Hereditary angioedema and “familial” lupus erythematosus in identical twin boys

Köhler, Peter F.; Percy, J. S.; Campion, Woodrow M.; Smyth, Charley J.

doi:10.1016/0002-9343(74)90623-8

Cited by 101 publications

(26 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, when the concentration of CVF was varied from 2 to 50 ug/ml, with constant amounts of C3 or when the amount of C3 was varied with two different concentrations of CVF, 5 and 25 Ag/ml, conversion of factor B to B was still not observed. It has been shown that C3b is not needed for the conversion of factor B by CVF (43).…”

Section: Resultsmentioning

confidence: 96%

“…The absence of these control proteins or inhibitors in the C system has been clearly associated with specific clinical patterns of disease. Absence of C1 esterase inhibitor is seen in hereditary angioneurotic edema (3) and has been reported to be associated with renal disease in three cases (4,5). Absence of C3b inactivator is associated with increased susceptibility to infections (6).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Complete absence of the third component of complement in man.

Ballow¹,

Shira²,

Harden³

et al. 1975

J. Clin. Invest.

110

View full text Add to dashboard Cite

Section: Resultsmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 99%

Complete absence of the third component of complement in man.

Ballow¹,

Shira²,

Harden³

et al. 1975

J. Clin. Invest.

110

View full text Add to dashboard Cite

“…In addition to these, 2 siblings with hereditary angioedema 0 inhibitor deficiency) have been reported with discoid lupus erythematosus; the mother of these children had died of systemic lupus erythematosus and had also manifested angioedema (29). One other patient with a deficiency of inhibitor has been reported to havechronic glomeru-CIS (12).…”

Section: Discussionmentioning

confidence: 99%

Familial deficiency of two subunits of the first component of complement. c1r and c1s associated with a lupus erythematosus‐like disease

Lee

Wallace

Barone

et al. 1978

Arthritis & Rheumatism

View full text Add to dashboard Cite

Complete absence of Clr and almost complete absence of Cls were found in 4 of 8 living siblings. Two of the 4 suffer from a syndrome that combines discoid lupus erythematosus and nondeforming rheumatoid-like arthritis; one of the siblings has mild nephritis. The other 2 C1 deficient family members are clinically well. Evidence from this and other families suggests that deficiency of CI components or C4 is associated with higher risk of developing a lupus-like disease than is deficiency of C2. Recent reports have emphasized the occurrence

show abstract

“…C1Inh deficiency causes hyperactivity of the classical complement pathway, resulting in immunological diseases and the deposition of immune complexes, such as Lupus, membranoproliferative glomerulonephritis, autoimmune thyroiditis, etc. [4][5][6]. The C2b fragment, Prokinin, under the enzymatic action of plasmin and that of the kinases of the kinin-kallikrein system, is turned into bradykinin.…”

Section: Introductionmentioning

confidence: 99%

Hereditary Angioedema Type 1 and Serious Vascular Lesions Associated with Segmental and Focal Hyalinosis: Is there a Causal Connection?

Guéye¹,

Yaya²,

Dahri³

et al. 2017

J Clin Exp Nephrol

View full text Add to dashboard Cite

Hereditary angioedema (HAE) is rare; it is usually a monogenic, genetic disease with autosomal dominant transmission, resulting in C1-inhibitor deficiency (C1InH). Renal involvement associated with HAE has been known for nearly thirty years. We are reporting on two observations of a father and his daughter presenting a glomerulonephritis evolving towards to CKD class V. Renal needle biopsy had evidenced acute vascular lesions associated with segmental and focal hyalinosis. Since these lesions were not described, we discussed the possible causal links with HAE. The accumulation of bradykinin caused by mutation in C1-Inh could have been misleading, considering all the beneficial vascular and renal effects widely described in the literature, if we stick to that fact, in the study of vascular and glomerular lesions. On the other hand, taken as a whole, HAE appears to pave the way for the development of a glomerular and vascular disease: dysimmunity, circulating immune complexes, and vascular hyperpermeability favor deposition of immune complexes, overexpression and activation of B1 receptors.

show abstract

Hereditary angioedema and “familial” lupus erythematosus in identical twin boys

Cited by 101 publications

References 20 publications

Complete absence of the third component of complement in man.

Complete absence of the third component of complement in man.

Familial deficiency of two subunits of the first component of complement. c1r and c1s associated with a lupus erythematosus‐like disease

Hereditary Angioedema Type 1 and Serious Vascular Lesions Associated with Segmental and Focal Hyalinosis: Is there a Causal Connection?

Contact Info

Product

Resources

About