Complete complement components C4A and C4B deficiencies in human kidney diseases and systemic lupus erythematosus

Y Yang, K Lhotta, EK Chung, P Eder… - The Journal of …, 2004 - journals.aai.org
Although a heterozygous deficiency of either complement component C4A or C4B is
common, and each has a frequency of∼ 20% in a Caucasian population, complete …

The molecular basis of complete complement C4A and C4B deficiencies in a systemic lupus erythematosus patient with homozygous C4A and C4B mutant genes

KL Rupert, JM Moulds, Y Yang, FC Arnett… - The Journal of …, 2002 - journals.aai.org
The disease course of a complete C4-deficient patient in the US was followed for 18 years.
The patient experienced multiple episodes of infection, and he was diagnosed with systemic …

The phenotype of SLE associated with complete deficiency of complement isotype C4A

TR Welch, C Brickman, N Bishof, S Maringhini… - Journal of clinical …, 1998 - Springer
Complete deficiency of the complement C4A isotype is a known genetic risk factor for
systemic lupus erythematosus (SLE). The disease phenotype of C4A-deficient patients has …

Restricted genetic defects underlie human complement C6 deficiency

MA Dragon-Durey, V Fremeaux-Bacchi… - Clinical & …, 2003 - academic.oup.com
Complement C6 homozygous deficiency (C6D) has been rarely observed in Caucasians but
was reported at higher prevalence among African-Americans. We report on the molecular …

The molecular basis for genetic deficiency of the second component of human complement

FS Cole, AS Whitehead, HS Auerbach… - … England Journal of …, 1985 - Mass Medical Soc
Genetic deficiency of the second component of complement (C2) is the most common
complement-deficiency state among Western Europeans and is frequently associated with …

Familial deficiency of two subunits of the first component of complement. c1r and c1s associated with a lupus erythematosus‐like disease

SL Lee, SL Wallace, R Barone, L Blum… - … : Official Journal of …, 1978 - Wiley Online Library
Complete absence of C1r and almost complete absence of C1s were found in 4 of 8 living
siblings. Two of the 4 suffer from a syndrome that combines discoid lupus erythematosus …

Deficiency of human complement protein C4 due to identical frameshift mutations in the C4A and C4B genes

ML Lokki, A Circolo, P Ahokas, KL Rupert… - The Journal of …, 1999 - journals.aai.org
The complement protein C4, encoded by two genes (C4A and C4B) on chromosome 6p, is
the most polymorphic among the MHC III gene products. We investigated the molecular …

Genetic bases of human complement C7 deficiency.

H Nishizaka, T Horiuchi, ZB Zhu… - … (Baltimore, Md.: 1950 …, 1996 - journals.aai.org
Abstract Complement C7 deficiency (C7D) is associated frequently with recurrent bacterial
infections, especially meningitis caused by Neisseria meningitidis. We report in this work the …

Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus

H Tsukamoto, T Horiuchi, H Kokuba, S Nagae… - Biochemical and …, 2005 - Elsevier
A case of inherited homozygous complement C3 deficiency (C3D) in a patient with systemic
lupus erythematosus (SLE) and the molecular basis for this deficiency are reported. A 22 …

Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited

MA Rameix‐Welti, CH Régnier… - European journal of …, 2007 - Wiley Online Library
Deficiencies in terminal complement components, including the component C7, are
uncommon and associated with an increased risk of recurrent systemic neisserial infection …