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Decreased circulating complement C4b concentration

MedGen UID:
482271
Concept ID:
C3280641
Finding
Synonyms: Complement component 4b deficiency; Decreased serum complement C4b
 
Gene (location): C4B (6p21.33)
 
HPO: HP:0045044
Monarch Initiative: MONDO:0013720
OMIM®: 614379

Definition

Concentration of the complement component C4b in the blood circulation below the lower limit of normal. [from HPO]

Clinical features

From HPO
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Chronic active hepatitis
MedGen UID:
105441
Concept ID:
C0520463
Disease or Syndrome
Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Meningitis
MedGen UID:
6298
Concept ID:
C0025289
Disease or Syndrome
Inflammation of the meninges.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Decreased circulating complement C4b concentration
MedGen UID:
482271
Concept ID:
C3280641
Finding
Concentration of the complement component C4b in the blood circulation below the lower limit of normal.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating complement C4b concentration

Conditions with this feature

Decreased circulating complement C4b concentration
MedGen UID:
482271
Concept ID:
C3280641
Finding
Concentration of the complement component C4b in the blood circulation below the lower limit of normal.

Recent clinical studies

Etiology

Marfaing-Koka A, Boyer-Neumann C, Wolf M, Leroy-Matheron C, Cynober T, Tchernia G
Nouv Rev Fr Hematol (1978) 1993 Aug;35(4):425-30. PMID: 8414963
Taylor F, Chang A, Ferrell G, Mather T, Catlett R, Blick K, Esmon CT
Blood 1991 Jul 15;78(2):357-63. PMID: 1829967

Diagnosis

Bayarri-Olmos R, Kirketerp-Moller N, Pérez-Alós L, Skjodt K, Skjoedt MO, Garred P
Front Immunol 2018;9:2238. Epub 2018 Sep 28 doi: 10.3389/fimmu.2018.02238. PMID: 30323815Free PMC Article

Therapy

Taylor F, Chang A, Ferrell G, Mather T, Catlett R, Blick K, Esmon CT
Blood 1991 Jul 15;78(2):357-63. PMID: 1829967

Clinical prediction guides

Bayarri-Olmos R, Kirketerp-Moller N, Pérez-Alós L, Skjodt K, Skjoedt MO, Garred P
Front Immunol 2018;9:2238. Epub 2018 Sep 28 doi: 10.3389/fimmu.2018.02238. PMID: 30323815Free PMC Article
Carlsson S, Dahlbäck B
J Biol Chem 2010 Oct 15;285(42):32038-46. Epub 2010 Aug 6 doi: 10.1074/jbc.M110.148452. PMID: 20693287Free PMC Article
Marfaing-Koka A, Boyer-Neumann C, Wolf M, Leroy-Matheron C, Cynober T, Tchernia G
Nouv Rev Fr Hematol (1978) 1993 Aug;35(4):425-30. PMID: 8414963

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