Author

S. von Hardenberg

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#edge computing Open access Oct 2026

Pleuroparenchymal fibroelastosis in a monogenic mitochondrial DNA depletion syndrome.

BACKGROUND Pleuroparenchymal fibroelastosis (PPFE) is a rare, most often idiopathic fibrotic lung disease with poor prognosis, mainly affecting adults. Biallelic pathogenic variants in the deoxyguanosine kinase gene (DGUOK) cause a mitochondrial DNA (mtDNA) depletion syndrome, predominantly affecting infants with sever...

S. von Hardenberg, Pia Maier, Leonard Christian et al. · European Respiratory Journal · 0 citations

Review Open access Aug 2026

Expanding the clinical spectrum of CD3γ deficiency: comprehensive characterization of adult-onset disease and integrated reevaluation of all reported patients

Objective CD3γ deficiency is an ultrarare autosomal recessive inborn error of immunity characterized by immune dysregulation and variable immunodeficiency. To date, only 16 predominantly pediatric cases have been reported. Here, we describe two additional adult patients with CD3γ deficiency and provide a comprehensive...

Raphaela Obeng, A. Elsayed, Amos Takyi et al. · Frontiers in Immunology · 0 citations

Open access Aug 2026

Truncating RELA variants drive autoinflammation and autoimmunity by impairing the negative feedback control of NF-κB

These findings establish RELA haploinsufficiency as a cause of systemic immune dysregulation and link defective NF-κB feedback control to unchecked inflammation and inflammatory cell death.

Nadja Lucas, S. Weidler, Antonia Eicher et al. · JCI Insight · 0 citations