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Blood, Vol. 111, Issue 3, 1512-1514, February 1, 2008
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency
Blood Józsi et al.
111: 1512
Supplemental materials for: Jozsi et al
Patients: family analyses
Patient 1 (family A) was diagnosed with aHUS at age 13 10/12, patient 2 (family B) was diagnosed with aHUS at age 7 2/12 and patient 3 (family C) at age 12. The initial sample assayed for the presence of CFH autoantibodies was taken at day of admission to the hospital prior to treatment. All three patients were treated with repeated plasmapheresis and their renal function recovered. Genetic deletion of CFHR1 and CFHR3 was analyzed as described and hybrid CFH/CFHR1 genes were excluded by sequencing genomic DNA (12). The sequence of the CFH (CFH), MCP (CD45) and Factor I (CFI), and Factor B (CFB) genes were analyzed for each patient. Except for a single amino acid exchange at position 950 Q to H in the CFH gene from patient AII1 no further disease-associated mutation was identified.
Files in this Data Supplement:
- Table S1. Localization of the binding domains of CFH autoantibodies in CFHR1 and CFHR3 deficient HUS patients (PDF, 25 KB) -
For domain mapping microtiter plates were coated with the indicated recombinant Factor H (CFH) fragments and probed with patient’s serum (16). Binding of autoantibodies to the indicated Factor H fragments was considered positive (+) for OD450 >0.35 A (reaching absorbance up to 1.5). Low binding (+) is based on an absorbance ranging from OD450 >0.2 to <0.3 and no binding (–) by an OD450 of <0.2.
- Figure S1. CFH autoantibodies levels in aHUS patients (JPG, 17.7 KB)
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Autoantibody levels were determined by ELISA in serum of a Jena HUS cohort (147 aHUS patients)(not shown) and a control group (100 healthy volunteers). The autoantibody levels in plasma of the 22 CFHR1 and CFHR3 deficient and of the two CFHR1 and CFHR3 low patients are indicated on the left panel. Sixteen (16) samples (left upper panel indicated by filled diamonds) were positive for CFH autoantibodies with a mean value of OD 0.77 ± 0.2, p < 0.00001). The other six CFHR1/CFHR3 deficient patients with an OD < 0.35 (mean OD 0.2 ± 0.1, p = 0.148) (left lower panel indicated by open diamonds) were considered negative. The antibody levels of the remaining 125 aHUS patients, which express CFHR1 and CFHR3, was
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