Autophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in ATG9A

Author:

Hu Guowu12,Hauk Pia J34,Zhang Nannan1,Elsegeiny Waleed1,Guardia Carlos M.5,Kullas Amy1,Crosby Kevin1,Deterding Robin R.6,Schedel Michaela378,Reynolds Paul3,Abbott Jordan K34,Knight Vijaya4,Pittaluga Stefania2,Raffeld Mark9,Rosenzweig Sergio D.9,Bonifacino Juan S.5,Uzel Gulbu1,Williamson Peter R.1,Gelfand Erwin W.3

Affiliation:

1. Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA

2. Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

3. Divisions of Allergy and Immunology and Cell Biology and Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO, USA

4. Section Pediatric Allergy and Immunology, Children’s Hospital, Colorado, Aurora, CO, USA

5. Section on Intracellular Protein Trafficking, Neurosciences and Cellular and Structural Biology Division, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA

6. Section Pediatric Pulmonary Medicine, Children’s Hospital, Colorado, Aurora, CO, USA

7. Department of Pulmonary Medicine, University Medicine Essen-Ruhrlandklinik, Essen, Germany

8. Department of Pulmonary Medicine, University Medicine Essen, University Hospital, Essen, Germany

9. Immunology Service, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, USA

Publisher

Informa UK Limited

Subject

Cell Biology,Molecular Biology

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