Disease | Contributors | Clinical criteria for a probable diagnosis (= clinical diagnosis) | Suggestions for alternative diagnosis (i.e. if these criteria are not completely fulfilled) |
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Complement component 1q deficiency (C1q deficiency) | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections with encapsulated organisms • SLE like syndrome • Family history of symptomatic C1q deficiency AND CH50/CH100 activity less than 10% of control value with normal AP50/AP100 activity |
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Complement component 1r deficiency (C1r deficiency) | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections with encapsulated organisms • SLE like syndrome • Ehler’s Danlos Phenotype • Family history of symptomatic C1r deficiency AND CH50/CH100 activity less than 10% of control value with normal AP50/AP100 activity |
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Complement component 1s deficiency (C1s deficiency) | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections with encapsulated organisms • SLE like syndrome • Multiple autoimmune diseases • Ehler’s Danlos Phenotype • Family history of symptomatic C1s deficiency AND CH50/CH100 activity less than 10% of control value with normal AP50/AP100 activity |
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Complement component 2 deficiency | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections (recurrent pyogenic) • Discoid lupus • SLE • Family history of symptomatic C2 Deficiency AND CH50 or CH100 activity less than 10% of control activity AND Absent C2 with normal C3 and C4 complement levels |
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Complement component 3 deficiency (C3) | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections (Neisseria or streptococcal) • Glomerulonephritis • Family history of symptomatic C3 Deficiency AND CH50/CH100 and AP50/AP100 less than 10% of control activity AND Absent immunochemical C3 with normal Factor H and I levels |
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Complement component 4 deficiency | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections (Neisserial) • Family history of recurrent Neisserial disease AND CH50 (or CH100) and AP50 (or AP100) activity less than 5% of control activity AND Low immunochemical C4 protein or reduced bactericidal activity |
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Complement component 5 deficiency | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections (Neisserial) • Family history of recurrent Neisserial disease AND CH50 (or CH100) and AP50 (or AP100) activity less than 5% of control activity AND Low immunochemical C5 protein or reduced bactericidal activity |
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Complement component 6 deficiency | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections (Neisserial) • Family history of recurrent Neisserial disease AND CH50 (or CH100) and AP50 (or AP100) activity less than 5% of control activity AND Low immunochemical C6 protein or reduced bactericidal activity |
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Complement component 7 deficiency | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections (Neisserial) • Family history of recurrent Neisserial disease AND CH50 (or CH100) and AP50 (or AP100) activity less than 5% of control activity AND Low immunochemical C7 protein or reduced bactericidal activity |
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Complement component 8 deficiency (C8A, C8B, C8G) | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections (Neisserial) • Family history of recurrent Neisserial disease AND CH50 (or CH100) and AP50 (or AP100) activity less than 5% of control activity AND Low immunochemical C8 protein or reduced bactericidal activity |
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Complement component 9 deficiency | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections (Neisserial) • Family history of recurrent Neisserial disease AND CH50 (or CH100) and AP50 (or AP100) activity less than 5% of control activity AND Absent immunochemical C9 protein or reduced bactericidal activity |
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Factor D deficiency | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections (recurrent pyogenic including Neisseria) • Family History of symptomatic Factor D Deficiency AND AP50/AP100 activity less than 10% of control value with normal CH50/CH100 activity Or Absent Factor D activity in serum in functional or immunochemical assessment |
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Factor H Deficiency | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections (recurrent pyogenic including Neisseria) • Family History of symptomatic Factor H Deficiency (Recessive or Dominant Inheritance) • Pre-eclampsia AND Reduced serum C3 (due to spontaneous activation) AND/OR Reduced AP50/AP100 and CH50/CH100 due to reduced serum C3 Or Absent Factor H by immunochemical assessment |
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Factor I Deficiency | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections (recurrent pyogenic including Neisseria) • Family History of symptomatic Factor I Deficiency (Recessive or Dominant Inheritance) • Pre-eclampsia |
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Ficolin 3 Deficiency (FC3RN) | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections • Glomerulonephritis • Multiple Abscesses AND Absent Ficollin dependent complement activation AND/OR Absent FC3RN |
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Hereditary Angioedema (C1inh) | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Recurrent angioedema without urticaria • Recurrent abdominal pain and vomiting • Laryngeal oedema • Family history of angioedema AND Low complement C4 (< 2.S.D of the mean) between or during angioedema attacks AND Absent C1 esterase protein (Type 1 HAE) or absent C1 esterase inhibitor function (Type 2 HAE) AND Normal C1q level |
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Membrane CoFactor Protein (CD46) Deficiency | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; Increased susceptibility to infections • Glomerulonephritis • Recurrent pyogenic infections • Pre-eclampsia AND AP50/AP100 activity less than 10% of control value with normal CH50/CH100 activity AND/OR Evidence of absent C3b binding by competitive immunoassay |
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Properdin P factor complement deficiency (PFC) | Matthew Buckland, Ania Manson, Sofia Grigoriadou | At least one of the following; • Increased susceptibility to infections (recurrent pyogenic including Neisseria) • Family History (X-linked inheritance pattern AND AP50/AP100 activity in at least the bottom 10% of control value with normal CH50/CH100 activity AND Absent Properdin (type I/II) or activity (type III) in serum in functional or immunochemical assessment |