Rheumatoid arthritis in the 46, XX, 18p‐ syndrome

Finley, Sara; Finley, Wayne H.; Johnson, Julie; DODSON, WILLIAM H.; McPhee, H. T.

doi:10.1111/j.1399-0004.1972.tb01482.x

Cited by 9 publications

(5 citation statements)

References 14 publications

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“…The unique feature of our patient was her late onset of RA compared to the early JRA previously reported 5 – 9 , 10 . Our patient was RF positive, anti-CCP negative and met 9/10 of the 2010 American College of Rhematology (ACR) Clinical Classification Criteria for RA 7 . To the best of our knowledge there have been seven reported, and six published, cases of RA associated with chromosome 18 abnormalities ( Table 1 ).…”

Section: Discussionmentioning

confidence: 70%

“…Daentl first mentioned an unpublished case of JRA in a patient with 18p- and IgA deficiency 8 . In the first published case, Finley et al reported a 9-month-old female with 18p-, swelling and contractures in many joints, fever, rash, and hepatosplenomegaly, consistent with JRA 7 . JRA has subsequently been associated with cases of 18q- as well 6 , 8 , 11 .…”

Section: Discussionmentioning

confidence: 99%

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Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18

et al. 2018

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Ring chromosome 18 has a highly variable phenotype, depending on the extent of distal arm deletions. It is most commonly presented as a combination of 18p- and distal 18q- syndrome. IgA deficiency and autoimmune diseases have been previously described in these patients. Seven cases of juvenile rheumatoid arthritis (JRA) have been reported. Here we report the first case of late onset rheumatoid arthritis (RA) in a 32 year old Dominican woman with hypothyroidism, vitiligo, IgA deficiency, interstitial lung disease (ILD), cystic bronchiectasis, and features consistent with ringed 18, 18p- and distal 18q syndrome. The multiple autoimmune findings in our patient lends further support to the idea of loci on chromosome 18 playing a role in autoimmune disease expression. Late onset RA and ILD in a patient with chromosome 18 abnormalities are novel findings and are additional conditions to be aware of in this population.

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Section: Discussionmentioning

confidence: 70%

Section: Discussionmentioning

confidence: 99%

Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18

et al. 2018

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“…However, there has also been a suggestion of a link between PTPN2 and rheumatoid arthritis and type 1 diabetes [Todd et al, ; Okada et al, ]. Rheumatoid arthritis has been reported in individuals with 18p‐ [Finley et al, ; Czakó et al, ; Recalcati et al, ]. Thus, it seems plausible that PTPN2 plays a role in etiology of autoimmune disease.…”

Section: Gene Dosage Mapmentioning

confidence: 99%

“…As the number of case reports increased, additional findings were described, to include speech and language difficulties, pituitary abnormalities, and, in some cases, IgA deficiency [Schinzel et al, ; Artman et al, ; Gul et al, ; Schober et al, ; McGoey et al, ]. More recently, the phenotype has expanded to include dystonia and autoimmune conditions, such as rheumatoid arthritis [Finley et al, ; Gluckman, ; Jones, 1982; Brown et al, ; Graziadio et al, ; Postma et al, ; Recalcati et al, ; Kowarik et al, ]. As is the case with many chromosomal abnormalities, however, the earliest reports had little information about breakpoints or genotype–phenotype correlations.…”

Section: Introductionmentioning

confidence: 99%

A review of 18p deletions

Hasi-Zogaj

Sebold

Heard³

et al. 2015

American J of Med Genetics Pt C

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Since 18p- was first described in 1963, much progress has been made in our understanding of this classic deletion condition. We have been able to establish a fairly complete picture of the phenotype when the deletion breakpoint occurs at the centromere, and we are working to establish the phenotypic effects when each gene on 18p is hemizygous. Our aim is to provide genotype-specific anticipatory guidance and recommendations to families with an 18p- diagnosis. In addition, establishing the molecular underpinnings of the condition will potentially suggest targets for molecular treatments. Thus, the next step is to establish the precise effects of specific gene deletions. As we look forward to deepening our understanding of 18p-, our focus will continue to be on the establishment of robust genotype-phenotype correlations and the penetrance of these phenotypes. We will continue to follow our 18p- cohort closely as they age to determine the presence or absence of some of these diagnoses, including spinocerebellar ataxia (SCA), facioscapulohumeral muscular dystrophy (FSHD), and dystonia. We will also continue to refine the critical regions for other phenotypes as we enroll additional (hopefully informative) participants into the research study and as the mechanisms of the genes in these regions are elucidated. Mouse models will also be developed to further our understanding of the effects of hemizygosity as well as to serve as models for treatment development.

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“…Our patient was RF positive, anti-CCP negative and met 9/10 of the 2010 American College of Rhematology (ACR) Clinical Classification Criteria for RA 7 . To the best of our knowledge there have been seven reported, and six published, cases of RA associated with chromosome 18 abnormalities ( Table 1).…”

Section: Discussionmentioning

confidence: 70%