Complement deficiencies

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Overview

Classification

Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

Predominantly Antibody Deficiency

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

Defects in Intrinsic and Innate Immunity

Auto-inflammatory Disorders

Complement Deficiencies

Phenocopies of Primary Immunodeficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sabawoon Mirwais, M.B.B.S, M.D.[2], Zahir Ali Shaikh, MD[3], Anmol Pitliya, M.B.B.S. M.D.[4]

Overview

The complement system is a biochemical cascade which helps clear pathogens from an organism. It belongs to the innate immune system. Complement deficiencies can be inherited or acquired (as a result of complement-consuming disease state). Complement deficiency states may predispose affected individuals to angioedema, collagen vascular disease, or infection due to encapsulated organisms, especially Neisseria meningitidis.[1]

Classification

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Complement Deficiencies
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Susceptibility to infections
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
HIGH
 
 
 
 
 
 
 
 
 
 
 
 
 
LOW
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Disseminated Neisserial infections
 
 
 
 
 
Recurrent pyogenic infections
 
 
 
SLE like syndrome
 
 
 
Atypical hemolytic uremic syndrome (aHUS)
 
 
Others
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Absent CH50 & AH50 hemolytic activity, defective bacterial activity
 
 
 
Normal CH50, Absent AH50 hemolytic activity
 
 
 
 
 
C3 loss-of-function
 
 
 
 
C1Q deficiency: C1QA, C1QB, C1QC
 
 
 
 
C3 gain-of-function
 
 
 
C1-Inhibitor (C1NH)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
C5 deficiency
 
 
 
 
Properdin deficiency
 
 
 
Mannan-binding lectin serine protease 2 (MASP2) deficiency
 
 
 
 
C1R deficiency
 
 
 
 
Factor B gain-of-function
 
 
 
Membrane attack complex inhibitor (CD59) deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
C6 deficiency
 
 
 
 
Factor D deficiency
 
 
 
Ficolin-3 (FCN3) deficiency
 
 
 
 
C1S deficiency
 
 
 
 
Factor H deficiency
 
 
 
Decay accelerating factor (DAF) or CD55 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
C7 deficiency
 
 
 
 
 
 
 
 
 
Factor B loss-of-function
 
 
 
 
C2 deficiency
 
 
 
 
Factor H-related protein deficiencies
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
C8 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
C4 deficiency
 
 
 
 
Factor I deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
C9 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Thrombomodulin deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Membrane cofactor protein (MCP) deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

Disseminated Neisserial Infections

C5 Deficiency

C6 Deficiency

C7 Deficiency

C8 Deficiency

C9 Deficiency

Properdin Deficiency

Factor D Deficiency

Recurrent Pyogenic Infections

C3 Loss-of-Function

Mannan-binding Lectin Serine Protease 2 (MASP2) Deficiency

Ficolin-3 (FCN3) Deficiency

Factor B Loss-of-Function

SLE-like Syndrome

C1Q Deficiency

C1R Deficiency

C1S Deficiency

C2 Deficiency

C4 Deficiency

Atypical Hemolytic Uremic Syndrome (aHUS)

C3 Gain-of-Function

Factor B Gain-of-Function

Factor H Deficiency

Factor H-related Protein Deficiencies

Factor I Deficiency

Thrombomodulin Deficiency

Membrane Cofactor Protein (MCP) Deficiency

Others

C1-Inhibitor (C1NH)

Membrane Attack Complex Inhibitor (CD59) Deficiency

Decay Accelerating Factor (DAF) or CD55 Deficiency

References

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  2. Miller, Michael E.; Nilsson, Ulf R. (1970). "A Familial Deficiency of the Phagocytosis-Enhancing Activity of Serum Related to a Dysfunction of the Fifth Component of Complement (C5)". New England Journal of Medicine. 282 (7): 354–358. doi:10.1056/NEJM197002122820702. ISSN 0028-4793.
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  7. M. R. Moya-Quiles, M. V. Bernardo-Pisa, P. Martinez, L. Gimeno, A. Bosch, G. Salgado, H. Martinez-Banaclocha, J. Eguia, J. A. Campillo, M. Muro, J. B. Vidal-Bugallo, M. R. Alvarez-Lopez & A. M. Garcia-Alonso (2013). "Complement component C6 deficiency in a Spanish family: implications for clinical and molecular diagnosis". Gene. 521 (1): 204–206. doi:10.1016/j.gene.2013.03.027. PMID 23537992. Unknown parameter |month= ignored (help)
  8. A. Orren (2000). "Molecular mechanisms of complement component C6 deficiency; a hypervariable exon 6 region responsible for three of six reported defects". Clinical and experimental immunology. 119 (2): 255–258. PMID 10632659. Unknown parameter |month= ignored (help)
  9. Sung Hoon Sim, Jung Yeon Heo, Eui-Chong Kim & Kang-Won Choe (2013). "A case of meningococcal sepsis and meningitis with complement 7 deficiency in a military trainee". Infection & chemotherapy. 45 (1): 94–98. doi:10.3947/ic.2013.45.1.94. PMID 24265955. Unknown parameter |month= ignored (help)
  10. L. J. Egan, A. Orren, J. Doherty, R. Wurzner & C. F. McCarthy (1994). "Hereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an Irish family using a novel haemolytic screening assay for complement activity and C7 M/N allotyping". Epidemiology and infection. 113 (2): 275–281. PMID 7523157. Unknown parameter |month= ignored (help)
  11. L. J. Egan, A. Orren, J. Doherty, R. Wurzner & C. F. McCarthy (1994). "Hereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an Irish family using a novel haemolytic screening assay for complement activity and C7 M/N allotyping". Epidemiology and infection. 113 (2): 275–281. PMID 7523157. Unknown parameter |month= ignored (help)
  12. A. Srotova, J. Litzman, S. Rumlarova, M. Drahosova, D. Bartonkova, I. Krcmova, A. Roberts, S. Jolles & P. Kralickova. "[Recurrent meningitis and inherited complement deficiency]". Epidemiologie, mikrobiologie, imunologie : casopis Spolecnosti pro epidemiologii a mikrobiologii Ceske lekarske spolecnosti J.E. Purkyne. 65 (4): 238–242. PMID 28078901.
  13. L. Saucedo, L. Ackermann, A. E. Platonov, A. Gewurz, R. M. Rakita & P. Densen (1995). "Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis". Journal of immunology (Baltimore, Md. : 1950). 155 (10): 5022–5028. PMID 7594510. Unknown parameter |month= ignored (help)
  14. S. C. Ross & P. Densen (1984). "Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency". Medicine. 63 (5): 243–273. PMID 6433145. Unknown parameter |month= ignored (help)
  15. N. M. Wulffraat, E. A. Sanders, C. A. Fijen, A. Hannema, W. Kuis & B. J. Zegers (1994). "Deficiency of the beta subunit of the eighth component of complement presenting as arthritis and exanthem". Arthritis and rheumatism. 37 (11): 1704–1706. PMID 7980680. Unknown parameter |month= ignored (help)
  16. A. Srotova, J. Litzman, S. Rumlarova, M. Drahosova, D. Bartonkova, I. Krcmova, A. Roberts, S. Jolles & P. Kralickova. "[Recurrent meningitis and inherited complement deficiency]". Epidemiologie, mikrobiologie, imunologie : casopis Spolecnosti pro epidemiologii a mikrobiologii Ceske lekarske spolecnosti J.E. Purkyne. 65 (4): 238–242. PMID 28078901.
  17. M. Nagata, T. Hara, T. Aoki, Y. Mizuno, H. Akeda, S. Inaba, K. Tsumoto & K. Ueda (1989). "Inherited deficiency of ninth component of complement: an increased risk of meningococcal meningitis". The Journal of pediatrics. 114 (2): 260–264. PMID 2915285. Unknown parameter |month= ignored (help)
  18. M. Sugimoto, M. Nishikai, A. Sato, Y. Suzuki, M. Nihei, J. Uchida & N. Mimura (1987). "SLE-like and sicca symptoms in late component (C9) complement deficiency". Annals of the rheumatic diseases. 46 (2): 153–155. PMID 3827337. Unknown parameter |month= ignored (help)
  19. Takayoshi Miura, Shin Goto, Seitaro Iguchi, Hisaki Shimada, Mitsuhiro Ueno, Shin-ichi Nishi & Ichiei Narita (2011). "Membranoproliferative pattern of glomerular injury associated with complement component 9 deficiency due to Arg95Stop mutation". Clinical and experimental nephrology. 15 (1): 86–91. doi:10.1007/s10157-010-0358-0. PMID 21057849. Unknown parameter |month= ignored (help)
  20. Nobuyoshi Hanaoka, Yoshiko Murakami, Masahide Nagata, Shoichi Nagakura, Yuji Yonemura, Takashi Sonoki, Taroh Kinoshita & Hideki Nakakuma (2012). "Persistently high quality of life conferred by coexisting congenital deficiency of terminal complement C9 in a paroxysmal nocturnal hemoglobinuria patient". Blood. 119 (16): 3866–3868. doi:10.1182/blood-2012-02-408161. PMID 22517879. Unknown parameter |month= ignored (help)
  21. S. M. Linton & B. P. Morgan (1999). "Properdin deficiency and meningococcal disease--identifying those most at risk". Clinical and experimental immunology. 118 (2): 189–191. PMID 10540177. Unknown parameter |month= ignored (help)
  22. Janeway, Charles (2001). Immunobiology 5 : the immune system in health and disease. New York: Garland Pub. ISBN 081533642X.
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  24. M. Schlesinger, U. Mashal, J. Levy & Z. Fishelson (1993). "Hereditary properdin deficiency in three families of Tunisian Jews". Acta paediatrica (Oslo, Norway : 1992). 82 (9): 744–747. PMID 8241670. Unknown parameter |month= ignored (help)
  25. S. M. Linton & B. P. Morgan (1999). "Properdin deficiency and meningococcal disease--identifying those most at risk". Clinical and experimental immunology. 118 (2): 189–191. PMID 10540177. Unknown parameter |month= ignored (help)
  26. A. G. Sjoholm (1990). "Inherited complement deficiency states: implications for immunity and immunological disease". APMIS : acta pathologica, microbiologica, et immunologica Scandinavica. 98 (10): 861–874. PMID 2147105. Unknown parameter |month= ignored (help)
  27. R. T. White, D. Damm, N. Hancock, B. S. Rosen, B. B. Lowell, P. Usher, J. S. Flier & B. M. Spiegelman (1992). "Human adipsin is identical to complement factor D and is expressed at high levels in adipose tissue". The Journal of biological chemistry. 267 (13): 9210–9213. PMID 1374388. Unknown parameter |month= ignored (help)
  28. D. H. Biesma, A. J. Hannema, H. van Velzen-Blad, L. Mulder, R. van Zwieten, I. Kluijt & D. Roos (2001). "A family with complement factor D deficiency". The Journal of clinical investigation. 108 (2): 233–240. doi:10.1172/JCI12023. PMID 11457876. Unknown parameter |month= ignored (help)
  29. S. J. Weiss, A. E. Ahmed & V. R. Bonagura (1998). "Complement factor D deficiency in an infant first seen with pneumococcal neonatal sepsis". The Journal of allergy and clinical immunology. 102 (6 Pt 1): 1043–1044. PMID 9847449. Unknown parameter |month= ignored (help)
  30. Aziz Bousfiha, Leila Jeddane, Capucine Picard, Fatima Ailal, H. Bobby Gaspar, Waleed Al-Herz, Talal Chatila, Yanick J. Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Hans D. Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L. K. Tang, Stuart G. Tangye, Troy R. Torgerson, Jean-Laurent Casanova & Kathleen E. Sullivan (2018). "The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies". Journal of clinical immunology. 38 (1): 129–143. doi:10.1007/s10875-017-0465-8. PMID 29226301. Unknown parameter |month= ignored (help)
  31. Georgia Sfyroera, Daniel Ricklin, Edimara S. Reis, Hui Chen, Emilia L. Wu, Yiannis N. Kaznessis, Kristina N. Ekdahl, Bo Nilsson & John D. Lambris (2015). "Rare loss-of-function mutation in complement component C3 provides insight into molecular and pathophysiological determinants of complement activity". Journal of immunology (Baltimore, Md. : 1950). 194 (7): 3305–3316. doi:10.4049/jimmunol.1402781. PMID 25712219. Unknown parameter |month= ignored (help)
  32. Aziz Bousfiha, Leila Jeddane, Capucine Picard, Fatima Ailal, H. Bobby Gaspar, Waleed Al-Herz, Talal Chatila, Yanick J. Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Hans D. Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L. K. Tang, Stuart G. Tangye, Troy R. Torgerson, Jean-Laurent Casanova & Kathleen E. Sullivan (2018). "The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies". Journal of clinical immunology. 38 (1): 129–143. doi:10.1007/s10875-017-0465-8. PMID 29226301. Unknown parameter |month= ignored (help)
  33. S. Thiel, R. Steffensen, I. J. Christensen, W. K. Ip, Y. L. Lau, I. J. M. Reason, H. Eiberg, M. Gadjeva, M. Ruseva & J. C. Jensenius (2007). "Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms". Genes and immunity. 8 (2): 154–163. doi:10.1038/sj.gene.6364373. PMID 17252003. Unknown parameter |month= ignored (help)
  34. Anna Sokolowska, Agnieszka Szala, Anna St Swierzko, Monika Kozinska, Tomasz Niemiec, Maria Blachnio, Ewa Augustynowicz-Kopec, Jaroslaw Dziadek & Maciej Cedzynski (2015). "Mannan-binding lectin-associated serine protease-2 (MASP-2) deficiency in two patients with pulmonary tuberculosis and one healthy control". Cellular & molecular immunology. 12 (1): 119–121. doi:10.1038/cmi.2014.19. PMID 24658431. Unknown parameter |month= ignored (help)
  35. Kristian Stengaard-Pedersen, Steffen Thiel, Mihaela Gadjeva, Mette Moller-Kristensen, Rikke Sorensen, Lise T. Jensen, Anders G. Sjoholm, Lars Fugger & Jens C. Jensenius (2003). "Inherited deficiency of mannan-binding lectin-associated serine protease 2". The New England journal of medicine. 349 (6): 554–560. doi:10.1056/NEJMoa022836. PMID 12904520. Unknown parameter |month= ignored (help)
  36. Aziz Bousfiha, Leila Jeddane, Capucine Picard, Fatima Ailal, H. Bobby Gaspar, Waleed Al-Herz, Talal Chatila, Yanick J. Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Hans D. Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L. K. Tang, Stuart G. Tangye, Troy R. Torgerson, Jean-Laurent Casanova & Kathleen E. Sullivan (2018). "The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies". Journal of clinical immunology. 38 (1): 129–143. doi:10.1007/s10875-017-0465-8. PMID 29226301. Unknown parameter |month= ignored (help)
  37. Luregn J. Schlapbach, Steffen Thiel, Ulf Kessler, Roland A. Ammann, Christoph Aebi & Jens C. Jensenius (2011). "Congenital H-ficolin deficiency in premature infants with severe necrotising enterocolitis". Gut. 60 (10): 1438–1439. doi:10.1136/gut.2010.226027. PMID 20971976. Unknown parameter |month= ignored (help)
  38. Lea Munthe-Fog, Tina Hummelshoj, Christian Honore, Hans O. Madsen, Henrik Permin & Peter Garred (2009). "Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency". The New England journal of medicine. 360 (25): 2637–2644. doi:10.1056/NEJMoa0900381. PMID 19535802. Unknown parameter |month= ignored (help)
  39. Mateusz Michalski, Anna St Swierzko, Izabela Pagowska-Klimek, Zofia I. Niemir, Karolina Mazerant, Iwona Domzalska-Popadiuk, Maciej Moll & Maciej Cedzynski (2015). "Primary Ficolin-3 deficiency--Is it associated with increased susceptibility to infections?". Immunobiology. 220 (6): 711–713. doi:10.1016/j.imbio.2015.01.003. PMID 25662573. Unknown parameter |month= ignored (help)
  40. Mateusz Michalski, Anna St Swierzko, Izabela Pagowska-Klimek, Zofia I. Niemir, Karolina Mazerant, Iwona Domzalska-Popadiuk, Maciej Moll & Maciej Cedzynski (2015). "Primary Ficolin-3 deficiency--Is it associated with increased susceptibility to infections?". Immunobiology. 220 (6): 711–713. doi:10.1016/j.imbio.2015.01.003. PMID 25662573. Unknown parameter |month= ignored (help)
  41. Lea Munthe-Fog, Tina Hummelshoj, Christian Honore, Hans O. Madsen, Henrik Permin & Peter Garred (2009). "Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency". The New England journal of medicine. 360 (25): 2637–2644. doi:10.1056/NEJMoa0900381. PMID 19535802. Unknown parameter |month= ignored (help)
  42. Mateusz Michalski, Anna St Swierzko, Izabela Pagowska-Klimek, Zofia I. Niemir, Karolina Mazerant, Iwona Domzalska-Popadiuk, Maciej Moll & Maciej Cedzynski (2015). "Primary Ficolin-3 deficiency--Is it associated with increased susceptibility to infections?". Immunobiology. 220 (6): 711–713. doi:10.1016/j.imbio.2015.01.003. PMID 25662573. Unknown parameter |month= ignored (help)
  43. Luregn J. Schlapbach, Steffen Thiel, Ulf Kessler, Roland A. Ammann, Christoph Aebi & Jens C. Jensenius (2011). "Congenital H-ficolin deficiency in premature infants with severe necrotising enterocolitis". Gut. 60 (10): 1438–1439. doi:10.1136/gut.2010.226027. PMID 20971976. Unknown parameter |month= ignored (help)
  44. Mateusz Michalski, Anna St Swierzko, Izabela Pagowska-Klimek, Zofia I. Niemir, Karolina Mazerant, Iwona Domzalska-Popadiuk, Maciej Moll & Maciej Cedzynski (2015). "Primary Ficolin-3 deficiency--Is it associated with increased susceptibility to infections?". Immunobiology. 220 (6): 711–713. doi:10.1016/j.imbio.2015.01.003. PMID 25662573. Unknown parameter |month= ignored (help)
  45. Aziz Bousfiha, Leila Jeddane, Capucine Picard, Fatima Ailal, H. Bobby Gaspar, Waleed Al-Herz, Talal Chatila, Yanick J. Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Hans D. Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L. K. Tang, Stuart G. Tangye, Troy R. Torgerson, Jean-Laurent Casanova & Kathleen E. Sullivan (2018). "The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies". Journal of clinical immunology. 38 (1): 129–143. doi:10.1007/s10875-017-0465-8. PMID 29226301. Unknown parameter |month= ignored (help)
  46. R. Topaloglu, A. Bakkaloglu, J. H. Slingsby, M. J. Mihatsch, M. Pascual, P. Norsworthy, B. J. Morley, U. Saatci, J. A. Schifferli & M. J. Walport (1996). "Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family". Kidney international. 50 (2): 635–642. PMID 8840296. Unknown parameter |month= ignored (help)
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  49. Yousuke Higuchi, Junya Shimizu, Michiyo Hatanaka, Etsuko Kitano, Hajime Kitamura, Hidetoshi Takada, Masataka Ishimura, Toshiro Hara, Osamu Ohara, Kenji Asagoe & Toshihide Kubo (2013). "The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report". Pediatric rheumatology online journal. 11 (1): 41. doi:10.1186/1546-0096-11-41. PMID 24160257. Unknown parameter |month= ignored (help)
  50. R. Topaloglu, A. Bakkaloglu, J. H. Slingsby, M. J. Mihatsch, M. Pascual, P. Norsworthy, B. J. Morley, U. Saatci, J. A. Schifferli & M. J. Walport (1996). "Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family". Kidney international. 50 (2): 635–642. PMID 8840296. Unknown parameter |month= ignored (help)
  51. G. Vassallo, R. W. Newton, S. E. Chieng, M. R. Haeney, A. Shabani & P. D. Arkwright (2007). "Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency". Rheumatology (Oxford, England). 46 (10): 1612–1614. doi:10.1093/rheumatology/kem207. PMID 17890276. Unknown parameter |month= ignored (help)
  52. Yousuke Higuchi, Junya Shimizu, Michiyo Hatanaka, Etsuko Kitano, Hajime Kitamura, Hidetoshi Takada, Masataka Ishimura, Toshiro Hara, Osamu Ohara, Kenji Asagoe & Toshihide Kubo (2013). "The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report". Pediatric rheumatology online journal. 11 (1): 41. doi:10.1186/1546-0096-11-41. PMID 24160257. Unknown parameter |month= ignored (help)
  53. F. Mampaso, J. Ecija, L. Fogue, I. Moneo, N. Gallego & F. Leyva-Cobian (1981). "Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome". Nephron. 28 (4): 179–185. doi:10.1159/000182170. PMID 7029321.
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