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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
Tuberkulose – Update 2022
Weltweit stellen nach Schätzungen der Weltgesundheitsorganisation (WHO) Kinder und Jugendliche unter 15 Jahren etwa 11 % aller Tuberkulose(TB)-Fälle dar, etwa die Hälfte davon ist jünger als 5 Jahre. Dieser CM...
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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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Article
Open AccessCorrection to: Pilot study to identify missed opportunities for prevention of childhood tuberculosis
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Open AccessPilot study to identify missed opportunities for prevention of childhood tuberculosis
Tuberculosis (TB) in exposed children can be prevented with timely contact tracing and preventive treatment. This study aimed to identify potential barriers and delays in the prevention of childhood TB in a lo...
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Article
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
Safety of tenofovir during pregnancy: early growth outcomes and hematologic side effects in HIV-exposed uninfected infants
Intrauterine exposure to zidovudine-based combination antiretroviral therapy (cART) can cause severe anemia within the first weeks of life. Tenofovir disoproxil fumarate (TDF)–based regimens may have less hema...
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Article
Open AccessPeriorbital infections and conjunctivitis due to Panton-Valentine Leukocidin (PVL) positive Staphylococcus aureus in children
Colonisation with Panton-Valentine Leukocidin expressing strains of Staphylococcus aureus (PVL + SA) is characterised by recurrent skin and soft tissue infections. While periorbital and orbital infections are com...
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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
Open Access4th Pediatric Allergy and Asthma Meeting (PAAM)
WORKSHOP 4: Challenging clinical scenarios (CS01–CS06)
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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...
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Article
Dünnschicht-Chromatographie vegetabilischer Gerbextrakte auf Polyamidfertigschichten
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Versuche zur Dünnschicht-Chromatographie von Flavonoiden auf Fertigschichten
The thin-layer chromatographic behaviour of flavonoids as a function of their constitution corresponds fundamentally to the behaviour of the phenols. Analytical conditions for the separation of various flaveno...
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Article
Dünnschicht-Chromatographie vegetabilischer Gerbextrakte auf Fertigschichten
A description is given of thin-layer Chromatographic procedures for the separation of vegetable tanning materials (extracts and barks) on Eastman Chromagram Sheets made of polyamide and Gelman Silicagel Sheets...