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

Shitij Arora, Alanna Chau, K.h. Ramesh, Anand D. Jagannath

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Article number1940
JournalF1000Research
Volume6
DOIs
StatePublished - Jan 1 2018

Fingerprint

Chromosomes
IgA Deficiency
Chromosomes, Human, Pair 18
Rheumatoid Arthritis
Pulmonary diseases
Interstitial Lung Diseases
Immunoglobulin A
Autoimmune Diseases
Deficiency Diseases
Vitiligo
Bronchiectasis
Juvenile Arthritis
Hypothyroidism
Chromosome Aberrations
Phenotype
Population
Chromosome 18 ring
Chromosome 18 deletion syndrome

Keywords

  • Interstitial lung disease
  • Rheumatoid arthritis
  • Ring chromosome 18

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)
  • Pharmacology, Toxicology and Pharmaceutics(all)

Cite this

Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18. / Arora, Shitij; Chau, Alanna; Ramesh, K.h.; Jagannath, Anand D.

In: F1000Research, Vol. 6, 1940, 01.01.2018.

Research output: Contribution to journalArticle

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