Familial aggregation of lupus and autoimmunity in an unusual multiplex pedigree.
OBJECTIVE
To evaluate an unusual pedigree with 8 members diagnosed with systemic lupus erythematosus (SLE) METHODS: Pedigree members were evaluated through questionnaires, interviews, and medical records. Sixty members contributed serum samples for autoantibody analysis.


RESULTS
The 8 affected females shared several disease features, including arthritis (8/8), antinuclear antibodies (ANA) (8/8), pleuritis (6/8), malar rash (6/8), photosensitivity (5/8), and nephritis (4/8). A total of 15 of 51 (29%) blood relatives had autoantibodies; 9 had autoimmune disease, including 7 with SLE, one with psoriasis, and one with Sjögren's syndrome. Five of 11 (45%) nonconsanguineous spouses also had autoantibodies; one spouse had SLE, and 2 others had thyroid disease. Among 68 spouses of patients with SLE in other pedigrees, only 9 (13%) had autoantibodies, and none were symptomatic (p = 0.02).


CONCLUSIONS
The high rate of autoimmunity among both blood relatives and nonconsanguineous mates in this unusual pedigree suggests a complex interaction of genetic and environmental factors contributing to disease.
University of Oklahoma Health Sciences Center, Oklahoma Medical Research Foundation, Oklahoma City 73104, USA.
A L
AL
Sestak
T S
TS
Shaver
K L
KL
Moser
B R
BR
Neas
J B
JB
Harley
D000022:Abortion, Spontaneous / Q000453:epidemiology / Q000209:etiology; D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000032:analysis; D001327:Autoimmune Diseases / Q000235:genetics / Q000503:physiopathology; D015551:Autoimmunity; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D012737:Sex Factors
D001323:Autoantibodies