Secondary systemic lupus erythematosus: An analysis of 4 cases of uncontrolled hereditary angioedema

Khan, Sujoy; Tarzi, Michael; Doré, P.; Sewell, William A.; Longhurst, Hilary

doi:10.1016/j.clim.2006.09.015

Cited by 26 publications

(26 citation statements)

References 16 publications

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“…286 + 2 T > GBetween CCP1-2NDFrameshift leads to stop in CCP2[45]IVS2 − 2A > GCCP2Reduced expressionc. 287 − 2A > G;Lacks exon 3 and creates stop codon at L133X;[36, 43, 45, 47, 48, 71, 77–79]C99RCCP2Reduced expression[43, 47, 48]R103WCCP2Normal expression & C3/C4 regulatory activity[38, 39, 43, 48, 61, 71]R103QCCP2NDCompound heterozygote with factor H mutation[43, 53]Y117XCCP2Reduced expression[46, 69]G130VCCP2ND[43, 53]G135DCCP2Reduced expression[69]G135V-fsX13CCP2ND[43, 74]P165SCCP3Reduced expression[38, 39, 43, 48, 53]E179QCCP3Normal to higher expression; 50 % loss regulatory activity[36, 43, 48]D185N/Y189DCCP3Reduced expression[36, 43, 48]Y189DCCP3Reduced expression[43, 45, 48, 70–72, 80]G196RCCP3Reduced expression; decreased C4b CA only (FI interaction site)…”

Section: Introductionmentioning

confidence: 99%

Complement regulator CD46: genetic variants and disease associations

Liszewski

Atkinson

2015

Hum Genomics

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Membrane cofactor protein (MCP; CD46) is an ubiquitously expressed complement regulatory protein that protects host cells from injury by complement. This type-I membrane glycoprotein serves as a cofactor for the serine protease factor I to mediate inactivation of C3b and C4b deposited on host cells. More than 60 disease-associated mutations in MCP have now been identified. The majority of the mutations are linked to a rare thrombotic microangiopathic-based disease, atypical hemolytic uremic syndrome (aHUS), but new putative links to systemic lupus erythematosus, glomerulonephritis, and pregnancy-related disorders among others have also been identified. This review summarizes our current knowledge of disease-associated mutations in this complement inhibitor.

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Section: Introductionmentioning

confidence: 99%

Complement regulator CD46: genetic variants and disease associations

Liszewski

Atkinson

2015

Hum Genomics

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“…Moreover, the diagnosis of Hashimoto disease in the same woman is consistent with the reports of the current literature about the high incidence of autoimmune diseases in patients with HAE. The defective control of the classical pathway of complement activation leads to a deficiency in C4 and C2, a condition that increases the risk of developing an autoimmune disease [6, 8]. …”

Section: Discussionmentioning

confidence: 99%

Molecular Diagnosis and Management of Hereditary Angioedema in a Greek Family

Papadopoulou‐Alataki

Foerster

Antari

et al. 2008

Int Arch Allergy Immunol

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Background: Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent angioedema episodes caused by a quantitative or functional defect of the plasma protein C1 esterase inhibitor (C1-INH). Relapsing skin swellings, abdominal pain attacks and upper airway obstruction constitute the typical clinical manifestations. The incidence and severity of angioedema attacks are highly variable among HAE patients. Cases: We report on 4 patients with HAE type I, members of the same family, originating from a Greek island. The patients, 2 males and 2 females (aged 8–45 years) suffer from recurrent edema episodes (1–2 attacks/month). Skin swellings at the extremities and the face, abdominal episodes and laryngeal edema are the classical clinical triad, with significant variation in the severity and frequency of symptoms among our patients. The new missense mutation in exon 2 of the C1-INH gene, c.1A>G; p.Met-22Val (p.Met1Val), in a heterozygous form was detected in all our patients. Acute and severe attacks are successfully treated with administration of C1-INH concentrate. Conclusion: Variability of phenotypic expression of HAE was observed among the affected family members, despite carrying identical mutation of the C1-INH gene. Acute exacerbations of the disease are safely and effectively treated with C1-INH concentrate.

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“…Low mannose binding lectin (MBL) concentrations are present in 25 % of Eurasians and 50-60 % of people from sub-Sahara, but the vast majority of people remain healthy [4]. Hereditary angioedema (HAE) occurs in up to 1/10,000 individuals but does not predispose to infection and is only associated with autoimmune disease if poorly controlled [5]. We conducted a European-wide survey focusing on rare non-MBL/HAE primary complement immunodeficiency disorders.…”

Section: Introductionmentioning

confidence: 99%