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  - 
TY  - JOUR
A1  - von Bernuth, Horst
A1  - Ravindran, Ethiraj
A1  - Du, Hang
A1  - Froehler, Sebastian
A1  - Strehl, Karoline
A1  - Kraemer, Nadine
A1  - Issa-Jahns, Lina
A1  - Amulic, Borko
A1  - Ninnemann, Olaf
A1  - Xiao, Mei-Sheng
A1  - Eirich, Katharina
A1  - Koelsch, Uwe
A1  - Hauptmann, Kathrin
A1  - John, Rainer
A1  - Schindler, Detlev
A1  - Wahn, Volker
A1  - Chen, Wei
A1  - Kaindl, Angela M.
T1  - Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)
JF  - Orphanet Journal of Rare Dieeases
N2  - The autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial anomalies. ICF2, caused by biallelic ZBTB24 gene mutations, is acknowledged primarily as an isolated B-cell defect. Here, we extend the phenotype spectrum by describing, in particular, for the first time the development of a combined immune defect throughout the disease course as well as putative autoimmune phenomena such as granulomatous hepatitis and nephritis. We also demonstrate impaired cell-proliferation and increased cell death of immune and non-immune cells as well as data suggesting a chromosome separation defect in addition to the known chromosome condensation defect.
KW  - ZBTB24
KW  - ICF2
KW  - granulomas
KW  - facial anomalies
KW  - centromeric instability
KW  - intellectual disability
KW  - lymphoma
KW  - ZBTB24 mutations
KW  - DNMT3B
KW  - TYPE-2
KW  - immunodeficiency
KW  - microcephaly
KW  - DNA methyltransferase gene
Y1  - 2014
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-114859
VL  - 9
ER  -