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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.
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.
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.

Term Hierarchy

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.

Professional guidelines

PubMed

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
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
Zöller B, García de Frutos P, Dahlbäck B
Blood 1995 Jun 15;85(12):3524-31. PMID: 7780139

Recent clinical studies

Etiology

Zhou D, King EH, Rothwell S, Krystufkova O, Notarnicola A, Coss S, Abdul-Aziz R, Miller KE, Dang A, Yu GR, Drew J, Lundström E, Pachman LM, Mamyrova G, Curiel RV, De Paepe B, De Bleecker JL, Payton A, Ollier W, O'Hanlon TP, Targoff IN, Flegel WA, Sivaraman V, Oberle E, Akoghlanian S, Driest K, Spencer CH, Wu YL, Nagaraja HN, Ardoin SP, Chinoy H, Rider LG, Miller FW, Lundberg IE, Padyukov L, Vencovský J, Lamb JA, Yu CY; for MYOGEN Investigators
Ann Rheum Dis 2023 Feb;82(2):235-245. Epub 2022 Sep 28 doi: 10.1136/ard-2022-222935. PMID: 36171069Free PMC Article
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
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
Lewis LA, Ram S
FEBS Lett 2020 Aug;594(16):2670-2694. Epub 2020 Mar 3 doi: 10.1002/1873-3468.13760. PMID: 32058583
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348

Diagnosis

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
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
Hepner M, Karlaftis V
Methods Mol Biol 2013;992:373-81. doi: 10.1007/978-1-62703-339-8_30. PMID: 23546730
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348
Yunis EJ, Awdeh Z, Raum D, Alper CA
Clin Haematol 1983 Oct;12(3):641-80. doi: 10.1016/s0308-2261(83)80004-6. PMID: 6227438

Therapy

de Graaf H, Payne RO, Taylor I, Miura K, Long CA, Elias SC, Zaric M, Minassian AM, Silk SE, Li L, Poulton ID, Baker M, Draper SJ, Gbesemete D, Brendish NJ, Martins F, Marini A, Mekhaiel D, Edwards NJ, Roberts R, Vekemans J, Moyle S, Faust SN, Berrie E, Lawrie AM, Hill F, Hill AVS, Biswas S
Front Immunol 2021;12:694759. Epub 2021 Jul 14 doi: 10.3389/fimmu.2021.694759. PMID: 34335606Free PMC Article
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
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
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
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348

Prognosis

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
Ries JI, Heß M, Nouri N, Wichelhaus TA, Göttig S, Falcone FH, Kraiczy P
Front Immunol 2022;13:942482. Epub 2022 Jul 26 doi: 10.3389/fimmu.2022.942482. PMID: 35958553Free PMC Article
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
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
Hors J, Gony J
Adv Nephrol Necker Hosp 1986;15:329-51. PMID: 3006451

Clinical prediction guides

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
Laich A, Patel H, Zarantonello A, Sim RB, Inal JM
Immunobiology 2022 May;227(3):152225. Epub 2022 May 5 doi: 10.1016/j.imbio.2022.152225. PMID: 35567980
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
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
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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