Resources on PID

Disease Contributors Clinical criteria for a probable diagnosis (= clinical diagnosis) Suggestions for alternative diagnosis (i.e. if these criteria are not completely fulfilled)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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