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C1Q deficiency 3(C1QD3)

MedGen UID:
1841059
Concept ID:
C5830423
Disease or Syndrome
Synonyms: C1q DEFICIENCY 3; C1Q DEFICIENCY 3; C1QD3
 
Gene (location): C1QC (1p36.12)
 
Monarch Initiative: MONDO:0958188
OMIM®: 620322

Definition

C1q deficiency (C1QD) is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see 152700) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by Topaloglu et al., 1996 and Vassallo et al., 2007). For a discussion of genetic heterogeneity of C1q deficiency, see 613652. [from OMIM]

Clinical features

From HPO
Antinuclear antibody positivity
MedGen UID:
101792
Concept ID:
C0151480
Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Recurrent bacterial meningitis
MedGen UID:
375697
Concept ID:
C1845604
Disease or Syndrome
An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.
Discoid lupus erythematosus
MedGen UID:
1811126
Concept ID:
C5574816
Disease or Syndrome
Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.
Decreased circulating C1q concentration
MedGen UID:
1841603
Concept ID:
C5826513
Finding
Concentration or activity of the C1q protein in the blood circulation below the lower limit of normal. C1q is the first component of the classical pathway and is composed of the C1qA chain, C1qB chain, and C1qC chain, which are encoded by C1qA, C1qB, and C1qC genes.
Neonatal omphalitis
MedGen UID:
510678
Concept ID:
C0158947
Disease or Syndrome
An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.

Professional guidelines

PubMed

Cunningham-Rundles C
Vox Sang 1986;51 Suppl 2:63-8. doi: 10.1111/j.1423-0410.1986.tb02010.x. PMID: 3490056

Recent clinical studies

Etiology

Otani IM, Banerji A
Immunol Allergy Clin North Am 2017 Aug;37(3):497-511. Epub 2017 May 15 doi: 10.1016/j.iac.2017.03.002. PMID: 28687105
Truedsson L
Mol Immunol 2015 Nov;68(1):14-9. Epub 2015 May 30 doi: 10.1016/j.molimm.2015.05.007. PMID: 26038300
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Ann Rheum Dis 2014 Sep;73(9):1601-6. Epub 2014 May 20 doi: 10.1136/annrheumdis-2014-205287. PMID: 24845390
Cicardi M, Zingale LC, Pappalardo E, Folcioni A, Agostoni A
Medicine (Baltimore) 2003 Jul;82(4):274-81. doi: 10.1097/01.md.0000085055.63483.09. PMID: 12861105
Englard S, Seifter S
Annu Rev Nutr 1986;6:365-406. doi: 10.1146/annurev.nu.06.070186.002053. PMID: 3015170

Diagnosis

McMurray JC, Schornack BJ, Weskamp AL, Park KJ, Pollock JD, Day WG, Brockshus AT, Beakes DE, Schwartz DJ, Mikita CP, Pittman LM
Allergy Asthma Proc 2024 Sep 1;45(5):305-309. doi: 10.2500/aap.2024.45.240050. PMID: 39294906Free PMC Article
Patel G, Pongracic JA
Allergy Asthma Proc 2019 Nov 1;40(6):441-445. doi: 10.2500/aap.2019.40.4267. PMID: 31690390
Otani IM, Banerji A
Immunol Allergy Clin North Am 2017 Aug;37(3):497-511. Epub 2017 May 15 doi: 10.1016/j.iac.2017.03.002. PMID: 28687105
Stegert M, Bock M, Trendelenburg M
Mol Immunol 2015 Sep;67(1):3-11. Epub 2015 Apr 3 doi: 10.1016/j.molimm.2015.03.007. PMID: 25846716
Guenther LC
J Am Acad Dermatol 1983 Dec;9(6):815-39. doi: 10.1016/s0190-9622(83)70195-7. PMID: 6315788

Therapy

Nabavi M, Bahrami S, Arshi S, Rezaeifar A, Bemanian MH, Fallahpour M, Shokri S, Tehrani H
Iran J Allergy Asthma Immunol 2021 Feb 11;20(1):120-124. doi: 10.18502/ijaai.v20i1.5419. PMID: 33639628
Ding H, Wang Z, Song W
Hum Exp Toxicol 2021 Jul;40(7):1153-1162. Epub 2021 Jan 27 doi: 10.1177/0960327121989412. PMID: 33501881
Otani IM, Banerji A
Immunol Allergy Clin North Am 2017 Aug;37(3):497-511. Epub 2017 May 15 doi: 10.1016/j.iac.2017.03.002. PMID: 28687105
Cicardi M, Zingale LC, Pappalardo E, Folcioni A, Agostoni A
Medicine (Baltimore) 2003 Jul;82(4):274-81. doi: 10.1097/01.md.0000085055.63483.09. PMID: 12861105
Rynes RI
Clin Rheum Dis 1982 Apr;8(1):29-47. PMID: 6288318

Prognosis

Magrini E, Di Marco S, Mapelli SN, Perucchini C, Pasqualini F, Donato A, Guevara Lopez ML, Carriero R, Ponzetta A, Colombo P, Cananzi F, Supino D, Reis ES, Peano C, Inforzato A, Jaillon S, Doni A, Lambris JD, Mantovani A, Garlanda C
Nat Cancer 2021 Feb;2(2):218-232. Epub 2021 Feb 18 doi: 10.1038/s43018-021-00173-0. PMID: 34505065Free PMC Article
Stegert M, Bock M, Trendelenburg M
Mol Immunol 2015 Sep;67(1):3-11. Epub 2015 Apr 3 doi: 10.1016/j.molimm.2015.03.007. PMID: 25846716
Jlajla H, Sellami MK, Sfar I, Laadhar L, Zerzeri Y, Abdelmoula MS, Gorgi Y, Dridi MF, Makni S
Immunobiology 2014 Mar;219(3):241-6. Epub 2013 Nov 6 doi: 10.1016/j.imbio.2013.10.010. PMID: 24331529
Nusinow SR, Zuraw BL, Curd JG
Med Clin North Am 1985 May;69(3):487-504. doi: 10.1016/s0025-7125(16)31028-8. PMID: 3892188
Guenther LC
J Am Acad Dermatol 1983 Dec;9(6):815-39. doi: 10.1016/s0190-9622(83)70195-7. PMID: 6315788

Clinical prediction guides

Miyata T, Horiuchi T
Allergol Int 2023 Jul;72(3):375-384. Epub 2023 May 9 doi: 10.1016/j.alit.2023.04.004. PMID: 37169642
Magrini E, Di Marco S, Mapelli SN, Perucchini C, Pasqualini F, Donato A, Guevara Lopez ML, Carriero R, Ponzetta A, Colombo P, Cananzi F, Supino D, Reis ES, Peano C, Inforzato A, Jaillon S, Doni A, Lambris JD, Mantovani A, Garlanda C
Nat Cancer 2021 Feb;2(2):218-232. Epub 2021 Feb 18 doi: 10.1038/s43018-021-00173-0. PMID: 34505065Free PMC Article
Hansen SW, Ohtani K, Roy N, Wakamiya N
Immunobiology 2016 Oct;221(10):1058-67. Epub 2016 Jun 2 doi: 10.1016/j.imbio.2016.05.012. PMID: 27377710
Carneiro-Sampaio M, Liphaus BL, Jesus AA, Silva CA, Oliveira JB, Kiss MH
J Clin Immunol 2008 May;28 Suppl 1:S34-41. Epub 2008 Apr 11 doi: 10.1007/s10875-008-9187-2. PMID: 18404362
Guenther LC
J Am Acad Dermatol 1983 Dec;9(6):815-39. doi: 10.1016/s0190-9622(83)70195-7. PMID: 6315788

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