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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
Extended MHC haplotypes in 21-hydroxylase-deficiency congenital adrenal hyperplasia: shared genotypes in unrelated patients.
Fleischnick E, Awdeh ZL, Raum D, Granados J, Alosco SM, Crigler JF Jr, Gerald PS, Giles CM, Yunis EJ, Alper CA
Lancet 1983 Jan 22;1(8317):152-6. doi: 10.1016/s0140-6736(83)92757-5. PMID: 6130199

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
Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome.
Marino R, Moresco A, Perez Garrido N, Ramirez P, Belgorosky A
Front Endocrinol (Lausanne) 2022;13:803226. Epub 2022 Feb 25 doi: 10.3389/fendo.2022.803226. PMID: 35282436Free PMC Article
Complement interactions with the pathogenic Neisseriae: clinical features, deficiency states, and evasion mechanisms.
Lewis LA, Ram S
FEBS Lett 2020 Aug;594(16):2670-2694. Epub 2020 Mar 3 doi: 10.1002/1873-3468.13760. PMID: 32058583
Vitamin K-Dependent Protein S: Beyond the Protein C Pathway.
Dahlbäck B
Semin Thromb Hemost 2018 Mar;44(2):176-184. Epub 2017 Sep 13 doi: 10.1055/s-0037-1604092. PMID: 28905350
Drug-induced immune-complex disease.
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348

Diagnosis

Human Complement C4B Allotypes and Deficiencies in Selected Cases With Autoimmune Diseases.
Zhou D, Rudnicki M, Chua GT, Lawrance SK, Zhou B, Drew JL, Barbar-Smiley F, Armstrong TK, Hilt ME, Birmingham DJ, Passler W, Auletta JJ, Bowden SA, Hoffman RP, Wu YL, Jarjour WN, Mok CC, Ardoin SP, Lau YL, Yu CY
Front Immunol 2021;12:739430. Epub 2021 Oct 26 doi: 10.3389/fimmu.2021.739430. PMID: 34764957Free PMC Article
Inherited Classical and Alternative Pathway Complement Deficiencies in Children: A Single Center Experience.
Genel F, Erdem SB, Gülez N, Karaman S, Nacaroglu HT, Skattum L, Truedsson L
Iran J Immunol 2018 Dec;15(4):309-320. doi: 10.22034/IJI.2018.39400. PMID: 30593745
Protein S.
Hepner M, Karlaftis V
Methods Mol Biol 2013;992:373-81. doi: 10.1007/978-1-62703-339-8_30. PMID: 23546730
Diagnosing protein S deficiency: analytical considerations.
Persson KE, Dahlbäck B, Hillarp A
Clin Lab 2003;49(3-4):103-10. PMID: 12705691
Drug-induced immune-complex disease.
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348

Therapy

A case report of complement C4B deficiency in a patient with steroid and IVIG-refractory anti-NMDA receptor encephalitis.
Chua GT, Zhou D, Ho ACC, Chan SHS, Yu CY, Lau YL
BMC Neurol 2020 Sep 8;20(1):339. doi: 10.1186/s12883-020-01906-x. PMID: 32900365Free PMC Article
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Lao Q, Jardin MD, Jayakrishnan R, Ernst M, Merke DP
Hum Genet 2018 Dec;137(11-12):955-960. Epub 2018 Nov 21 doi: 10.1007/s00439-018-1959-z. PMID: 30465166Free PMC Article
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
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
Host-Specific Serum Factors Control the Development and Survival of Schistosoma mansoni.
Anisuzzaman, Frahm S, Prodjinotho UF, Bhattacharjee S, Verschoor A, Prazeres da Costa C
Front Immunol 2021;12:635622. Epub 2021 Apr 23 doi: 10.3389/fimmu.2021.635622. PMID: 33968028Free PMC Article
Inherited Classical and Alternative Pathway Complement Deficiencies in Children: A Single Center Experience.
Genel F, Erdem SB, Gülez N, Karaman S, Nacaroglu HT, Skattum L, Truedsson L
Iran J Immunol 2018 Dec;15(4):309-320. doi: 10.22034/IJI.2018.39400. PMID: 30593745
Genetic, molecular and functional analyses of complement factor I deficiency.
Nilsson SC, Trouw LA, Renault N, Miteva MA, Genel F, Zelazko M, Marquart H, Muller K, Sjöholm AG, Truedsson L, Villoutreix BO, Blom AM
Eur J Immunol 2009 Jan;39(1):310-23. doi: 10.1002/eji.200838702. PMID: 19065647
Diagnosing protein S deficiency: analytical considerations.
Persson KE, Dahlbäck B, Hillarp A
Clin Lab 2003;49(3-4):103-10. PMID: 12705691

Clinical prediction guides

Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.
Hallam TM, Sharp SJ, Andreadi A, Kavanagh D
Immunobiology 2023 Sep;228(5):152410. Epub 2023 Jun 5 doi: 10.1016/j.imbio.2023.152410. PMID: 37478687
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
Genetic, molecular and functional analyses of complement factor I deficiency.
Nilsson SC, Trouw LA, Renault N, Miteva MA, Genel F, Zelazko M, Marquart H, Muller K, Sjöholm AG, Truedsson L, Villoutreix BO, Blom AM
Eur J Immunol 2009 Jan;39(1):310-23. doi: 10.1002/eji.200838702. PMID: 19065647
CD46: expanding beyond complement regulation.
Riley-Vargas RC, Gill DB, Kemper C, Liszewski MK, Atkinson JP
Trends Immunol 2004 Sep;25(9):496-503. doi: 10.1016/j.it.2004.07.004. PMID: 15324743
The role of complement in the host's defense against Haemophilus influenzae.
Winkelstein JA, Moxon ER
J Infect Dis 1992 Jun;165 Suppl 1:S62-5. doi: 10.1093/infdis/165-supplement_1-s62. PMID: 1588179

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      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
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed

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