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001-es BibID:	BIBFORM007141
Első szerző:	Szűcs Gabriella (belgyógyász, allergológus és klinikai immunológus, reumatológus)
Cím:	Systemic sclerosis-rheumatoid arthritis overlap syndrome : a unique combination of features suggests a distinct genetic, serological and clinical entity / Szucs, G., Szekanecz, Z., Zilahi, E., Kapitany, A., Barath, S., Szamosi, S., Vegvari, A., Szabo, Z., Szanto, S., Czirjak, L., Kiss, C. Gyorgy
Dátum:	2007
ISSN:	1462-0324 (Print)
Megjegyzések:	To determine the genetic, clinical and serological characteristics of systemic sclerosis (SSc)-rheumatoid arthritis (RA) overlap syndrome. METHODS: Clinical manifestations and immunolaboratory features of 22 SSc-RA patients were assessed. The HLA-DR genotype of the 22 SSc-RA patients determined by SSP-PCR was compared with that of 38 SSc patients, 100 RA patients and 50 healthy controls. RESULTS: All overlap patients fulfilled the American College of Rheumatology (ACR) criteria for SSc and RA. Five of the 22 patients (23%) had diffuse cutaneous SSc (dcSSc) and 17 patients (77%) had limited cutaneous SSc (lcSSc). Antinuclear antibody, anti-Scl70, IgM rheumatoid factor and anti-CCP antibody positivity were detected in 22 (100%), 5 (23%), 16 (73%) and 18 patients (82%), respectively. Seventeen patients (77%) had pulmonary fibrosis, 12 (55%) had oesophageal dismotility, 11 (50%) had cardiac and five (23%) had renal involvement. Hand joint destruction was observed in 18 patients (82%). Significantly increased frequencies of HLA-DR3 (36% vs 5%), HLA-DR7 (9% vs 4%), HLA-DR11 (36% vs 7%) and HLA-DRw53 (23% vs 5%) were observed in SSc-RA compared with RA patients (P < 0.05). Allele frequencies of the 'shared epitope' (HLA-DR1 and -DR4) were significantly increased in SSc-RA (32% and 27%, respectively) and RA patients (46% and 31%, respectively) in comparison with SSc patients (10.5% and 16%, respectively) or healthy controls (16% and 14%, respectively) (P < 0.05). CONCLUSIONS: To date this is the largest SSc-RA overlap cohort. Genetics, clinical and immunolaboratory features suggest a mixed phenotype. Our data suggest that SSc-RA overlap syndrome may be a distinct genetic, immunological and clinical entity.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Adult Aged Arthritis, Rheumatoid Autoantibodies Esophageal Motility Disorders Female Gene Frequency Genotype Humans Male Middle Aged Polymerase Chain Reaction Pulmonary Fibrosis Scleroderma, Systemic Syndrome
Megjelenés:	Rheumatology. - 46 : 6 (2007), p. 989-993. -
További szerzők:	Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus) Zilahi Erika (1964-) (molekuláris biológus) Kapitány Anikó (1979-) (molekuláris biológus) Baráth Sándor (1977-) (biológus) Szamosi Szilvia (1975-) (belgyógyász, reumatológus) Végvári Anikó (belgyógyász, III. sz. Belgyógyászati Klinika) Szabó Zoltán (1970-) (belgyógyász, reumatológus) Szántó Sándor (1968-) (belgyógyász, reumatológus) Czirják László Kiss Csaba György
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001-es BibID:	BIBFORM040672
035-os BibID:	PMID:16331753
Első szerző:	Zsilák Szilvia
Cím:	HLA-DR genotypes in familial rheumatoid arthritis : increased frequency of protective and neutral alleles in a multicase family / Szilvia Zsilák, János Gál, László Hodinka, Katalin Rajczy, Attila Balog, Sándor Sipka, Sándor Baráth, Anikó Kapitány, Erika Zilahi, Zoltán Szekanecz
Dátum:	2005
Megjegyzések:	We describe a unique family where each of the 5 siblings in the second generation has rheumatoid arthritis (RA). Two other members of the family have RA and systemic lupus erythematosus (SLE), respectively. No members of previous generations in the family had documented inflammatory arthritis. Due to the suspected genetic predisposition, HLA-DR genotypes were determined in the affected siblings and their parents, children, and grandchildren. We investigated the possible role of various HLA-DR alleles in the evolution of RA in this multicase family. METHODS: HLA-DRB1* alleles were determined by polymerase chain reaction using the sequence-specific primer-Olerup method. RESULTS: The most common alleles in the 6 persons with RA were HLA-DRB107 and DRB115, which are known to be protective and neutral in RA. No patient or family member carried any HLA-DR4 alleles. CONCLUSION: HLA-DRB107 and DRB115 alleles are thought to be protective or neutral in RA. However, the majority of RA patients in the family and nearly half of all family members carried these alleles, suggesting a role of these genotypes in susceptibility to RA. No RA patient in this family carried HLA-DR4 alleles. Thus, in our rare family with 6 RA cases, an unexpected genetic background may be involved in the increased susceptibility to inflammatory arthritis.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Adult Arthritis, Rheumatoid Female Gene Frequency Genetic Predisposition to Disease Genotype HLA-DR Antigens Humans Lupus Erythematosus, Systemic Male egyetemen (Magyarországon) készült közlemény
Megjelenés:	The Journal of Rheumatology. - 32 : 12 (2005), p. 2299-2302. -
További szerzők:	Gál János Hodinka László Rajczy Katalin Balog Attila Sipka Sándor (1945-) (laboratóriumi szakorvos) Baráth Sándor (1977-) (biológus) Kapitány Anikó (1979-) (molekuláris biológus) Zilahi Erika (1964-) (molekuláris biológus) Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus)
Internet cím:	Szerző által megadott URL Intézményi repozitóriumban (DEA) tárolt változat
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