Marielle Alders

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Autosomal dominant Hyper IgE syndrome (AD-HIES) is a rare and complex primary immunodeficiency that affects multiple systems. Mutations in signal transducer and activator of transcription 3 (STAT3) gene cause AD-HIES. These mutations have a dominant-negative effect and the presence of such mutations is associated with a clinical phenotype. We aim to(More)
Patients with Shwachman-Diamond syndrome (SDS) do not only experience well-described physical features like skeletal abnormalities and hematological dysfunctions, but recent studies also suggested attention and working memory deficits in SDS. Indeed, a recent structural magnetic resonance imaging (MRI) study demonstrated smaller brain regions in SDS.(More)
Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in situ (CIS) or gonadoblastoma (GB) as precursor lesion. In 10-15% of 46,XY gonadal dysgenesis cases (i.e.,(More)
We describe here the case of a boy who presented with pulmonary infections, feeding difficulties due to velopharyngeal insufficiency and gastroesophageal reflux, myopathy, and hypotonia soon after birth. Later, he was also found to have an elevated immunoglobulin (Ig) E and mild eczema and was diagnosed with inflammatory bowel disease. Further immunological(More)
The homeodomain factor Nkx2-5 is expressed in cardiac progenitor cells of the first and second heart fields, and in differentiating cardiomyocytes and conduction cells. NKX2-5 mutations cause congenital heart disease (CHD) and conduction disease (CD) in humans. Nkx2-5 acts as both a repressor and an activator, and one of its early roles is to repress,(More)
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