C7 and C6 deficiency, combined subtotal

MedGen UID:: 866001
•Concept ID:: C4017564
•: Finding

Synonym:	C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL

OMIM®:	217070

Recent clinical studies

Etiology

C7 M/N protein polymorphism typing applied to inherited deficiencies of human complement proteins C6 and C7.

Würzner R, Rance N, Potter PC, Hendricks ML, Lachmann PJ, Orren A
Clin Exp Immunol 1992 Sep;89(3):485-9. doi: 10.1111/j.1365-2249.1992.tb06985.x. PMID: 1516263 Free PMC Article

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Diagnosis

Properties of a low molecular weight complement component C6 found in human subjects with subtotal C6 deficiency.

Orren A, Würzner R, Potter PC, Fernie BA, Coetzee S, Morgan BP, Lachmann PJ
Immunology 1992 Jan;75(1):10-6. PMID: 1537585 Free PMC Article

C7 M/N protein polymorphism typing applied to inherited deficiencies of human complement proteins C6 and C7.

Würzner R, Rance N, Potter PC, Hendricks ML, Lachmann PJ, Orren A
Clin Exp Immunol 1992 Sep;89(3):485-9. doi: 10.1111/j.1365-2249.1992.tb06985.x. PMID: 1516263 Free PMC Article

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Clinical prediction guides

Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

Fernie BA, Würzner R, Orren A, Morgan BP, Potter PC, Platonov AE, Vershinina IV, Shipulin GA, Lachmann PJ, Hobart MJ
J Immunol 1996 Oct 15;157(8):3648-57. PMID: 8871666

Complement component C6 and C7 haplotypes associated with deficiencies of C6.

Fernie BA, Orren A, Würzner R, Jones AM, Potter PC, Lachmann PJ, Hobart MJ
Ann Hum Genet 1995 Apr;59(2):183-95. doi: 10.1111/j.1469-1809.1995.tb00740.x. PMID: 7625765

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C7 and C6 deficiency, combined subtotal

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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