C4 allotyping 13 homozygous C2-deficient individuals demonstrated 23 of 25 haplotypes to be of the relatively rare type C4A4 B2. This is of the same magnitude as the association of C2Q0 with HLA-DW2/DR2.
Z L Awdeh, D D Raum, D Glass, V Agnello, P H Schur, R B Johnston Jr, E W Gelfand, M Ballow, E Yunis, C A Alper
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Combined Heterozygous Genetic Variations in Complement C2 and C8B: An Explanation for Multidimensional Immune Imbalance?
Mannes M, Halbgebauer R, Wohlgemuth L, Christian Messerer DA, Savukoski S, Schultze A, Berger B, Knapp CL, Schmidt CQ, Fürst D, Hillmer M, Siebert R, Eriksson O, Persson B, Nilsson B, Ekdahl KN, Huber-Lang M |
Journal of Innate Immunity | 2023 |
The Path to Conserved Extended Haplotypes: Megabase-Length Haplotypes at High Population Frequency
CA Alper |
Frontiers in Genetics | 2021 |
Laboratory testing for the diagnosis, evaluation, and management of systemic lupus erythematosus: Still more questions for the next generations
PH Schur |
Clinical Immunology | 2016 |
Advances in Immunology
E Pinaud, M Marquet, R Fiancette, S Péron, C Vincent-Fabert, Y Denizot, M Cogné |
Advances in Immunology Volume 110 | 2011 |
Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases
VG Fowler, WM Scheld, AS Bayer |
Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases | 2010 |
Complete complement deficiency in a large cohort of familial systemic lupus erythematosus
R Aggarwal, AL Sestak, A D'Sousa, SP Dillon, B Namjou, RH Scofield |
Lupus | 2009 |
Study of alleles of the second complement component (C2) on Canadian HLA haplotypes
WH Marshall, JM Barnard, D Churchill, NR Farid, R Grandy, B Larsen, RH Payne, VM Skanes, GC Ebers, DW Paty, H Mervart, ML Schroeder |
Tissue Antigens | 2008 |
Immunoglobulin deficiencies and susceptibility to infection among homozygotes and heterozygotes for C2 deficiency
CA Alper, J Xu, K Cosmopoulos, B Dolinski, R Stein, G Uko, CE Larsen, DP Dubey, P Densen, L Truedsson, G Sturfelt, AG Sjöholm |
Journal of Clinical Immunology | 2003 |
GENETICS OF SYSTEMIC LUPUS ERYTHEMATOSUS
KE Sullivan |
Rheumatic Disease Clinics of North America | 2000 |
HLA and Systemic Vasculitides, Systemic Lupus Erythematosus and Sjögren's Syndrome
MC Pickering, M Perraudeau, MJ Walport |
2000 | |
The Complement FactsBook
LB Klickstein, JM Moulds |
The Complement FactsBook | 2000 |
Links between complement abnormalities and systemic lupus erythematosus
MC Pickering, MJ Walport |
Rheumatology (Oxford, England) | 2000 |
HLA-Cw alleles associated with HLA extended haplotypes and C2 deficiency
OP Clavijo, JC Delgado, ZL Awdeh, O Fici, D Turbay, CA Alper, L Truedsson, EJ Yunis |
Tissue Antigens | 1998 |
Molecular analysis of major histocompatibility complex allelic associations with systemic lupus erythematosus in Taiwan
LY Lu, WZ Ding, D Fici, R Deulofeut, HH Cheng, CC Cheu, PK Sung, PH Schur, PA Fraser |
Arthritis & Rheumatism | 1997 |
The Rose Payne award lecture of 1992 revisited
EJ Yunis |
Human Immunology | 1996 |
Type II Human Complement C2 Deficiency: ALLELE-SPECIFIC AMINO ACID SUBSTITUTIONS (Ser Phe; Gly Arg) CAUSE IMPAIRED C2 SECRETION
RA Wetsel, J Kulics, ML Lokki, P Kiepiela, H Akama, CA Johnson, P Densen, HR Colten |
The Journal of biological chemistry | 1996 |
Autoantibodies to the collagen-like region of C1q are strongly associated with classical pathway-mediated hypocomplementemia in systemic lupus erythematosus
V Frémeaux-Bacchi, L Weiss, C Demouchy, J Blouin, MD Kazatchkine |
Lupus | 1996 |
Genetic Deficiencies of Complement
ML Lokki, HR Colten |
Annals of Medicine | 1995 |
Association between chronic cutaneous lupus erythematosus and HLA class II alleles
GF Fischer, WF Pickl, I Faé, B Anegg, S Milota, B Volc-Platzer |
Human Immunology | 1994 |
Prevalence of the Type I Complement C2 Deficiency Gene in Swedish Systemic Lupus Erythematosus Patients
L Truedsson, G Sturfelt, O Nived |
Lupus | 1993 |
Complement in Health and Disease
K Whaley, M Loos, JM Weiler |
1993 | |
Genetically determined deficiences of the complement system
KE Sullivan, JA Winkelstein |
Pediatric Allergy and Immunology | 1992 |
Molecular Heterogeneity of C2 Deficiency
CA Johnson, P Densen, RA Wetsel, FS Cole, NE Goeken, HR Colten |
New England Journal of Medicine | 1992 |
The Complement System
A Agostoni, M Cicardi, M Gardinali, L Bergamaschini |
International journal of immunopathology and pharmacology | 1992 |
Complement factor 2 deficiency: a clinical and serological family study
D D'Cruz, J Taylor, T Ahmed, R Asherson, M Khamashta, GR Hughes |
Annals of the rheumatic diseases | 1992 |
Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing
CA Johnson, P Densen, RK Hurford, HR Colten, RA Wetsel |
The Journal of biological chemistry | 1992 |
A restriction fragment of the C2 gene is a unique marker for C2 deficiency and the uncommon C2 allele C2*B (a marker for type 1 diabetes)
S Simon, Z Awdeh, RD Campbell, PR 2nd, SJ Brink, GS Eisenbarth, EJ Yunis, CA Alper |
Journal of Clinical Investigation | 1991 |
Infectious diseases associated with complement deficiencies
JE Figueroa, P Densen |
Clinical microbiology reviews | 1991 |
3 The molecular genetics of components of the complement system
RD Campbell |
Baillière's Clinical Rheumatology | 1988 |
Genetics of the Complement System
CA Alper |
Annals of the New York Academy of Sciences | 1986 |
Relationship between C4 null genes, HLA-D region antigens, and genetic susceptibility to systemic lupus erythematosus in Caucasian and Black Americans
PF Howard, MC Hochberg, WB Bias, FC Arnett, RH McLean |
The American Journal of Medicine | 1986 |
Immunogenetic profile of multiple sclerosis in Mexicans
C Gorodezky, R Najera, BE Rangel, LE Castro, J Flores, G Velázquez, J Granados, J Sotelo |
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The effect of null C4 alleles on complement function
TR Welch, L Beischel, A Berry, J Forristal, CD West |
Clinical Immunology and Immunopathology | 1985 |
HLA and Disease Associations
JL Tiwari, PI Terasaki |
1985 | |
Genetically determined variation in the complement system: Relationship to disease
RH McLean, JA Winkelstein |
The Journal of Pediatrics | 1984 |
Immunogenetics
JJ Oger, BG Arnason |
Immunogenetics | 1984 |
Serum Complement ‘Supergenes' of the Major Histocompatibility Complex in Man (Complotypes)
CA Alper, D Raum, S Karp, ZL Awdeh, EJ Yunis |
Vox Sanguinis | 1983 |
Multiple Sclerosis: Immunogenetic Analyses of Sib-Pair Double Case Families. II. Studies on the Association of Multiple Sclerosis with C2, C4, BF, C3, C6, and GLO Polymorphisms
R Schröder, H Zander, A Andreas, G Mauff |
Immunobiology | 1983 |
ASSOCIATION OF THE C2-DEFICIENCY GENE (C2*QO) WITH THE C4A*4, C4B*2 GENES
G Hauptmann, MM Tongio, J Goetz, S Mayer, R Fauchet, A Sobel, C Griscel, F Berthoux, C Rivat, U Rother |
European Journal of Immunogenetics | 1982 |
Complement C4 allotypes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Further evidence for different allelic variants at the 21-hydroxylase locus
GJ O'Neill, B Dupont, MS Pollack, LS Levine, MI New |
Clinical Immunology and Immunopathology | 1982 |
The BF locus and HLA: Rare alleles coding for functionally active and inactive factor-B products
GJ O'Neill, P Miniter, C Nerl, SY Yang, B Dupont, MS Pollack |
Human Immunology | 1982 |
Extended major histocompatibility complex haplotypes in man: Role of alleles analogous to murine t mutants
CA Alper, ZL Awdeh, DD Raum, EJ Yunis |
Clinical Immunology and Immunopathology | 1982 |
Inherited Complement Deficiency States and SLE
RI Rynes |
Clinics in rheumatic diseases | 1982 |