9 Result(s)
within
Renate Krüger
Biomedicine
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Article
Open AccessThe GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation
Patient registries are a very important and essential tool for investigating rare diseases, as most physicians only see a limited number of cases during their career. Diseases of multi-organ autoimmunity and a...
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Article
Open AccessProspective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019.
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Article
Open AccessIRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation
Besides their developmental and neurological phenotype, most patients with MECP2/IRAK1 duplication syndrome present with recurrent and severe infections, accompanied by strong inflammation. Respiratory infections...
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Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie
Severe combined immunodeficiencies (SCID) are a heterogeneous group of fatal genetic disorders, in which the immune response is severely impaired. SCID can be cured if diagnosed early. We aim to determine the ...
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Article
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency
NEMO-deficient patients present with variable degrees of immunodeficiency. Accordingly, treatment ranges from antibiotic prophylaxis and/or IgG-substitution to allogenic hematopoietic stem cell transplantation...
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Article
Persistent Skin Pouches Following Subcutaneous Immunoglobulin Infusions in a Girl with Immunodeficiency, Bullous Skin Lesions and Melanosis Oculi
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Article
High seroprevalence of antibodies against Kaposi’s sarcoma-associated herpesvirus (KSHV) among HIV-1-infected children and adolescents in a non-endemic population
Human herpesvirus-8 (HHV-8) is the etiological agent of Kaposi’s sarcoma (KS), which primarily affects human immunodeficiency virus (HIV)-infected adults with advanced immunodeficiency. Currently, only limited...
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Article
Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
MECP2 (methyl CpG binding protein 2) duplication causes syndromic intellectual disability. Patients often suffer from life-threatening infections, suggesting an additional immunodeficiency. We de...
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Article
Variants in CPA1 are strongly associated with early onset chronic pancreatitis
Heiko Witt, Miklós Sahin-Tóth and colleagues show that loss-of-function variants in CPA1 are strongly associated with early onset chronic pancreatitis. On the basis of their findings, they propose that the mechan...
