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Links from OMIM

Items: 3

1.

Properdin deficiency, type II

MedGen UID:
374229
Concept ID:
C1839455
Disease or Syndrome
2.

Properdin deficiency, X-linked

Properdin (factor P) is a plasma protein that is active in the alternative complement pathway of the innate immune system. It is a positive regulatory factor that binds to many microbial surfaces to stabilize the C3b,Bb convertase. Deficiency of properdin is associated in particular with a heightened susceptibility to Neisseria species (Janeway et al., 2001). [from OMIM]

MedGen UID:
333322
Concept ID:
C1839454
Disease or Syndrome
3.

Properdin deficiency, type III

MedGen UID:
326887
Concept ID:
C1839456
Disease or Syndrome
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