Journal of Pediatric Neurology
DOI: 10.1055/s-0040-1713682
Case Report
Georg Thieme Verlag KG Stuttgart · New York

NAXD Deficiency Associated with Perinatal Autoinflammation, Pancytopenia, Dermatitis, Colitis, and Cystic Encephalomalacia

1  Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
,
Gregor Dückers
2  Helios Children's Hospital, Krefeld, Germany
,
Carsten Speckmann
3  Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany
4  Center for Chronic Immunodeficiency (CCI), Medical Center, Institute for Immunodeficiency, Faculty of Medicine, University of Freiburg, Freiburg, Germany
,
Stephan Ehl
4  Center for Chronic Immunodeficiency (CCI), Medical Center, Institute for Immunodeficiency, Faculty of Medicine, University of Freiburg, Freiburg, Germany
,
Norbert Utz
2  Helios Children's Hospital, Krefeld, Germany
,
Bochen Cheng
5  BGI-Shenzhen and China National GeneBank, Shenzhen, China
,
Mingyan Fang
5  BGI-Shenzhen and China National GeneBank, Shenzhen, China
,
Tim Niehues
2  Helios Children's Hospital, Krefeld, Germany
,
1  Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
› Author Affiliations
Funding This study was funded by the Deutsche Forschungsgemeinschaft (German Research Foundation), under grant LU2342/1-1 to N.L. and grant 369799452/404459235 to M.L.K., and by the Shenzhen Municipal Government of China, under grant JCYJ20170817145536203 to M.F.
Further Information

Publication History

28 February 2020

18 May 2020

Publication Date:
20 July 2020 (online)

Abstract

NAD(P)HX dehydratase (NAXD) catalyzes the recovery of toxic derivatives of nicotinamide adenine dinucleotides which play an essential role in mitochondrial metabolism. Mutations in NAXD were recently shown to cause early-onset neurodegeneration exacerbated by febrile illness. Here, we report a novel homozygous stop-gain variant in NAXD in an infant who presented with a fulminant course of autoinflammation, dermatitis, colitis, and cystic encephalomalacia beginning at 3 weeks of age. Our findings support the central role of NAXD-mediated metabolite repair for normal tissue function and implicate innate immune processes in the pathogenesis of NAXD deficiency.

Supplementary Material