Bánlaki Z, Doleschall M, Rajczy K, Fust G, Szilágyi A. Fine-tuned characterization of RCCX copy number variants and their relationship with extended MHC haplotypes. Genes Immun 2012;13:530–5.
Liesmaa I, Paakkanen R, Jarvinen A, Valtonen V, Lokki M-L. Clinical features of patients with homozygous complement C4A or C4B deficiency. PLoS One 2018;13:e0199205.
Lintner K, Wu Y, Yang Y, et al. Early components of the complement classical activation pathway in human systemic autoimmune diseases. Front Immunol 2016;7:36.
Pereira K, Faria A, Liphaus B, et al. Low C4, C4A, and C4B gene copy numbers are stronger risk factors for juvenile-onset than for adult-onset systemic lupus erythematosus. Rheumatology 2016;55:869–73.
Bay JT, Schejbel L, Madsen HO, Sørensen SS, Hansen JM, Garred P. Low C4 gene copy numbers are associated with superior graft survival in patients transplanted with a deceased donor kidney. Kidney Int 2013;84:562–9.
Mostafa G, Shehab A. The link of C4B null allele to autism and to a family history of autoimmunity in Egyptian autistic children. J Neuroimmunol 2010;223:115–9.
Kramer J, Fülöp T, Rajczy K, Nguyen AT, Füst G. A marked drop in the incidence of the null allele of the B gene of the fourth component of complement (C4B*Q0) in elderly subjects: C4B*Q0 as a probable negative selection factor for survival. Hum Genet 1991;86:595–8.
Szilagyi A, Fust G. Diseases associated with the low copy number of the C4B gene encoding C4, the fourth component of complement. Cytogenet Genome Res 2008;123:118–30.
Kainulainen L, Peltola V, Seppänen M, et al. C4A deficiency in children and adolescents with recurrent respiratory infections. Hum Immunol 2012;73:498–501.
Rich S, O’Neill G, Dalmasso AP, Nerl C, Barbosa J. Complement and HLA: further definition of high-risk haplotypes in insulin-dependent diabetes. Diabetes 1985;34:504–9.
Flachsbart F, Caliebe A, Heinsen F-A, et al. Investigation of complement component C4 copy number variation in human longevity. PLoS One 2014;9:e86188.
Grassmann F, Cantsilieris S, Schulz-Kuhnt A-S, et al. Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD). J Neuroinflamm 2016;13:81.