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

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.

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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 -

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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