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Properdin deficiency, X-linked(CFPD)

MedGen UID:
333322
Concept ID:
C1839454
Disease or Syndrome
Synonyms: CFPD; COMPLEMENT FACTOR PROPERDIN DEFICIENCY; Properdin deficiency, type 1; PROPERDIN DEFICIENCY, TYPE I; Properdin P factor deficiency
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Gene (location): CFP (Xp11.23)
 
Monarch Initiative: MONDO:0010713
OMIM®: 312060
Orphanet: ORPHA2966

Definition

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]

Clinical features

From HPO
Dysfunctional alternative complement pathway
MedGen UID:
326496
Concept ID:
C1839458
Finding
An abnormality of the functioning of any aspect of the alternative complement pathway.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProperdin deficiency, X-linked

Recent clinical studies

Etiology

Staley KG, Kuehni CE, Strippoli MP, McNally T, Silverman M, Stover C
Pediatr Allergy Immunol 2010 Jun;21(4 Pt 2):e787-91. Epub 2010 Mar 19 doi: 10.1111/j.1399-3038.2009.00979.x. PMID: 20337960
Schejbel L, Rosenfeldt V, Marquart H, Valerius NH, Garred P
Clin Immunol 2009 Jun;131(3):456-62. Epub 2009 Mar 27 doi: 10.1016/j.clim.2009.02.008. PMID: 19328743
Agardi D, Pigg M, Sjöholm AG, Truedsson L, Späth PJ, Kuijper EJ, Tijssen CC, Tranebjaerg L, Gustavson KH, Ulfendahl PJ
Exp Clin Immunogenet 1995;12(2):111-4. PMID: 7576715
Wadelius C, Pigg M, Sundvall M, Sjöholm AG, Goonewardena P, Kuijper EJ, Tijssen CC, Jansz A, Späth PJ, Schaad UB
Clin Genet 1992 Jul;42(1):8-12. doi: 10.1111/j.1399-0004.1992.tb03126.x. PMID: 1516231
Sjöholm AG, Braconier JH, Söderström C
Clin Exp Immunol 1982 Nov;50(2):291-7. PMID: 7151327Free PMC Article

Diagnosis

Schejbel L, Rosenfeldt V, Marquart H, Valerius NH, Garred P
Clin Immunol 2009 Jun;131(3):456-62. Epub 2009 Mar 27 doi: 10.1016/j.clim.2009.02.008. PMID: 19328743
Kölble K, Cant AJ, Fay AC, Whaley K, Schlesinger M, Reid KB
J Clin Invest 1993 Jan;91(1):99-102. doi: 10.1172/JCI116207. PMID: 8423238Free PMC Article

Therapy

Cunliffe NA, Snowden N, Dunbar EM, Haeney MR
J Infect 1995 Jul;31(1):67-8. doi: 10.1016/s0163-4453(95)91550-8. PMID: 8522838

Clinical prediction guides

Goonewardena P, Sjöholm AG, Nilsson LA, Pettersson U
Genomics 1988 Feb;2(2):115-8. doi: 10.1016/0888-7543(88)90092-4. PMID: 2900806

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