Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome

Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome Publisher Pubmed

Abolhassani H^{1, 2} ; Landegren N^{3, 4} ; Bastard P^{5, 6, 7} ; Materna M^{6, 7} ; Modaresi M⁸ ; Du L¹ ; Arandaguillen M³ ; Sardh F^{3, 4} ; Zuo F¹ ; Zhang P⁵ ; Marcotte H⁹ ; Marr N^{10, 11} ; Khan T¹⁰ ; Ata M¹⁰ Show All Authors

Abolhassani H^{1, 2}
Landegren N^{3, 4}
Bastard P^{5, 6, 7}
Materna M^{6, 7}
Modaresi M⁸
Du L¹
Arandaguillen M³
Sardh F^{3, 4}
Zuo F¹
Zhang P⁵
Marcotte H⁹
Marr N^{10, 11}
Khan T¹⁰
Ata M¹⁰
Alali F¹⁰
Pescarmona R^{12, 13}
Belot A^{12, 14, 15}
Beziat V^{6, 7}
Zhang Q^{5, 6}
Casanova JL^{5, 6, 7, 16}
Kampe O^{4, 17}
Zhang SY^{5, 6, 7}
Hammarstrom L¹
Panhammarstrom Q¹

Source: Journal of Clinical Immunology Published:2022

Abstract

Background: Inborn errors of immunity (IEI) and autoantibodies to type I interferons (IFNs) underlie critical COVID-19 pneumonia in at least 15% of the patients, while the causes of multisystem inflammatory syndrome in children (MIS-C) remain elusive. Objectives: To detect causal genetic variants in very rare cases with concomitant critical COVID-19 pneumonia and MIS-C. Methods: Whole exome sequencing was performed, and the impact of candidate gene variants was investigated. Plasma levels of cytokines, specific antibodies against the virus, and autoantibodies against type I IFNs were also measured. Results: We report a 3-year-old child who died on day 56 of SARS-CoV-2 infection with an unusual clinical presentation, combining both critical COVID-19 pneumonia and MIS-C. We identified a large, homozygous loss-of-function deletion in IFNAR1, underlying autosomal recessive IFNAR1 deficiency. Conclusions: Our findings confirm that impaired type I IFN immunity can underlie critical COVID-19 pneumonia, while suggesting that it can also unexpectedly underlie concomitant MIS-C. Our report further raises the possibility that inherited or acquired dysregulation of type I IFN immunity might contribute to MIS-C in other patients. © 2022, The Author(s).

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Style	Citing Format
MLA	Abolhassani H, et al.. "Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome." Journal of Clinical Immunology, vol. 42, no. 3, 2022, pp. 471-483.
APA	Abolhassani H, Landegren N, Bastard P, Materna M, Modaresi M, Du L, Arandaguillen M, Sardh F, Zuo F, Zhang P, Marcotte H, Marr N, Khan T, Ata M, Alali F, Pescarmona R, Belot A, Beziat V, Zhang Q, ... Panhammarstrom Q (2022). Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome. Journal of Clinical Immunology, 42(3), 471-483.
Chicago	Abolhassani H, Landegren N, Bastard P, Materna M, Modaresi M, Du L, Arandaguillen M, et al.. "Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome." Journal of Clinical Immunology 42, no. 3 (2022): 471-483.
Harvard	Abolhassani H et al. (2022) 'Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome', Journal of Clinical Immunology, 42(3), pp. 471-483.
Vancouver	Abolhassani H, Landegren N, Bastard P, Materna M, Modaresi M, Du L, et al.. Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome. Journal of Clinical Immunology. 2022;42(3):471-483.
BibTex	@article{ author = {Abolhassani H and Landegren N and Bastard P and Materna M and Modaresi M and Du L and Arandaguillen M and Sardh F and Zuo F and Zhang P and Marcotte H and Marr N and Khan T and Ata M and Alali F and Pescarmona R and Belot A and Beziat V and Zhang Q and Casanova JL and Kampe O and Zhang SY and Hammarstrom L and Panhammarstrom Q}, title = {Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome}, journal = {Journal of Clinical Immunology}, volume = {42}, number = {3}, pages = {471-483}, year = {2022} }
RIS	TY - JOUR AU - Abolhassani H AU - Landegren N AU - Bastard P AU - Materna M AU - Modaresi M AU - Du L AU - Arandaguillen M AU - Sardh F AU - Zuo F AU - Zhang P AU - Marcotte H AU - Marr N AU - Khan T AU - Ata M AU - Alali F AU - Pescarmona R AU - Belot A AU - Beziat V AU - Zhang Q AU - Casanova JL AU - Kampe O AU - Zhang SY AU - Hammarstrom L AU - Panhammarstrom Q TI - Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome JO - Journal of Clinical Immunology VL - 42 IS - 3 SP - 471 EP - 483 PY - 2022 ER -

Style

Citing Format

MLA

Abolhassani H, et al.. "Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome." Journal of Clinical Immunology, vol. 42, no. 3, 2022, pp. 471-483.

APA

Abolhassani H, Landegren N, Bastard P, Materna M, Modaresi M, Du L, Arandaguillen M, Sardh F, Zuo F, Zhang P, Marcotte H, Marr N, Khan T, Ata M, Alali F, Pescarmona R, Belot A, Beziat V, Zhang Q, ... Panhammarstrom Q (2022). Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome. Journal of Clinical Immunology, 42(3), 471-483.

Chicago

Abolhassani H, Landegren N, Bastard P, Materna M, Modaresi M, Du L, Arandaguillen M, et al.. "Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome." Journal of Clinical Immunology 42, no. 3 (2022): 471-483.

Harvard

Abolhassani H et al. (2022) 'Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome', Journal of Clinical Immunology, 42(3), pp. 471-483.

Vancouver

Abolhassani H, Landegren N, Bastard P, Materna M, Modaresi M, Du L, et al.. Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome. Journal of Clinical Immunology. 2022;42(3):471-483.

BibTex

@article{ author = {Abolhassani H and Landegren N and Bastard P and Materna M and Modaresi M and Du L and Arandaguillen M and Sardh F and Zuo F and Zhang P and Marcotte H and Marr N and Khan T and Ata M and Alali F and Pescarmona R and Belot A and Beziat V and Zhang Q and Casanova JL and Kampe O and Zhang SY and Hammarstrom L and Panhammarstrom Q}, title = {Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome}, journal = {Journal of Clinical Immunology}, volume = {42}, number = {3}, pages = {471-483}, year = {2022} }

RIS

TY - JOUR
AU - Abolhassani H
AU - Landegren N
AU - Bastard P
AU - Materna M
AU - Modaresi M
AU - Du L
AU - Arandaguillen M
AU - Sardh F
AU - Zuo F
AU - Zhang P
AU - Marcotte H
AU - Marr N
AU - Khan T
AU - Ata M
AU - Alali F
AU - Pescarmona R
AU - Belot A
AU - Beziat V
AU - Zhang Q
AU - Casanova JL
AU - Kampe O
AU - Zhang SY
AU - Hammarstrom L
AU - Panhammarstrom Q
TI - Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome
JO - Journal of Clinical Immunology
VL - 42
IS - 3
SP - 471
EP - 483
PY - 2022
ER -

Science Communicator Platform

Authors

Abstract