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

Abstract

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.

• Authors: S R Dahlqvist, B Lundström, G Holmgren
• Journal: Annals of the rheumatic diseases (Ann Rheum Dis) Vol. 48 Issue 9 Pg. 760-4 (Sep 1989) ISSN: 0003-4967 [Print] England
• PMID: 2802798 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Anaphylatoxins
• Complement C4a

Topics

• Abnormalities, Multiple (genetics, immunology)
• Adolescent
• Aged
• Alleles
• Anaphylatoxins (genetics)
• Complement C4a (genetics)
• Female
• Fingers (abnormalities)
• Genes, Dominant
• Hair Diseases (genetics)
• Homozygote
• Humans
• Lupus Erythematosus, Systemic (complications, genetics, immunology)
• Male
• Middle Aged
• Nose (abnormalities)
• Pedigree
• Syndrome