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J F Setterfield

Publications and source records attributed to J F Setterfield.

8 recordsLinked to original sources
PubMed2006

Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris.

BACKGROUND: Pemphigus vulgaris (PV, OMIM 169610) is a severe blistering disorder of the skin and mucous membranes, caused by the production of autoantibodies directed against the epithelial adhesive protein desmoglein 3. Although an association between PV and HLA class II alleles has been established, the genetic factors predisposing to the disease remain poorly understood, the rarity of PV hampering the recruitment of substantial patient cohorts. OBJECTIVES: To investigate DSG3 as a candidate PV susceptibility gene. METHODS: We examined five DSG3 single nucleotide polymorphisms (rs8085532, rs3911655, rs3848485, rs3794925 and rs1466379) in two case-control datasets respectively originating from the U.K. (62 PV patients, 154 controls) and northern India (28 patients, 98 controls). RESULTS: In the U.K. sample, we observed a significant association between PV and the DSG3*TCCTC haplotype (Fisher's exact test P = 0.002). A related haplotype (DSG3*TCCCC) was associated with PV in the Indian dataset (P = 0.002). We also found that all British and Indian patients bearing DSG3 risk haplotypes carried at least one copy of a PV-associated HLA allele. CONCLUSIONS: These results suggest that genetic variation of DSG3 may be an additive risk factor predisposing to PV and warrant further investigations of this gene.

Case-Control Studies↗
PubMed2006

Bullous pemphigoid antigen II (BP180) and its soluble extracellular domains are major autoantigens in mucous membrane pemphigoid: the pathogenic relevance to HLA class II alleles and disease severity.

BACKGROUND: Mucous membrane pemphigoid (MMP), a chronic autoimmune subepithelial blistering disease, is associated with circulating IgG and/or IgA autoantibodies against several basement membrane zone antigens. The heterogeneity of clinical presentation and diversity of target autoantigens have contributed to difficulties in characterizing this condition immunologically. OBJECTIVES: To analyse serum autoantibody profile and HLA class II alleles in MMP patients and to correlate this with the clinical presentation of disease. METHODS: Well-defined subgroups consisting of 124 patients with MMP were examined for IgG and IgA reactivity with immunoblotting using human epidermal, dermal and placental amnion proteins. The results were further analysed on the basis of detailed clinical (sites of involvement and disease severity) and immunopathological criteria (immunofluorescence study and HLA class II alleles). RESULTS: Immunoblot assay revealed that the majority of MMP patients had IgG (93 of 124, 75%) and/or IgA autoantibodies (63 of 124, 51%) to BP180 (including its soluble ectodomains, 120-kDa LAD-1 and 97-kDa LABD97 antigens). Other antigens targeted predominantly by IgG autoantibodies included: BP230 in 34 (27%), beta4 integrin in 26 (21%), and laminin 5 in three (2%). All the BP230+ sera and 23 (88%) beta4 integrin+ sera also reacted with at least one of the BP180 antigens. Over 85% of patients with reactivity to beta4 integrin had ocular involvement. In most cases of MMP, more severe clinical features were associated with antibody reactivity to multiple basement membrane zone antigens, as well as reactivity to multiple BP180 component antigens. Dual BP180/LAD-1 reactivity with IgG and IgA was associated with a more severe phenotype. In addition, the subset-dependent autoantibody reactivity correlated well with specific HLA class II alleles, DQB1*0301, DRB1*04 and DRB1*11. CONCLUSIONS: Our results confirmed that BP180 is a major autoantigen targeted by the sera of patients with MMP. The disease-prevalent HLA class II alleles and humoral autoimmune response against the particular subsets of antigenic epitope(s) within BP180 ectodomain may contribute to the clinicopathological significance and disease severity of MMP.

Adult↗
PubMed2006

A swollen lip.

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Adult↗
PubMed2000

The management of oral lichen planus.

Oral lichen planus is a relatively common inflammatory disease affecting between 0.5% and 2.2% of the population in epidemiological studies. In contrast with cutaneous lichen planus (LP), in which the clinical course is often mild and resolves within 2 years, mucosal LP tends to follow a more chronic course often punctuated by acute exacerbations. Furthermore, although distinct clinical subtypes such as reticular, atrophic, hypertrophic and erosive forms are well recognized, more than one clinical phenotype may be seen at a time. The rare association with oral neoplasia should always be considered and high-risk patients must be kept under close observation. Thus the management of this disorder will vary widely both between patients, and for individual patients, with fluctuations in disease activity. Here we discuss the therapeutic options available and review the evidence for their use.

Adult↗
PubMed2000

Coma-induced bullae and sweat gland necrosis following clobazam.

Coma-induced bullae and sweat gland necrosis is a rare clinicopathological entity described in association with a variety of aetiopathological conditions all of which have resulted in an impairment of conscious level. We report the first case observed in association with clobazam, used as adjunctive therapy for resistant epilepsy in a 4-year old. The potential underlying mechanisms and previously reported associations are discussed.

Anti-Anxiety Agents↗