TY  - JOUR
A1  - Eberhardt, Christiane S.
A1  - Haas, Johannes-Peter
A1  - Girschick, Hermann
A1  - Schwarz, Tobias
A1  - Morbach, Henner
A1  - Rösen-Wolff, Angela
A1  - Foell, Dirk
A1  - Dannecker, Guenther
A1  - Schepp, Carsten
A1  - Ganser, Gerd
A1  - Honke, Nora
A1  - Eggermann, Thomas
A1  - Müller-Berghaus, Jan
A1  - Wagner, Norbert
A1  - Ohl, Kim
A1  - Tenbrock, Klaus
T1  - No association of IL-12p40 pro1.1 polymorphism with juvenile idiopathic arthritis
JF  - Pediatric Rheumatology
N2  - Background: IL-12p40 plays an important role in the activation of the T-cell lines like Th17 and Th1-cells. Theses cells are crucial in the pathogenesis of juvenile idiopathic arthritis. A polymorphism in its promoter region and the genotype IL12p40 pro1.1 leads to a higher production of IL-12p40. We studied whether there is a difference in the distribution of the genotype in patients with JIA and the healthy population. 
Methods: In 883 patients and 321 healthy controls the IL-12p40 promoter genotype was identified by ARMS-PCR. 
Results: There is no association of IL-12p40 pro polymorphism neither in patients with JIA compared to controls nor in subtypes of JIA compared to oligoarthritis. We found a non-significant tendency of a higher prevalence of the genotype pro1.1 in systemic arthritis (32.4 %) and in rheumatoid factor negative polyarthritis (30.5 %) and a lower pro1.1 genotype in persistent oligoarthritis (20.7 %) and in enthesitis-related arthritis (17 %). Likelihood of the occurrence of genotype IL12-p40 pro1.1 in patients with systemic arthritis (OR 1.722, CI 95 % 1.344-2.615, p 0.0129) and RF-negative polyarthritis (OR 1.576, CI 95 % 1.046-2.376, p 0.0367) compared to persistent oligoarthritis was significantly higher. This was also true for comparison of their homozygous genotypes IL-12p40 pro 1.1 and 2.2 in systemic arthritis (OR 1.779, CI 95 % 1.045-3.029, p 0.0338). However, in Bonferroni correction for multiple hypothesis this was not significant. 
Conclusion: A tendency of a higher prevalence of the genotype IL-12p40 pro1.1 in systemic arthritis and in rheumatoid factor negative polyarthritis was observed but not significant. Further investigations should be done to clarify the role IL-12p40 in the different subtypes of JIA.
KW  - polymorphism
KW  - cytokine
KW  - children
KW  - serum
KW  - IL12B
KW  - gene
KW  - cells
KW  - juvenile idiopathic arthritis
KW  - IL-12p40
KW  - IL-12B
KW  - promoter
Y1  - 2015
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-136281
VL  - 13
IS  - 61
ER  - 
TY  - JOUR
A1  - Girschick, Hermann
A1  - Wolf, Christine
A1  - Morbach, Henner
A1  - Hertzberg, Christoph
A1  - Lee-Kirsch, Min Ae
T1  - Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene
JF  - Pediatric Rheumatology
N2  - Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia, characterized by metaphyseal lesions, neurological impairment and immune dysregulation associated with lupus-like features. SPENCD is caused by biallelic mutations in the ACP5 gene encoding tartrate-resistant phosphatase. We report on a child, who presented with spasticity, multisystem inflammation, autoimmunity and immunodeficiency with minimal metaphyseal changes due to compound heterozygosity for two novel ACP5 mutations. These findings extend the phenotypic spectrum of SPENCD and indicate that ACP5 mutations can cause severe immune dysregulation and neurological impairment even in the absence of metaphyseal dysplasia.
KW  - resistant acid phosphatase
KW  - expression
KW  - systemic lupus erythematosus
KW  - cerebral calcification
KW  - deficiency
KW  - autoimmunity
KW  - dysplasia
KW  - trap
KW  - spondyloenchondrodysplasia
KW  - ACP5
KW  - immunodeficiency
KW  - type I interferonopathy
Y1  - 2015
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-149990
VL  - 13
IS  - 37
ER  -