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C1Q deficiency 1(C1QD1)

MedGen UID:
1053847
•Concept ID:
CN376805
•
Disease or Syndrome
Synonym: C1QD1
 
Gene (location): C1QA (1p36.12)
 
Monarch Initiative: MONDO:0958182
OMIM®: 613652

Professional guidelines

PubMed

Genetic test indications and interpretations in patients with hereditary angioedema.
Weiler CR, van Dellen RG
Mayo Clin Proc 2006 Jul;81(7):958-72. doi: 10.4065/81.7.958. PMID: 16835976
Familial occurrence of C1-inhibitor deficiency and the effect of treatment.
Madaliński K, Sabbouh K, Imielska D, Chorazykiewicz M
Arch Immunol Ther Exp (Warsz) 1989;37(5-6):669-74. PMID: 2487375
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

Antibody-Dependent Enhancement (ADE) and the role of complement system in disease pathogenesis.
Thomas S, Smatti MK, Ouhtit A, Cyprian FS, Almaslamani MA, Thani AA, Yassine HM
Mol Immunol 2022 Dec;152:172-182. Epub 2022 Nov 10 doi: 10.1016/j.molimm.2022.11.010. PMID: 36371813Free PMC Article
High-Mobility Group Box 1-Induced Complement Activation Causes Sterile Inflammation.
Kim SY, Son M, Lee SE, Park IH, Kwak MS, Han M, Lee HS, Kim ES, Kim JY, Lee JE, Choi JE, Diamond B, Shin JS
Front Immunol 2018;9:705. Epub 2018 Apr 11 doi: 10.3389/fimmu.2018.00705. PMID: 29696019Free PMC Article
C1q-binding proteins and C1q receptors.
Nicholson-Weller A, Klickstein LB
Curr Opin Immunol 1999 Feb;11(1):42-6. doi: 10.1016/s0952-7915(99)80008-9. PMID: 10047536
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
Altered erythrocyte C3b receptor expression, immune complexes, and complement activation in homosexual men in varying risk groups for acquired immune deficiency syndrome.
Tausk FA, McCutchan A, Spechko P, Schreiber RD, Gigli I
J Clin Invest 1986 Oct;78(4):977-82. doi: 10.1172/JCI112688. PMID: 2944915Free PMC Article

Diagnosis

Streptococcus pneumoniae interactions with the complement system.
Gil E, Noursadeghi M, Brown JS
Front Cell Infect Microbiol 2022;12:929483. Epub 2022 Jul 28 doi: 10.3389/fcimb.2022.929483. PMID: 35967850Free PMC Article
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
Pulmonary capillaritis and its relationship to development of emphysema in hypocomplementaemic urticarial vasculitis syndrome.
Hunt DP, Weil R, Nicholson AG, Burke MM, Du Bois RM, Wells AU
Sarcoidosis Vasc Diffuse Lung Dis 2006 Mar;23(1):70-2. PMID: 16933473
Inherited deficiencies of complement in rheumatic diseases.
Ratnoff WD
Rheum Dis Clin North Am 1996 Feb;22(1):75-94. doi: 10.1016/s0889-857x(05)70263-5. PMID: 8907066
C1-INH defect as an example of deficiency disease.
Madaliński K, Sabbouh K, Chorazykiewicz M, Gregorek H
Immunol Invest 1991 Apr;20(2):133-41. doi: 10.3109/08820139109050781. PMID: 1864632

Therapy

High-Mobility Group Box 1-Induced Complement Activation Causes Sterile Inflammation.
Kim SY, Son M, Lee SE, Park IH, Kwak MS, Han M, Lee HS, Kim ES, Kim JY, Lee JE, Choi JE, Diamond B, Shin JS
Front Immunol 2018;9:705. Epub 2018 Apr 11 doi: 10.3389/fimmu.2018.00705. PMID: 29696019Free PMC Article
Complement activation determines the therapeutic activity of rituximab in vivo.
Di Gaetano N, Cittera E, Nota R, Vecchi A, Grieco V, Scanziani E, Botto M, Introna M, Golay J
J Immunol 2003 Aug 1;171(3):1581-7. doi: 10.4049/jimmunol.171.3.1581. PMID: 12874252
Rheumatic syndromes associated with complement deficiency.
Barilla-LaBarca ML, Atkinson JP
Curr Opin Rheumatol 2003 Jan;15(1):55-60. doi: 10.1097/00002281-200301000-00010. PMID: 12496511
Hereditary deficiency of C2 in association with linear scleroderma 'en coup de sabre'.
Hulsmans RF, Asghar SS, Siddiqui AH, Cormane RH
Arch Dermatol 1986 Jan;122(1):76-9. PMID: 3942410
Inherited complement deficiency states and SLE.
Rynes RI
Clin Rheum Dis 1982 Apr;8(1):29-47. PMID: 6288318

Prognosis

Antibody-Dependent Enhancement (ADE) and the role of complement system in disease pathogenesis.
Thomas S, Smatti MK, Ouhtit A, Cyprian FS, Almaslamani MA, Thani AA, Yassine HM
Mol Immunol 2022 Dec;152:172-182. Epub 2022 Nov 10 doi: 10.1016/j.molimm.2022.11.010. PMID: 36371813Free PMC Article
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
Pulmonary capillaritis and its relationship to development of emphysema in hypocomplementaemic urticarial vasculitis syndrome.
Hunt DP, Weil R, Nicholson AG, Burke MM, Du Bois RM, Wells AU
Sarcoidosis Vasc Diffuse Lung Dis 2006 Mar;23(1):70-2. PMID: 16933473
Subacute cutaneous lupus erythematosus: 25-year evolution of a prototypic subset (subphenotype) of lupus erythematosus defined by characteristic cutaneous, pathological, immunological, and genetic findings.
Sontheimer RD
Autoimmun Rev 2005 Jun;4(5):253-63. Epub 2004 Nov 12 doi: 10.1016/j.autrev.2004.10.003. PMID: 15990071

Clinical prediction guides

Antibody-Dependent Enhancement (ADE) and the role of complement system in disease pathogenesis.
Thomas S, Smatti MK, Ouhtit A, Cyprian FS, Almaslamani MA, Thani AA, Yassine HM
Mol Immunol 2022 Dec;152:172-182. Epub 2022 Nov 10 doi: 10.1016/j.molimm.2022.11.010. PMID: 36371813Free PMC Article
The Functional Amyloid Curli Protects Escherichia coli against Complement-Mediated Bactericidal Activity.
Biesecker SG, Nicastro LK, Wilson RP, Tükel Ç
Biomolecules 2018 Jan 24;8(1) doi: 10.3390/biom8010005. PMID: 29364839Free PMC Article
Primary immunodeficiencies unravel critical aspects of the pathophysiology of autoimmunity and of the genetics of autoimmune disease.
Coutinho A, Carneiro-Sampaio M
J Clin Immunol 2008 May;28 Suppl 1:S4-10. Epub 2008 Feb 22 doi: 10.1007/s10875-007-9167-y. PMID: 18293069
A low serum concentration of mannan-binding protein is not associated with serogroup B or C meningococcal disease.
Garred P, Michaelsen TE, Bjune G, Thiel S, Svejgaard A
Scand J Immunol 1993 Apr;37(4):468-70. doi: 10.1111/j.1365-3083.1993.tb03320.x. PMID: 8469930
Complement activation in acute glomerulonephritis in children.
Levy M, Sich M, Pirotzky E, Habib R
Int J Pediatr Nephrol 1985 Jan-Mar;6(1):17-24. PMID: 3997368

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