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. See: This record X-linked recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

See: Feature record | Search on this feature

Abnormality of metabolism/homeostasis

MedGen UID:: 867398
•Concept ID:: C4021768
•: Finding

See: Feature record | Search on this feature

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Abnormality of metabolism/homeostasis
- Abnormality of metabolism/homeostasis
Abnormality of the immune system
- Dysfunctional alternative complement pathway

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVProperdin deficiency, X-linked

Immunodeficiency due to a complement regulatory deficiency
- Properdin deficiency, X-linked

Recent clinical studies

Etiology

Properdin in childhood and its association with wheezing and atopy.

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

Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome.

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

Fluorescent detection of microsatellite polymorphisms: properdin deficiency linked to PFC microsatellite.

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

Linkage analysis in properdin deficiency families: refined location in proximal Xp.

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

Properdin deficiency in a family with fulminant meningococcal infections.

Sjöholm AG, Braconier JH, Söderström C
Clin Exp Immunol 1982 Nov;50(2):291-7. PMID: 7151327 Free PMC Article

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Diagnosis

Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome.

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

Carrier detection in families with properdin deficiency by microsatellite haplotyping.

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: 8423238 Free PMC Article

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