
Zhang AQ et al.
Experimental and Therapeutic Medicine, 2021
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
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