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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.
See: Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Treatment of AB deficiencies.
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

Acquired Angioedema due to C1-Inhibitor Deficiency: A Challenging Condition.
Valle SOR, Alonso MLO, Dortas Junior SD, Goudouris ES, de Carvalho ALRB, Capelo AV, Mansour E, Bernardes AF, Leite LFB, Giavina-Bianchi P, Aun MV, Ferriani MPL, Arruda LK, Grumach AS
Int Arch Allergy Immunol 2022;183(5):572-577. Epub 2022 Mar 24 doi: 10.1159/000521646. PMID: 35325890
Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.
Al-Mayouf SM, Alreefi HA, Alsinan TA, AlSalmi G, AlRowais A, Al-Herz W, Alazami AM, Alsonbul A, Al-Mousa H
Mod Rheumatol 2021 Nov;31(6):1171-1178. Epub 2021 Feb 22 doi: 10.1080/14397595.2021.1886627. PMID: 33563058
Cq1 Exon Polymorphisms in Caucasian and African American Systemic Lupus Erythematosus patients.
Irshaid FI, Birmingham DJ
Pak J Biol Sci 2018;21(3):119-126. doi: 10.3923/pjbs.2018.119.126. PMID: 30187721
Acquired C1 Inhibitor Deficiency.
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
The biochemical functions of ascorbic acid.
Englard S, Seifter S
Annu Rev Nutr 1986;6:365-406. doi: 10.1146/annurev.nu.06.070186.002053. PMID: 3015170

Diagnosis

Biochemistry, molecular genetics, and clinical aspects of hereditary angioedema with and without C1 inhibitor deficiency.
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
Hereditary and acquired angioedema.
Patel G, Pongracic JA
Allergy Asthma Proc 2019 Nov 1;40(6):441-445. doi: 10.2500/aap.2019.40.4267. PMID: 31690390
Anti-C1q antibodies in systemic lupus erythematosus.
Orbai AM, Truedsson L, Sturfelt G, Nived O, Fang H, Alarcón GS, Gordon C, Merrill J, Fortin PR, Bruce IN, Isenberg DA, Wallace DJ, Ramsey-Goldman R, Bae SC, Hanly JG, Sanchez-Guerrero J, Clarke AE, Aranow CB, Manzi S, Urowitz MB, Gladman DD, Kalunian KC, Costner MI, Werth VP, Zoma A, Bernatsky S, Ruiz-Irastorza G, Khamashta MA, Jacobsen S, Buyon JP, Maddison P, Dooley MA, Van Vollenhoven RF, Ginzler E, Stoll T, Peschken C, Jorizzo JL, Callen JP, Lim SS, Fessler BJ, Inanc M, Kamen DL, Rahman A, Steinsson K, Franks AG Jr, Sigler L, Hameed S, Pham N, Brey R, Weisman MH, McGwin G Jr, Magder LS, Petri M
Lupus 2015 Jan;24(1):42-9. Epub 2014 Aug 14 doi: 10.1177/0961203314547791. PMID: 25124676Free PMC Article
Chapter 22: Hereditary and acquired angioedema.
Georgy MS, Pongracic JA
Allergy Asthma Proc 2012 May-Jun;33 Suppl 1:73-76. doi: 10.2500/aap.2012.33.3555. PMID: 22794695
Adiponectin: systemic contributor to insulin sensitivity.
Pajvani UB, Scherer PE
Curr Diab Rep 2003 Jun;3(3):207-13. doi: 10.1007/s11892-003-0065-2. PMID: 12762967

Therapy

Acquired Angioedema due to C1-Inhibitor Deficiency: A Challenging Condition.
Valle SOR, Alonso MLO, Dortas Junior SD, Goudouris ES, de Carvalho ALRB, Capelo AV, Mansour E, Bernardes AF, Leite LFB, Giavina-Bianchi P, Aun MV, Ferriani MPL, Arruda LK, Grumach AS
Int Arch Allergy Immunol 2022;183(5):572-577. Epub 2022 Mar 24 doi: 10.1159/000521646. PMID: 35325890
Periodic Severe Angioedema without Exogenous Hormone Exposure.
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
CTRP3 attenuates high-fat diet-induced male reproductive dysfunction in mice.
Mu Y, Yin TL, Yin L, Hu X, Yang J
Clin Sci (Lond) 2018 Apr 30;132(8):883-899. doi: 10.1042/CS20180179. PMID: 29572383
Acquired C1 Inhibitor Deficiency.
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
Idiopatic angioedema treated with dapsone.
González P, Soriano V, Caballero T, Niveiro E
Allergol Immunopathol (Madr) 2005 Jan-Feb;33(1):54-6. doi: 10.1157/13070610. PMID: 15777525

Prognosis

Complement activation promoted by the lectin pathway mediates C3aR-dependent sarcoma progression and immunosuppression.
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
Clinical presentation of human C1q deficiency: How much of a lupus?
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
Rheumatological manifestations, organ damage and autoimmunity in hereditary C2 deficiency.
Jönsson G, Sjöholm AG, Truedsson L, Bengtsson AA, Braconier JH, Sturfelt G
Rheumatology (Oxford) 2007 Jul;46(7):1133-9. Epub 2007 May 3 doi: 10.1093/rheumatology/kem023. PMID: 17478473
Complement in the pathophysiology and diagnosis of human diseases.
Dalmasso AP
Crit Rev Clin Lab Sci 1986;24(2):123-83. doi: 10.3109/10408368609110272. PMID: 2971510
Inherited disorders of complement.
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

Biochemistry, molecular genetics, and clinical aspects of hereditary angioedema with and without C1 inhibitor deficiency.
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
Deletion of large-conductance calcium-activated potassium channels promotes vascular remodelling through the CTRP7-mediated PI3K/Akt signaling pathway.
Bi J, Duan Y, Wang M, He C, Li X, Zhang X, Tao Y, Du Y, Liu H
Acta Biochim Biophys Sin (Shanghai) 2022 Dec 25;54(12):1-11. doi: 10.3724/abbs.2022179. PMID: 36514218Free PMC Article
Cq1 Exon Polymorphisms in Caucasian and African American Systemic Lupus Erythematosus patients.
Irshaid FI, Birmingham DJ
Pak J Biol Sci 2018;21(3):119-126. doi: 10.3923/pjbs.2018.119.126. PMID: 30187721
The collectins CL-L1, CL-K1 and CL-P1, and their roles in complement and innate immunity.
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
Inherited disorders of complement.
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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