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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.
Peritonitis
MedGen UID:
14697
Concept ID:
C0031154
Pathologic Function
Inflammation of the peritoneum.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
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.
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.

Recent clinical studies

Etiology

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
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
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
Holers VM
Immunopharmacology 2000 Aug;49(1-2):125-31. doi: 10.1016/s0162-3109(00)80298-2. PMID: 10904112
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

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
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
Kölble K, Reid KB
Int Rev Immunol 1993;10(1):17-36. doi: 10.3109/08830189309051169. PMID: 8340675

Therapy

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
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

Lugassy G, Schlesinger M
Leuk Lymphoma 1996 May;21(5-6):501-3. doi: 10.3109/10428199609093450. PMID: 9172817
O'Connor DT, Weisman MH, Fierer J
Clin Exp Immunol 1978 Nov;34(2):179-87. PMID: 737901Free PMC Article

Clinical prediction guides

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
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
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
Holers VM
Immunopharmacology 2000 Aug;49(1-2):125-31. doi: 10.1016/s0162-3109(00)80298-2. PMID: 10904112
Kölble K, Reid KB
Int Rev Immunol 1993;10(1):17-36. doi: 10.3109/08830189309051169. PMID: 8340675

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