Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

CR1 deficiency

CR1 deficiency is caused by mutations of the CR1 gene which encodes am important regulator of complement activation. To a variable degree a deficiency can influence the development of autoimmune diseases such as Lupus erythematodes, complement dysregualtion disorders such as MPGN, and infectious diseases such as malaria.

Systematic

Membranoproliferative glomerulonephritis (MPGN)
ADAMTS13
C1QA
C1QB
C1QC
C3
CD46
CFB
CFD
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
CR1 deficiency
CR1
Complement component C1q deficiency
Complement component C1s deficiency
DGKE
PIGA
THBD

References:

1.

Ohi H et. al. (1986) Two cases of mesangiocapillary glomerulonephritis with CR1 deficiency.

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2.

Strife CF et al. (1977) Membranoproliferative glomerulonephritis with disruption of the glomerular basement membrane.

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3.

Stutchfield PR et al. (1986) X-linked mesangiocapillary glomerulonephritis.

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4.

Habib R et al. () Idiopathic membranoproliferative glomerulonephritis in children. Report of 105 cases.

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5.

Mandalenakis N et al. (1971) Lobular glomerulonephritis and membranoproliferative glomerulonephritis: a clinical and pathologic study based on renal biopsies.

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6.

Berry PL et al. (1981) Membranoproliferative glomerulonephritis in two sibships.

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Update: Sept. 26, 2018