Biallelic Human Sharpin Loss of Function Induces Autoinflammation and Immunodeficiency

Biallelic Human Sharpin Loss of Function Induces Autoinflammation and Immunodeficiency Publisher Pubmed

Oda H^{1, 2, 3} ; Manthiram K^{1, 4} ; Chavan PP¹ ; Rieser E^{2, 5} ; Veli O² ; Kaya O² ; Rauch C^{2, 5} ; Nakabo S⁶ ; Kuehn HS⁷ ; Swart M² ; Wang Y² ; Celik NI² ; Molitor A^{8, 9} ; Ziaee V^{10, 11, 12, 13} Show All Authors

Oda H^{1, 2, 3}
Manthiram K^{1, 4}
Chavan PP¹
Rieser E^{2, 5}
Veli O²
Kaya O²
Rauch C^{2, 5}
Nakabo S⁶
Kuehn HS⁷
Swart M²
Wang Y²
Celik NI²
Molitor A^{8, 9}
Ziaee V^{10, 11, 12, 13}
Movahedi N^{11, 12, 14}
Shahrooei M^{15, 16}
Parvaneh N^{11, 17}
Alipourolyei N^{8, 9}
Carapito R^{8, 9, 18}
Xu Q⁴
Preite S⁴
Beck DB^{1, 19, 20}
Chae JJ¹
Nehrebecky M¹
Ombrello AK¹
Hoffmann P¹
Romeo T¹
Deuitch NT¹
Matthiasardottir B¹
Mullikin J¹
Komarow H⁴
Stoddard J⁷
Niemela J⁷
Dobbs K⁴
Sweeney CL⁴
Anderton H^{21, 22}
Lawlor KE^{21, 22, 23, 24}
Yoshitomi H^{25, 26, 27}
Yang D²⁸
Boehm M²⁸
Davis J²⁹
Mudd P³⁰
Randazzo D⁶
Tsai WL⁶
Gadina M⁶
Kaplan MJ⁶
Toguchida J^{25, 26}
Mayer CT²⁹
Rosenzweig SD⁷
Notarangelo LD⁴
Iwai K²⁷
Silke J^{21, 22}
Schwartzberg PL⁴
Boisson B^{31, 32, 33}
Casanova JL^{31, 32, 33, 34, 35}
Bahram S^{8, 9, 18}
Rao AP³⁶
Peltzer N^{2, 37, 38}
Walczak H^{2, 5, 39}
Lalaoui N^{21, 40, 41}
Aksentijevich I¹
Kastner DL¹

Show Affiliations

1. National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States
2. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
3. Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
4. National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States
5. Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany
6. National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, United States
7. Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States
8. Laboratoire dâ€™ImmunoRhumatologie Moleculaire, INSERM UMR_S1109, Plateforme GENOMAX, Faculte de Medecine, Federation Hospitalo-Universitaire OMICARE, Centre de Recherche dâ€™Immunologie et dâ€™Hematologie, CRBS, Federation de Medecine Translationnelle de Strasbourg, Universite de Strasbourg, Strasbourg, France
9. Institut Thematique Interdisciplinaire (ITI) de Medecine de Precision de Strasbourg, Strasbourg, France
10. Division of Rheumatology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
11. Childrenâ€™s Medical Center, Pediatrics Center of Excellence, Tehran, Iran
12. Pediatric Rheumatology Society of Iran, Tehran, Iran
13. Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran, Iran
14. School of Medicine, Golestan University of Medical Sciences, Gorgan, Iran
15. Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium
16. Dr. Shahrooei Lab, 22 Bahman St., Ashrafi Esfahani Blvd, Tehran, Iran
17. Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
18. Laboratoire dâ€™Immunologie, Plateau Technique de Biologie, Pole de Biologie, Nouvel Hopital Civil, Strasbourg, France
19. Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, United States
20. Division of Rheumatology, Department of Medicine, New York University Grossman School of Medicine, New York, NY, United States
21. The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia
22. Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia
23. Centre for Innate Immunity and Infectious Diseases, Hudson Institute of Medical Research, Clayton, VIC, Australia
24. Department of Molecular and Translational Science, Monash University, Clayton, VIC, Australia
25. Institute for Life and Medical Sciences, Kyoto University, Kyoto, Japan
26. Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan
27. Graduate School of Medicine, Kyoto University, Kyoto, Japan
28. National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States
29. National Cancer Institute, National Institutes of Health, Bethesda, MD, United States
30. Division of Pediatric Otolaryngology, Childrenâ€™s National Hospital, Washington, DC, United States
31. St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, United States
32. Laboratory of Human Genetics of Infectious Diseases, INSERM, Necker Hospital for Sick Children, Paris, France
33. Imagine Institute, Paris Cite University, Paris, France
34. Department of Pediatrics, Necker Hospital for Sick Children, Paris, France
35. Howard Hughes Medical Institute, The Rockefeller University, New York, NY, United States
36. Manipal Hospital, Bengaluru, India
37. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany
38. Department of Translational Genomics, University of Cologne, Cologne, Germany
39. Centre for Cell Death, Cancer, and Inflammation, UCL Cancer Institute, University College, London, United Kingdom
40. Peter MacCallum Cancer Centre, Melbourne, VIC, Australia
41. Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, VIC, Australia

Source: Nature Immunology Published:2024

Abstract

The linear ubiquitin assembly complex (LUBAC) consists of HOIP, HOIL-1 and SHARPIN and is essential for proper immune responses. Individuals with HOIP and HOIL-1 deficiencies present with severe immunodeficiency, autoinflammation and glycogen storage disease. In mice, the loss of Sharpin leads to severe dermatitis due to excessive keratinocyte cell death. Here, we report two individuals with SHARPIN deficiency who manifest autoinflammatory symptoms but unexpectedly no dermatological problems. Fibroblasts and B cells from these individuals showed attenuated canonical NF-κB responses and a propensity for cell death mediated by TNF superfamily members. Both SHARPIN-deficient and HOIP-deficient individuals showed a substantial reduction of secondary lymphoid germinal center B cell development. Treatment of one SHARPIN-deficient individual with anti-TNF therapies led to complete clinical and transcriptomic resolution of autoinflammation. These findings underscore the critical function of the LUBAC as a gatekeeper for cell death-mediated immune dysregulation in humans. © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024.

2. Biosensors for the Detection of Protein Kinases: Recent Progress and Challenges, Microchemical Journal (2022)

3. Expression of the Three Components of Linear Ubiquitin Assembly Complex in Breast Cancer, PLoS ONE (2018)

4. Update on Autoinflammatory Diseases, Current Opinion in Rheumatology (2023)

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Style	Citing Format
MLA	Oda H, et al.. "Biallelic Human Sharpin Loss of Function Induces Autoinflammation and Immunodeficiency." Nature Immunology, vol. 25, no. 5, 2024, pp. 764-777.
APA	Oda H, Manthiram K, Chavan PP, Rieser E, Veli O, Kaya O, Rauch C, Nakabo S, Kuehn HS, Swart M, Wang Y, Celik NI, Molitor A, Ziaee V, Movahedi N, Shahrooei M, Parvaneh N, Alipourolyei N, Carapito R, ... Kastner DL (2024). Biallelic Human Sharpin Loss of Function Induces Autoinflammation and Immunodeficiency. Nature Immunology, 25(5), 764-777.
Chicago	Oda H, Manthiram K, Chavan PP, Rieser E, Veli O, Kaya O, Rauch C, et al.. "Biallelic Human Sharpin Loss of Function Induces Autoinflammation and Immunodeficiency." Nature Immunology 25, no. 5 (2024): 764-777.
Harvard	Oda H et al. (2024) 'Biallelic Human Sharpin Loss of Function Induces Autoinflammation and Immunodeficiency', Nature Immunology, 25(5), pp. 764-777.
Vancouver	Oda H, Manthiram K, Chavan PP, Rieser E, Veli O, Kaya O, et al.. Biallelic Human Sharpin Loss of Function Induces Autoinflammation and Immunodeficiency. Nature Immunology. 2024;25(5):764-777.
BibTex	@article{ author = {Oda H and Manthiram K and Chavan PP and Rieser E and Veli O and Kaya O and Rauch C and Nakabo S and Kuehn HS and Swart M and Wang Y and Celik NI and Molitor A and Ziaee V and Movahedi N and Shahrooei M and Parvaneh N and Alipourolyei N and Carapito R and Xu Q and Preite S and Beck DB and Chae JJ and Nehrebecky M and Ombrello AK and Hoffmann P and Romeo T and Deuitch NT and Matthiasardottir B and Mullikin J and Komarow H and Stoddard J and Niemela J and Dobbs K and Sweeney CL and Anderton H and Lawlor KE and Yoshitomi H and Yang D and Boehm M and Davis J and Mudd P and Randazzo D and Tsai WL and Gadina M and Kaplan MJ and Toguchida J and Mayer CT and Rosenzweig SD and Notarangelo LD and Iwai K and Silke J and Schwartzberg PL and Boisson B and Casanova JL and Bahram S and Rao AP and Peltzer N and Walczak H and Lalaoui N and Aksentijevich I and Kastner DL}, title = {Biallelic Human Sharpin Loss of Function Induces Autoinflammation and Immunodeficiency}, journal = {Nature Immunology}, volume = {25}, number = {5}, pages = {764-777}, year = {2024} }
RIS	TY - JOUR AU - Oda H AU - Manthiram K AU - Chavan PP AU - Rieser E AU - Veli O AU - Kaya O AU - Rauch C AU - Nakabo S AU - Kuehn HS AU - Swart M AU - Wang Y AU - Celik NI AU - Molitor A AU - Ziaee V AU - Movahedi N AU - Shahrooei M AU - Parvaneh N AU - Alipourolyei N AU - Carapito R AU - Xu Q AU - Preite S AU - Beck DB AU - Chae JJ AU - Nehrebecky M AU - Ombrello AK AU - Hoffmann P AU - Romeo T AU - Deuitch NT AU - Matthiasardottir B AU - Mullikin J AU - Komarow H AU - Stoddard J AU - Niemela J AU - Dobbs K AU - Sweeney CL AU - Anderton H AU - Lawlor KE AU - Yoshitomi H AU - Yang D AU - Boehm M AU - Davis J AU - Mudd P AU - Randazzo D AU - Tsai WL AU - Gadina M AU - Kaplan MJ AU - Toguchida J AU - Mayer CT AU - Rosenzweig SD AU - Notarangelo LD AU - Iwai K AU - Silke J AU - Schwartzberg PL AU - Boisson B AU - Casanova JL AU - Bahram S AU - Rao AP AU - Peltzer N AU - Walczak H AU - Lalaoui N AU - Aksentijevich I AU - Kastner DL TI - Biallelic Human Sharpin Loss of Function Induces Autoinflammation and Immunodeficiency JO - Nature Immunology VL - 25 IS - 5 SP - 764 EP - 777 PY - 2024 ER -

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