Difference in HLA‐linked genetic background between mixed connective tissue disease and systemic lupus erythematosus

Dong, Rui-Ping; Kimura, Asako; Hashimoto, Hiroshi; Akizuki, Masashi; Nishimura, Yasuharu; Sasazuki, Takehiko

doi:10.1111/j.1399-0039.1993.tb01972.x

Cited by 57 publications

(37 citation statements)

References 24 publications

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“…Ruuska et a1 found an association between MCTD and DR4 (Dw4 subtype) or the B15,DR4 combination (15). In Japanese patients, MCTD was found to be associated with HLA-DRB 1 *0401 (corresponding to the T cell-defined Dw4 subtype) (37). An association of HLA-DR4 and DRw53 with antibodies to the 70-kd polypeptide of U1 RNP in patients with MCTD and SLE has been reported (38).…”

Section: Discussionmentioning

confidence: 98%

Hla type as a predictor of mixed connective tissue disease differentiation ten‐year clinical and immunogenetic followup of 46 patients

Gendi

Welsh

Venrooij

et al. 1995

Arthritis & Rheumatism

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Objective. To determine any clinical or genetic markers of differentiation and outcome in a previously described cohort of 46 patients with mixed connective tissue disease (MCTD).Methods. Patients were clinically evaluated, chart notes reviewed, and HLA subtyping and immunology profiles performed where possible. Eleven had died and 7 were lost to followup.Results. MCTD had differentiated into systemic lupus erythematosus in 12 patients and into systemic sclerosis in 13. The latter was associated with HLA-DR5 (P = 0.038), and nondifferentiation was associated with HLA-DR2 or DR4 (P = 0.007). Three HLA-DR4 positive patients had MCTD that evolved into rheumatoid arthritis. Erosive and/or deforming arthritis was associated with HLA-DR1 or DR4 (P = 0.015). HLA-DR3 was associated with interstitial lung fibrosis (P = 0.044) and keratoconjunctivitis sicca (0.001 < P < 0.01). Severe Raynaud's phenomenon predicted higher mortality (0.01 < P < 0.05). Conclusion.We suggest that MCTD is, for most patients, an intermediate stage in a genetically determined progression to a recognized connective tissue disease. Those whose disease remains undifferentiated might be considered a distinct subset.

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Section: Discussionmentioning

confidence: 98%

Hla type as a predictor of mixed connective tissue disease differentiation ten‐year clinical and immunogenetic followup of 46 patients

Gendi

Welsh

Venrooij

et al. 1995

Arthritis & Rheumatism

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“…Furthermore, the frequency of the DRBI*1501-DQAI*OIO21-DQBI*0602 haplotype is higher in patients with systemic lupus erythematodes (32.1%) (Dong et al, 1993) and moyamoya disease (25%) than in the controls.…”

Section: Discussionmentioning

confidence: 87%

DNA typing of HLA in the patients with moyamoya disease

et al. 1997

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“…The high incidence of MPO-ANCA-related vasculitis in East Asia is assumed to be linked to Human Leukocyte Antigen (HLA) haplotypes, particularly HLA-DRB1*09:01, one of the most common HLA-DRB1 alleles in Asians but rare in Caucasian populations (Tsuchiya 2013). In contrast, the frequencies of HLA-DRB1*09:01, HLA-DRB1*04:01, HLA-DRB4*01:01, HLA-DQA1*03 were significantly increased in patients with MCTD (Dong et al 1993). Interestingly, our patient's HLA genotype is HLA-DRB1*09:01 as well.…”

Section: Gpamentioning

confidence: 81%

Pulmonary-Limited Granulomatosis with Polyangiitis Coexisting with Mixed Connective Tissue Disease

Ando

Goto

Yamasue

et al. 2017

Tohoku J. Exp. Med.

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Granulomatosis with polyangiitis (GPA) is a systemic disease characterized by necrotizing, granulomatous vasculitis of the upper and lower respiratory tracts and glomerulonephritis, and is classified as a classical or limited form. The classical form of GPA demonstrates the involvement of the upper respiratory tract, sinuses, lungs and kidneys, whereas the limited form is characterized by the lack of the renal involvement with female predominance. On the other hand, mixed connective tissue disease (MCTD) shows the clinical and laboratorial features of systemic lupus erythematosus, systemic sclerosis and polymyositis, along with high titers of anti-ribonucleoprotein antibodies and is characterized by good response to corticosteroid therapy and favorable prognosis. We herein report a patient with a history of MCTD that developed into a limited form of GPA (pulmonary-limited GPA). A 39-year-old woman suffered from persistent cough, left back pain and appetite loss. At 21 years of age she was diagnosed with MCTD, but the persistent administration of prednisolone or immunosuppressants was not needed. On admission, high-resolution chest computed tomography showed bilateral, multiple, poorly circumscribed nodules and masses, some of which showed cavitation. A surgical lung biopsy demonstrated granulomas with vasculitis surrounding the necrotic lesions. She was diagnosed with pulmonary-limited GPA. In conclusion, we should recognize that GPA may develop during the disease course of MCTD even after prolonged disease remission. To prevent progression to an irreversible state, physicians should consider a surgical lung biopsy for the diagnosis in patients suspected of having pulmonary-limited GPA.

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Difference in HLA‐linked genetic background between mixed connective tissue disease and systemic lupus erythematosus

Cited by 57 publications

References 24 publications

Hla type as a predictor of mixed connective tissue disease differentiation ten‐year clinical and immunogenetic followup of 46 patients

Hla type as a predictor of mixed connective tissue disease differentiation ten‐year clinical and immunogenetic followup of 46 patients

DNA typing of HLA in the patients with moyamoya disease

Pulmonary-Limited Granulomatosis with Polyangiitis Coexisting with Mixed Connective Tissue Disease

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