Am J Med Genet. 1998 Mar 19;76(3):217-21.

Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature.

Manouvrier-Hanu S, Puech B, Piette F, Boute-Benejean O, Desbonnet A, Duquesnoy B, Farriaux JP.

Source

Consultation de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU, Lille, France.

Abstract

Blau syndrome (MK186580) comprises granulomatous arthritis, iritis, and skin rash, and is an autosomal-dominant trait with variable expressivity. So far it was described in 5 families. We report on a sixth family with severe progression of eye involvement and discuss the nosology with similar diseases, such as early-infantile sarcoidosis.

PMID:: 9508240; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Medical

Libraries

LinkOut Holdings

Supplemental Content

Save items

Related citations in PubMed

Familial granulomatous arthritis, iritis, and rash. [J Pediatr. 1985]
Familial granulomatous arthritis, iritis, and rash.
Blau EB. J Pediatr. 1985 Nov; 107(5):689-93.
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. [Sarcoidosis Vasc Diffuse Lung ...]
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up.
Priori R, Bombardieri M, Spinelli FR, Merlin F, Miceli-Richard C, La Cava M, Scavalli AS, Guerrisi R, Hugot JP, Valesini G. Sarcoidosis Vasc Diffuse Lung Dis. 2004 Oct; 21(3):228-31.
[Blau syndrome in monozygotic twins]. [Ugeskr Laeger. 2006]
[Blau syndrome in monozygotic twins].
Milman N, Hansen A, van Overeem Hansen T, Byg KE, Nielsen OH. Ugeskr Laeger. 2006 Oct 16; 168(42):3631-3.
Review Blau syndrome and related genetic disorders causing childhood arthritis. [Curr Rheumatol Rep. 2005]
Review Blau syndrome and related genetic disorders causing childhood arthritis.
Becker ML, Rose CD. Curr Rheumatol Rep. 2005 Dec; 7(6):427-33.
Review Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. [Ophthalmology. 2003]
Review Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation.
Kurokawa T, Kikuchi T, Ohta K, Imai H, Yoshimura N. Ophthalmology. 2003 Oct; 110(10):2040-4.

See reviews... See all...

Cited by 4 PubMed Central articles

NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. [Mol Vis. 2012]
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.
Xiang H, Zhang T, Chen M, Zhou X, Li Z, Yan N, Li S, Han Y, Gong Q, Liu X. Mol Vis. 2012; 18:617-23. Epub 2012 Mar 9.
Pediatric uveitis. [J Ophthalmic Vis Res. 2011]
Pediatric uveitis.
Tugal-Tutkun I. J Ophthalmic Vis Res. 2011 Oct; 6(4):259-69.
Review A concise review of pulmonary sarcoidosis. [Am J Respir Crit Care Med. 2011]
Review A concise review of pulmonary sarcoidosis.
Baughman RP, Culver DA, Judson MA. Am J Respir Crit Care Med. 2011 Mar 1; 183(5):573-81. Epub 2010 Oct 29.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family an...
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature.
Am J Med Genet. 1998 Mar 19 ;76(3):217-21.

PubMed
Circulating and intra-articular immune complexes in patients with rheumatoid art...
Circulating and intra-articular immune complexes in patients with rheumatoid arthritis. Correlation of 125I-Clq binding activity with clinical and biological features of the disease.
J Clin Invest. 1976 May ;57(5):1308-19.

PubMed
Cyr61, product of a growth factor-inducible immediate-early gene, regulates chon...
Cyr61, product of a growth factor-inducible immediate-early gene, regulates chondrogenesis in mouse limb bud mesenchymal cells.
Dev Biol. 1997 Dec 15 ;192(2):492-508.

PubMed
Hip involvement in ankylosing spondylitis.
Hip involvement in ankylosing spondylitis.
Arthritis Rheum. 1976 Jul-Aug ;19(4):683-92.

PubMed
Increased expression of TGF-beta receptors by scleroderma fibroblasts: evidence ...
Increased expression of TGF-beta receptors by scleroderma fibroblasts: evidence for contribution of autocrine TGF-beta signaling to scleroderma phenotype.
J Invest Dermatol. 1998 Jan ;110(1):47-51.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature.

Source

Abstract

Publication Types, MeSH Terms

Publication Types

MeSH Terms

LinkOut - more resources

Full Text Sources

Medical

Libraries

Supplemental Content

Save items

Related citations in PubMed

Cited by 4 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information