Trichorhinophalangeal syndrome type I and systemic lupus erythematosus with complement C4A homozygous null alleles in the same family.

A three generation family from northern Sweden with both trichorhinophalangeal syndrome type I (TRP I) and systemic lupus erythematosus (SLE)-like syndrome with complement C4 homozygous null alleles is described. Five family members in three generations were affected by the TRP I syndrome, indicatin...

Full description

Bibliographic Details
Published in:Annals of the Rheumatic Diseases
Main Authors: Dahlqvist, S R, Lundström, B, Holmgren, G
Format: Text
Language:English
Published: British Medical Journal Publishing Group 1989
Subjects:
Research Article
Northern Sweden
Online Access:http://ard.bmj.com/cgi/content/short/48/9/760
https://doi.org/10.1136/ard.48.9.760
Description
Summary:A three generation family from northern Sweden with both trichorhinophalangeal syndrome type I (TRP I) and systemic lupus erythematosus (SLE)-like syndrome with complement C4 homozygous null alleles is described. Five family members in three generations were affected by the TRP I syndrome, indicating autosomal dominant inheritance. Two members had clinical and laboratory signs of SLE and two other members SLE-like syndrome. All living family members in the first and second generation had homozygous C4A null alleles. In three of the adults the two syndromes occurred simultaneously, probably in this family by coincidence.

Similar Items