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A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy

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  1. Article

    Open Access

    Prospective 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.

    Carsten Speckmann, Uta Nennstiel, Manfred Hönig… in Journal of Clinical Immunology (2023)

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  2. Article

    Open Access

    NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

    Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study...

    Dominic Lenz, Jens Pahl, Fabian Hauck, Seham Alameer… in Journal of Clinical Immunology (2021)

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