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Decreased circulating complement C4 concentration

MedGen UID:
893114
Concept ID:
C4073169
Finding
Synonym: Decreased serum complement C4
 
HPO: HP:0045042

Definition

Concentration of the complement component C4 in the blood circulation below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating complement C4 concentration

Conditions with this feature

Hereditary angioedema type 1
MedGen UID:
403466
Concept ID:
C2717906
Disease or Syndrome
A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Complement component 4a deficiency
MedGen UID:
482272
Concept ID:
C3280642
Finding
Concentration of the complement component C4a in the blood circulation below the lower limit of normal.
Autosomal systemic lupus erythematosus type 16
MedGen UID:
482372
Concept ID:
C3280742
Disease or Syndrome
About a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nPeople with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.\n\nSLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nSystemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
MedGen UID:
816258
Concept ID:
C3809928
Disease or Syndrome
Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859.
Systemic lupus erythematosus 17
MedGen UID:
1804329
Concept ID:
C5676884
Disease or Syndrome
Systemic lupus erythematosus-17 (SLE17) is an X-linked dominant autoimmune disorder characterized by onset of systemic autoinflammatory symptoms in the first decades of life. Only affected females have been reported. Features may include classic features of SLE, such as malar rash and arthralgias, or can include less common entities such as hemiplegia and neuromyelitis optica (NMO). Laboratory studies show the presence of autoantibodies and enhanced NFKB (164011) signaling, the latter being consistent with a gain-of-function effect (Brown et al., 2022). For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see 152700.

Professional guidelines

Recent clinical studies

Etiology

Nielsen TL, Pilely K, Lund KP, Warming PE, Plesner LL, Iversen KK, Garred P
Hemodial Int 2021 Oct;25(4):479-488. Epub 2021 Jun 16 doi: 10.1111/hdi.12948. PMID: 34132045
Memon N, Griffin IJ, Lee CW, Herdt A, Weinberger BI, Hegyi T, Carayannopoulos MO, Aleksunes LM, Guo GL
J Matern Fetal Neonatal Med 2020 Mar;33(6):987-992. Epub 2018 Oct 29 doi: 10.1080/14767058.2018.1513483. PMID: 30122083Free PMC Article
Zhang C, Zhang J, Liu W, Chen X, Liu Z, Zhou Z
Surg Obes Relat Dis 2019 Sep;15(9):1455-1463. Epub 2019 May 22 doi: 10.1016/j.soard.2019.05.021. PMID: 31548002
Baccarelli A, Mocarelli P, Patterson DG Jr, Bonzini M, Pesatori AC, Caporaso N, Landi MT
Environ Health Perspect 2002 Dec;110(12):1169-73. doi: 10.1289/ehp.021101169. PMID: 12460794Free PMC Article
Gauperaa T, Giercksky KE, Revhaug A, Rekvig OP
Br J Surg 1985 Jan;72(1):59-62. doi: 10.1002/bjs.1800720123. PMID: 3967133

Diagnosis

Zhang C, Zhang J, Liu W, Chen X, Liu Z, Zhou Z
Surg Obes Relat Dis 2019 Sep;15(9):1455-1463. Epub 2019 May 22 doi: 10.1016/j.soard.2019.05.021. PMID: 31548002
Agostinis C, Stampalija T, Tannetta D, Loganes C, Vecchi Brumatti L, De Seta F, Celeghini C, Radillo O, Sargent I, Tedesco F, Bulla R
Am J Reprod Immunol 2016 Dec;76(6):475-481. Epub 2016 Sep 26 doi: 10.1111/aji.12586. PMID: 27666323
Senbagavalli P, Geetha ST, Venkatesan P, Ramanathan VD
J Clin Immunol 2009 Sep;29(5):674-80. Epub 2009 May 27 doi: 10.1007/s10875-009-9301-0. PMID: 19472039
Baccarelli A, Mocarelli P, Patterson DG Jr, Bonzini M, Pesatori AC, Caporaso N, Landi MT
Environ Health Perspect 2002 Dec;110(12):1169-73. doi: 10.1289/ehp.021101169. PMID: 12460794Free PMC Article
Welch TR
Nephron 2001 Jul;88(3):199-204. doi: 10.1159/000045990. PMID: 11423749

Therapy

Nielsen TL, Pilely K, Lund KP, Warming PE, Plesner LL, Iversen KK, Garred P
Hemodial Int 2021 Oct;25(4):479-488. Epub 2021 Jun 16 doi: 10.1111/hdi.12948. PMID: 34132045
Blomquist S, Gustafsson V, Manolopoulos T, Pierre L
Perfusion 2009 Jan;24(1):13-7. doi: 10.1177/0267659109106730. PMID: 19567543
Baccarelli A, Mocarelli P, Patterson DG Jr, Bonzini M, Pesatori AC, Caporaso N, Landi MT
Environ Health Perspect 2002 Dec;110(12):1169-73. doi: 10.1289/ehp.021101169. PMID: 12460794Free PMC Article
Bengtsson A, Svalander CT, Mölne J, Rydberg L, Breimer ME
Xenotransplantation 1998 Aug;5(3):176-83. doi: 10.1111/j.1399-3089.1998.tb00025.x. PMID: 9741455
Lumb EM, McHardy GJ, Kay AB
Br J Clin Pharmacol 1979 Jul;8(1):65-74. doi: 10.1111/j.1365-2125.1979.tb05911.x. PMID: 121884Free PMC Article

Prognosis

Zhou H, Li B, Li J, Wu T, Jin X, Yuan R, Shi P, Zhou Y, Li L, Yu F
Mediators Inflamm 2019;2019:8450947. Epub 2019 Mar 17 doi: 10.1155/2019/8450947. PMID: 31007604Free PMC Article
Agostinis C, Stampalija T, Tannetta D, Loganes C, Vecchi Brumatti L, De Seta F, Celeghini C, Radillo O, Sargent I, Tedesco F, Bulla R
Am J Reprod Immunol 2016 Dec;76(6):475-481. Epub 2016 Sep 26 doi: 10.1111/aji.12586. PMID: 27666323
Senbagavalli P, Geetha ST, Venkatesan P, Ramanathan VD
J Clin Immunol 2009 Sep;29(5):674-80. Epub 2009 May 27 doi: 10.1007/s10875-009-9301-0. PMID: 19472039
Baccarelli A, Mocarelli P, Patterson DG Jr, Bonzini M, Pesatori AC, Caporaso N, Landi MT
Environ Health Perspect 2002 Dec;110(12):1169-73. doi: 10.1289/ehp.021101169. PMID: 12460794Free PMC Article
Hed J
Acta Paediatr Suppl 1998 Jun;424:37-40. doi: 10.1111/j.1651-2227.1998.tb01231.x. PMID: 9736216

Clinical prediction guides

Memon N, Griffin IJ, Lee CW, Herdt A, Weinberger BI, Hegyi T, Carayannopoulos MO, Aleksunes LM, Guo GL
J Matern Fetal Neonatal Med 2020 Mar;33(6):987-992. Epub 2018 Oct 29 doi: 10.1080/14767058.2018.1513483. PMID: 30122083Free PMC Article
Zhang C, Zhang J, Liu W, Chen X, Liu Z, Zhou Z
Surg Obes Relat Dis 2019 Sep;15(9):1455-1463. Epub 2019 May 22 doi: 10.1016/j.soard.2019.05.021. PMID: 31548002
Zhou H, Li B, Li J, Wu T, Jin X, Yuan R, Shi P, Zhou Y, Li L, Yu F
Mediators Inflamm 2019;2019:8450947. Epub 2019 Mar 17 doi: 10.1155/2019/8450947. PMID: 31007604Free PMC Article
Agostinis C, Stampalija T, Tannetta D, Loganes C, Vecchi Brumatti L, De Seta F, Celeghini C, Radillo O, Sargent I, Tedesco F, Bulla R
Am J Reprod Immunol 2016 Dec;76(6):475-481. Epub 2016 Sep 26 doi: 10.1111/aji.12586. PMID: 27666323
Gauperaa T, Giercksky KE, Revhaug A, Rekvig OP
Br J Surg 1985 Jan;72(1):59-62. doi: 10.1002/bjs.1800720123. PMID: 3967133

Recent systematic reviews

Baccarelli A, Mocarelli P, Patterson DG Jr, Bonzini M, Pesatori AC, Caporaso N, Landi MT
Environ Health Perspect 2002 Dec;110(12):1169-73. doi: 10.1289/ehp.021101169. PMID: 12460794Free PMC Article

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