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Immunodeficiency due to a complement regulatory deficiency

MedGen UID:
1842205
•Concept ID:
C5681111
•
Disease or Syndrome
Orphanet: ORPHA459348

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency due to a complement regulatory deficiency

Professional guidelines

PubMed

Manufacturing of plasma-derived C1-inhibitor concentrate for treatment of patients with hereditary angioedema.
Simon TL, Kalina U, Laske R, Mycroft S, Widmer E, Roth NJ
Allergy Asthma Proc 2020 Mar 1;41(2):99-107. Epub 2019 Dec 3 doi: 10.2500/aap.2020.41.190021. PMID: 31796151
Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management.
Schröder-Braunstein J, Kirschfink M
Mol Immunol 2019 Oct;114:299-311. Epub 2019 Aug 14 doi: 10.1016/j.molimm.2019.08.002. PMID: 31421540
Diagnosis and treatment of hereditary angioedema.
Canonica GW, Rossi O
Panminerva Med 2012 Sep;54(3):241-53. PMID: 22801442

Recent clinical studies

Etiology

Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management.
Schröder-Braunstein J, Kirschfink M
Mol Immunol 2019 Oct;114:299-311. Epub 2019 Aug 14 doi: 10.1016/j.molimm.2019.08.002. PMID: 31421540
Interpretation of Serological Complement Biomarkers in Disease.
Ekdahl KN, Persson B, Mohlin C, Sandholm K, Skattum L, Nilsson B
Front Immunol 2018;9:2237. Epub 2018 Oct 24 doi: 10.3389/fimmu.2018.02237. PMID: 30405598Free PMC Article
Complement factor H related proteins (CFHRs).
Skerka C, Chen Q, Fremeaux-Bacchi V, Roumenina LT
Mol Immunol 2013 Dec 15;56(3):170-80. Epub 2013 Jul 3 doi: 10.1016/j.molimm.2013.06.001. PMID: 23830046
Deficiencies and excessive human complement system activation in disorders of multifarious etiology.
Tichaczek-Goska D
Adv Clin Exp Med 2012 Jan-Feb;21(1):105-14. PMID: 23214307
Primary immunodeficiency and autoimmunity: lessons from human diseases.
Arason GJ, Jorgensen GH, Ludviksson BR
Scand J Immunol 2010 May;71(5):317-28. doi: 10.1111/j.1365-3083.2010.02386.x. PMID: 20500682

Diagnosis

Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management.
Schröder-Braunstein J, Kirschfink M
Mol Immunol 2019 Oct;114:299-311. Epub 2019 Aug 14 doi: 10.1016/j.molimm.2019.08.002. PMID: 31421540
Interpretation of Serological Complement Biomarkers in Disease.
Ekdahl KN, Persson B, Mohlin C, Sandholm K, Skattum L, Nilsson B
Front Immunol 2018;9:2237. Epub 2018 Oct 24 doi: 10.3389/fimmu.2018.02237. PMID: 30405598Free PMC Article
Autoimmunity and Immunodeficiency.
Dosanjh A
Pediatr Rev 2015 Nov;36(11):489-94; quiz 495. doi: 10.1542/pir.36-11-489. PMID: 26527628
Complement deficiency and disease.
Unsworth DJ
J Clin Pathol 2008 Sep;61(9):1013-7. Epub 2008 May 21 doi: 10.1136/jcp.2008.056317. PMID: 18495794
Complement deficiencies.
Frank MM
Pediatr Clin North Am 2000 Dec;47(6):1339-54. doi: 10.1016/s0031-3955(05)70274-1. PMID: 11130999

Therapy

Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease.
Ozen A, Kasap N, Vujkovic-Cvijin I, Apps R, Cheung F, Karakoc-Aydiner E, Akkelle B, Sari S, Tutar E, Ozcay F, Uygun DK, Islek A, Akgun G, Selcuk M, Sezer OB, Zhang Y, Kutluk G, Topal E, Sayar E, Celikel C, Houwen RHJ, Bingol A, Ogulur I, Eltan SB, Snow AL, Lake C, Fantoni G, Alba C, Sellers B, Chauvin SD, Dalgard CL, Harari O, Ni YG, Wang MD, Devalaraja-Narashimha K, Subramanian P, Ergelen R, Artan R, Guner SN, Dalgic B, Tsang J, Belkaid Y, Ertem D, Baris S, Lenardo MJ
Nat Immunol 2021 Feb;22(2):128-139. Epub 2021 Jan 4 doi: 10.1038/s41590-020-00830-z. PMID: 33398182Free PMC Article
Biological therapy in hereditary angioedema: transformation of a rare disease.
Longhurst H, Farkas H
Expert Opin Biol Ther 2020 May;20(5):493-501. Epub 2020 Mar 19 doi: 10.1080/14712598.2020.1724280. PMID: 31994957
Manufacturing of plasma-derived C1-inhibitor concentrate for treatment of patients with hereditary angioedema.
Simon TL, Kalina U, Laske R, Mycroft S, Widmer E, Roth NJ
Allergy Asthma Proc 2020 Mar 1;41(2):99-107. Epub 2019 Dec 3 doi: 10.2500/aap.2020.41.190021. PMID: 31796151
Membrano-proliferative glomerulonephritis, atypical hemolytic uremic syndrome, and a new complement factor H mutation: report of a case.
Gnappi E, Allinovi M, Vaglio A, Bresin E, Sorosina A, Pilato FP, Allegri L, Manenti L
Pediatr Nephrol 2012 Oct;27(10):1995-9. Epub 2012 Jun 5 doi: 10.1007/s00467-012-2210-0. PMID: 22669321
Update on the acute treatment of hereditary angioedema.
Riedl MA
Allergy Asthma Proc 2011 Jan-Feb;32(1):11-6. doi: 10.2500/aap.2011.32.3406. PMID: 21262093

Prognosis

Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort.
Shears A, Steele C, Craig J, Jolles S, Savic S, Hague R, Coulter T, Herriot R, Arkwright PD
J Clin Immunol 2022 Apr;42(3):665-671. Epub 2022 Jan 27 doi: 10.1007/s10875-022-01213-9. PMID: 35084692Free PMC Article
Complement factor H-deficient mice develop spontaneous hepatic tumors.
Laskowski J, Renner B, Pickering MC, Serkova NJ, Smith-Jones PM, Clambey ET, Nemenoff RA, Thurman JM
J Clin Invest 2020 Aug 3;130(8):4039-4054. doi: 10.1172/JCI135105. PMID: 32369457Free PMC Article
Biological therapy in hereditary angioedema: transformation of a rare disease.
Longhurst H, Farkas H
Expert Opin Biol Ther 2020 May;20(5):493-501. Epub 2020 Mar 19 doi: 10.1080/14712598.2020.1724280. PMID: 31994957
Interpretation of Serological Complement Biomarkers in Disease.
Ekdahl KN, Persson B, Mohlin C, Sandholm K, Skattum L, Nilsson B
Front Immunol 2018;9:2237. Epub 2018 Oct 24 doi: 10.3389/fimmu.2018.02237. PMID: 30405598Free PMC Article
Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.
Grodecká L, Hujová P, Kramárek M, Kršjaková T, Kováčová T, Vondrášková K, Ravčuková B, Hrnčířová K, Souček P, Freiberger T
Clin Immunol 2017 Jul;180:33-44. Epub 2017 Mar 27 doi: 10.1016/j.clim.2017.03.010. PMID: 28359783

Clinical prediction guides

Complement factor H-deficient mice develop spontaneous hepatic tumors.
Laskowski J, Renner B, Pickering MC, Serkova NJ, Smith-Jones PM, Clambey ET, Nemenoff RA, Thurman JM
J Clin Invest 2020 Aug 3;130(8):4039-4054. doi: 10.1172/JCI135105. PMID: 32369457Free PMC Article
Interpretation of Serological Complement Biomarkers in Disease.
Ekdahl KN, Persson B, Mohlin C, Sandholm K, Skattum L, Nilsson B
Front Immunol 2018;9:2237. Epub 2018 Oct 24 doi: 10.3389/fimmu.2018.02237. PMID: 30405598Free PMC Article
Deficiencies and excessive human complement system activation in disorders of multifarious etiology.
Tichaczek-Goska D
Adv Clin Exp Med 2012 Jan-Feb;21(1):105-14. PMID: 23214307
Complement deficiencies.
Frank MM
Pediatr Clin North Am 2000 Dec;47(6):1339-54. doi: 10.1016/s0031-3955(05)70274-1. PMID: 11130999
CD46, a complement regulatory protein/measles virus receptor, and its relation to hematological disorders.
Seya T
Int J Hematol 1996 Aug;64(2):101-9. doi: 10.1016/0925-5710(96)00476-8. PMID: 8854567

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