Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS et al.
Bmc Genomic Data, 2023
Host genetic susceptibility underlying SARS-CoV-2-associated Multisystem Inflammatory Syndrome in Brazilian Children.
Santos-Rebouças CB et al.
Molecular Medicine (cambridge, Mass.), 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
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
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
31440263 (PubMed )
Supplement: Table_1.DOCX
Complete deficiency of the sixth complement component (C6Q0), susceptibility to Neisseria meningitidis infections and analysis of the frequencies of C6Q0 gene defects in South Africans.
Orren A et al.
Clinical and Experimental Immunology, 2012
Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family.
Parham KL et al.
Molecular Immunology, 2007
Deficiency of the sixth component of complement and susceptibility to Neisseria meningitidis infections: studies in 10 families and five isolated cases.
Orren A et al.
Immunology, 1987
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