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Complement component 4b deficiency

MedGen UID:
482271
•Concept ID:
C3280641
•
Finding
Synonyms: Decreased circulating complement C4b concentration; 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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Recurrent sinusitis
MedGen UID:
107919
•Concept ID:
C0581354
•
Disease or Syndrome
A recurrent form of sinusitis.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Meningitis
MedGen UID:
6298
•Concept ID:
C0025289
•
Disease or Syndrome
Inflammation of the meninges.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Complement component 4b deficiency
MedGen UID:
482271
•Concept ID:
C3280641
•
Finding
Concentration of the complement component C4b in the blood circulation below the lower limit of normal.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVComplement component 4b deficiency

Conditions with this feature

Complement component 4b deficiency
MedGen UID:
482271
•Concept ID:
C3280641
•
Finding
Concentration of the complement component C4b in the blood circulation below the lower limit of normal.
See: Condition Record
Complement component 4b deficiency

Professional guidelines

PubMed

Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency.
Guerra-Junior G, Grumach AS, de Lemos-Marini SH, Kirschfink M, Condino Neto A, de Araujo M, De Mello MP
Clin Exp Immunol 2009 Feb;155(2):182-8. doi: 10.1111/j.1365-2249.2008.03838.x. PMID: 19137635Free PMC Article
Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus.
Wu YL, Yang Y, Chung EK, Zhou B, Kitzmiller KJ, Savelli SL, Nagaraja HN, Birmingham DJ, Tsao BP, Rovin BH, Hebert LA, Yu CY
Cytogenet Genome Res 2008;123(1-4):131-41. Epub 2009 Mar 11 doi: 10.1159/000184700. PMID: 19287147Free PMC Article
Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease.
Zöller B, García de Frutos P, Dahlbäck B
Blood 1995 Jun 15;85(12):3524-31. PMID: 7780139

Recent clinical studies

Etiology

Dysregulation of Protein S in COVID-19.
Sim MMS, Wood JP
Best Pract Res Clin Haematol 2022 Sep;35(3):101376. Epub 2022 Aug 23 doi: 10.1016/j.beha.2022.101376. PMID: 36494145Free PMC Article
Peripheral complement interactions with amyloid β peptide in Alzheimer's disease: Polymorphisms, structure, and function of complement receptor 1.
Johansson JU, Brubaker WD, Javitz H, Bergen AW, Nishita D, Trigunaite A, Crane A, Ceballos J, Mastroeni D, Tenner AJ, Sabbagh M, Rogers J
Alzheimers Dement 2018 Nov;14(11):1438-1449. Epub 2018 May 21 doi: 10.1016/j.jalz.2018.04.003. PMID: 29792870Free PMC Article
A review of the Chido/Rodgers blood group.
Mougey R
Immunohematology 2010;26(1):30-8. PMID: 20795316
Drug-induced immune-complex disease.
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348
Origin of the fourth component of complement related Chido and Rodgers blood group antigens.
Atkinson JP, Chan AC, Karp DR, Killion CC, Brown R, Spinella D, Shreffler DC, Levine RP
Complement 1988;5(2):65-76. doi: 10.1159/000463037. PMID: 2967744

Diagnosis

Protein S.
Hepner M, Karlaftis V
Methods Mol Biol 2013;992:373-81. doi: 10.1007/978-1-62703-339-8_30. PMID: 23546730
Analytical considerations for free protein S assays in protein S deficiency.
Persson KE, Hillarp A, Dahlbäck B
Thromb Haemost 2001 Nov;86(5):1144-7. PMID: 11816698
Homozygous C4A deficiency in systemic lupus erythematosus: analysis of patients from a defined population.
Sturfelt G, Truedsson L, Johansen P, Jonsson H, Nived O, Sjöholm AG
Clin Genet 1990 Dec;38(6):427-33. doi: 10.1111/j.1399-0004.1990.tb03608.x. PMID: 2289315
HLA class I-, complement C4- and 21-hydroxylase probes in the genetic analysis of 21-hydroxylase deficiency.
Kochhan L, Janssen S, Knorr D, Olek K, Bidlingmaier F
J Clin Chem Clin Biochem 1990 Jun;28(6):413-7. doi: 10.1515/cclm.1990.28.6.413. PMID: 2212957
Drug-induced immune-complex disease.
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348

Therapy

7th International Immunoglobulin Conference: Mechanisms of action.
Basta M, Branch DR
Clin Exp Immunol 2014 Dec;178 Suppl 1(Suppl 1):87-8. doi: 10.1111/cei.12523. PMID: 25546774Free PMC Article
Coagulation inhibitor substitution during sepsis.
Fourrier F, Jourdain M, Tournois A, Caron C, Goudemand J, Chopin C
Intensive Care Med 1995 Nov;21 Suppl 2:S264-8. doi: 10.1007/BF01740765. PMID: 8636534
Some clotting factors in plasma during danazol therapy: free and total protein S, but not C4b-binding protein, are elevated by danazol therapy.
Thorisdottir H, Evans JA, Schwartz HJ, Comp P, Haluschak J, Ratnoff OD
J Lab Clin Med 1992 Jun;119(6):698-701. PMID: 1534346
Complement system protein C4 and susceptibility to hydralazine-induced systemic lupus erythematosus.
Speirs C, Fielder AH, Chapel H, Davey NJ, Batchelor JR
Lancet 1989 Apr 29;1(8644):922-4. doi: 10.1016/s0140-6736(89)92506-3. PMID: 2565418
Drug-induced immune-complex disease.
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348

Prognosis

Elevated expression of complement factor I in lung cancer cells associates with shorter survival-Potentially via non-canonical mechanism.
Felberg A, Bieńkowski M, Stokowy T, Myszczyński K, Polakiewicz Z, Kitowska K, Sądej R, Mohlin F, Kuźniewska A, Kowalska D, Stasiłojć G, Jongerius I, Spaapen R, Mesa-Guzman M, Montuenga LM, Blom AM, Pio R, Okrój M
Transl Res 2024 Jul;269:1-13. Epub 2024 Feb 22 doi: 10.1016/j.trsl.2024.02.003. PMID: 38395390
Analytical considerations for free protein S assays in protein S deficiency.
Persson KE, Hillarp A, Dahlbäck B
Thromb Haemost 2001 Nov;86(5):1144-7. PMID: 11816698
Acquired protein S deficiency in a patient with systemic lupus erythematosus causing central retinal vein thrombosis.
Prince HM, Thurlow PJ, Buchanan RC, Ibrahim KM, Neeson PJ
J Clin Pathol 1995 Apr;48(4):387-9. doi: 10.1136/jcp.48.4.387. PMID: 7615865Free PMC Article
Association of Henoch-Schönlein purpura glomerulonephritis with C4B deficiency.
Ault BH, Stapleton FB, Rivas ML, Waldo FB, Roy S 3rd, McLean RH, Bin JA, Wyatt RJ
J Pediatr 1990 Nov;117(5):753-5. doi: 10.1016/s0022-3476(05)83336-0. PMID: 2231209
C4 isotype deficiency in IgA nephropathy.
Welch TR, Berry A, Beischel LS
Pediatr Nephrol 1987 Apr;1(2):136-9. doi: 10.1007/BF00849283. PMID: 3153269

Clinical prediction guides

Peripheral complement interactions with amyloid β peptide in Alzheimer's disease: Polymorphisms, structure, and function of complement receptor 1.
Johansson JU, Brubaker WD, Javitz H, Bergen AW, Nishita D, Trigunaite A, Crane A, Ceballos J, Mastroeni D, Tenner AJ, Sabbagh M, Rogers J
Alzheimers Dement 2018 Nov;14(11):1438-1449. Epub 2018 May 21 doi: 10.1016/j.jalz.2018.04.003. PMID: 29792870Free PMC Article
C4b-binding protein (C4BP) activates B cells through the CD40 receptor.
Brodeur SR, Angelini F, Bacharier LB, Blom AM, Mizoguchi E, Fujiwara H, Plebani A, Notarangelo LD, Dahlback B, Tsitsikov E, Geha RS
Immunity 2003 Jun;18(6):837-48. doi: 10.1016/s1074-7613(03)00149-3. PMID: 12818164
Coagulation inhibitors in pulmonary cancer patients.
Kemkes-Matthes B, Plusczyk T, Lasch HG
Thromb Res 1992 Jan 1;65(1):85-94. doi: 10.1016/0049-3848(92)90228-3. PMID: 1318586
C4 isotype deficiency in IgA nephropathy.
Welch TR, Berry A, Beischel LS
Pediatr Nephrol 1987 Apr;1(2):136-9. doi: 10.1007/BF00849283. PMID: 3153269
Partial C4 deficiency in subacute sclerosing panencephalitis.
Rittner C, Meier EM, Stradmann B, Giles CM, Köchling R, Mollenhauer E, Kreth HW
Immunogenetics 1984;20(4):407-15. doi: 10.1007/BF00345615. PMID: 6490109

Supplemental Content

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    • ClinVar
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      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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