ESPE Abstracts

ESPE Abstracts

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hrp0089p1-p050 | Diabetes & Insulin P1 | ESPE2018

NBAS Gene Mutation Causes Insulin-Dependent Diabetes Mellitus in a Patient with a Multisystem Disorder Consisting Immunodeficiency and Extremely Short Stature

Giatropoulou Sofia , Konig Rainer , Wudy Stefan A. , Speckmann Carsten , Kury Patrick , Fischer-Zirnsak Bjorn , Clemens Kamrath

We report the case of a 19 years old male patient suffering from a multisystem disease involving of the skeleton, connective tissue, immune system, brain and endocrine system due to compound-heterozygote mutations in the NBAS (Neuroblastoma amplified sequence) gene (c.5741G>A [p.(Arg1914His)]; c.6565_6566insT [p.(Glu2189Valfs*7)]), detected using whole-exome-sequencing. He has an immunodeficiency including decreased CD4+T-cells, B-cells and NK-cells with expanded ...
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hrp0089rfc11.4 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

A New Form of Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused By Abolished Store-Operated Ca2+ Entry

Cuk Mario , Lian Jayson , Kahlfuss Sascha , Kozhaya Lina , Vaeth Martin , Rieux-Laucat Frederic , Picard Capucine , Benson Melina J , Jakovcevic Antonia , Bilic Karmen , Martinac Iva , Stathopulos Peter , Kacskovics Imre , Vraetz Thomas , Speckmann Carsten , Ehl Stephan , Issekutz Thomas , Unutmaz Derya , Feske Stefan

Calcium signaling is fundamental to many cellular processes. An important pathway for increasing intracellular Ca2+ levels is store-operated Ca2+ entry (SOCE) regulated by stromal interaction molecule (STIM1-2), and Ca2+ channels formed by ORAI1-3 proteins. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms. We present patients with Anhidrotic Ectodermal Dyspl...
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