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Complement factor b deficiency(CFBD)

MedGen UID:
816280
•Concept ID:
C3809950
•
Disease or Syndrome
Synonyms: CFBD; COMPLEMENT FACTOR B DEFICIENCY
 
Gene (location): CFB (6p21.33)
 
Monarch Initiative: MONDO:0014255
OMIM®: 615561

Clinical features

From HPO
Meningitis
MedGen UID:
6298
•Concept ID:
C0025289
•
Disease or Syndrome
Inflammation of the meninges.
See: Feature record | Search on this feature
Peritonitis
MedGen UID:
14697
•Concept ID:
C0031154
•
Pathologic Function
Inflammation of the peritoneum.
See: Feature record | Search on this feature
Pneumonia
MedGen UID:
10813
•Concept ID:
C0032285
•
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
See: Feature record | Search on this feature
Recurrent bacterial infections
MedGen UID:
334943
•Concept ID:
C1844383
•
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
See: Feature record | Search on this feature
Recurrent meningococcal disease
MedGen UID:
369692
•Concept ID:
C1970263
•
Finding
Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.
See: Feature record | Search on this feature
Decreased circulating complement factor B concentration
MedGen UID:
867275
•Concept ID:
C4021636
•
Finding
Concentration of the complement component factor B in the blood circulation below the lower limit of normal.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population.
Seo JY, Shin JG, Youn BJ, Namgoong S, Cheong HS, Kim LH, Kim JO, Shin HD, Kim YJ
BMC Med Genet 2020 Dec 17;21(1):241. doi: 10.1186/s12881-020-01177-w. PMID: 33334325Free PMC Article
The alternative pathway is critical for pathogenic complement activation in endotoxin- and diet-induced atherosclerosis in low-density lipoprotein receptor-deficient mice.
Malik TH, Cortini A, Carassiti D, Boyle JJ, Haskard DO, Botto M
Circulation 2010 Nov 9;122(19):1948-56. Epub 2010 Oct 25 doi: 10.1161/CIRCULATIONAHA.110.981365. PMID: 20974996Free PMC Article
Hypocomplementemia in the absence of autoantibodies in women with recurrent pregnancy loss.
Micheloud D, Sarmiento E, Teijeiro R, Jensen J, Rodríguez Molina JJ, Fernández-Cruz E, Carbone J
Allergol Immunopathol (Madr) 2007 May-Jun;35(3):90-4. doi: 10.1157/13106775. PMID: 17594871
Phenotypes of complement knockouts.
Holers VM
Immunopharmacology 2000 Aug;49(1-2):125-31. doi: 10.1016/s0162-3109(00)80298-2. PMID: 10904112
Recurrent meningococcal meningitis due to partial complement defects and poor anti-meningococcal antibody response.
Herva E, Leinonen M, Käyhty H, Mäkelä PH, Vetoniemi-Korhonen SL
J Infect 1983 Jan;6(1):55-60. doi: 10.1016/s0163-4453(83)95636-0. PMID: 6411822

Diagnosis

A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population.
Seo JY, Shin JG, Youn BJ, Namgoong S, Cheong HS, Kim LH, Kim JO, Shin HD, Kim YJ
BMC Med Genet 2020 Dec 17;21(1):241. doi: 10.1186/s12881-020-01177-w. PMID: 33334325Free PMC Article
Targeting the Type II Secretion System: Development, Optimization, and Validation of a High-Throughput Screen for the Identification of Small Molecule Inhibitors.
Waack U, Johnson TL, Chedid K, Xi C, Simmons LA, Mobley HLT, Sandkvist M
Front Cell Infect Microbiol 2017;7:380. Epub 2017 Aug 28 doi: 10.3389/fcimb.2017.00380. PMID: 28894700Free PMC Article
Genetic deficiencies of the complement system and association with disease--early components.
Kölble K, Reid KB
Int Rev Immunol 1993;10(1):17-36. doi: 10.3109/08830189309051169. PMID: 8340675

Therapy

A previously unrecognized role of C3a in proteinuric progressive nephropathy.
Morigi M, Locatelli M, Rota C, Buelli S, Corna D, Rizzo P, Abbate M, Conti D, Perico L, Longaretti L, Benigni A, Zoja C, Remuzzi G
Sci Rep 2016 Jun 27;6:28445. doi: 10.1038/srep28445. PMID: 27345360Free PMC Article
Complement deficiency ameliorates collagen-induced arthritis in mice.
Hietala MA, Jonsson IM, Tarkowski A, Kleinau S, Pekna M
J Immunol 2002 Jul 1;169(1):454-9. doi: 10.4049/jimmunol.169.1.454. PMID: 12077276

Prognosis

The complement system in chronic lymphocytic leukemia: a possible role in autoimmune manifestations.
Lugassy G, Schlesinger M
Leuk Lymphoma 1996 May;21(5-6):501-3. doi: 10.3109/10428199609093450. PMID: 9172817
Activation of the alternate complement pathway in Staph. aureus infective endocarditis and its relationship to thrombocytopenia, coagulation abnormalities, and acute glomerulonephritis.
O'Connor DT, Weisman MH, Fierer J
Clin Exp Immunol 1978 Nov;34(2):179-87. PMID: 737901Free PMC Article

Clinical prediction guides

A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population.
Seo JY, Shin JG, Youn BJ, Namgoong S, Cheong HS, Kim LH, Kim JO, Shin HD, Kim YJ
BMC Med Genet 2020 Dec 17;21(1):241. doi: 10.1186/s12881-020-01177-w. PMID: 33334325Free PMC Article
Hypocomplementemia in the absence of autoantibodies in women with recurrent pregnancy loss.
Micheloud D, Sarmiento E, Teijeiro R, Jensen J, Rodríguez Molina JJ, Fernández-Cruz E, Carbone J
Allergol Immunopathol (Madr) 2007 May-Jun;35(3):90-4. doi: 10.1157/13106775. PMID: 17594871
Complement deficiency ameliorates collagen-induced arthritis in mice.
Hietala MA, Jonsson IM, Tarkowski A, Kleinau S, Pekna M
J Immunol 2002 Jul 1;169(1):454-9. doi: 10.4049/jimmunol.169.1.454. PMID: 12077276
Phenotypes of complement knockouts.
Holers VM
Immunopharmacology 2000 Aug;49(1-2):125-31. doi: 10.1016/s0162-3109(00)80298-2. PMID: 10904112
Genetic deficiencies of the complement system and association with disease--early components.
Kölble K, Reid KB
Int Rev Immunol 1993;10(1):17-36. doi: 10.3109/08830189309051169. PMID: 8340675

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