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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
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
Open Access4th Pediatric Allergy and Asthma Meeting (PAAM)
WORKSHOP 4: Challenging clinical scenarios (CS01–CS06)
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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...