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

Show Affiliations

1. Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge Stockholm, 14183, Sweden
2. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Childrenâ€™s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
3. Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden
4. Centre for Molecular Medicine, Department of Medicine, Karolinska Institutet, Stockholm, Sweden
5. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States
6. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale U1163, Necker Hospital for Sick Children, Paris, France
7. University of Paris, Imagine Institute, Paris, France
8. Division of Pediatrics Pulmonary Disease, Childrenâ€™s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
9. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden
10. Department of Human Immunology, Sidra Medicine, Doha, Qatar
11. College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar
12. Centre International de Recherche en Infectiologie, Univ Lyon, Inserm, U1111, Universite Claude Bernard, Lyon 1, Centre National de La Recherche Scientifique, UMR5308, ENS de Lyon, Lyon, France
13. Laboratoire dâ€™immunologie, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Pierre-Benite, France
14. Paediatric Nephrology, Rheumatology, Dermatology, Hopital Femme, Mere Enfant, Hospices Civils de Lyon, Bron, France
15. National Reference Centre for Rheumatic and Autoimmune and Systemic Diseases in Children (RAISE), Lyon, France
16. Howard Hughes Medical Institute, New York, NY, United States
17. Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden

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).

Related Docs

View other Related Docs

1. Genetic and Immunologic Evaluation of Children With Inborn Errors of Immunity and Severe or Critical Covid-19, Journal of Allergy and Clinical Immunology (2022)

2. Recessive Inborn Errors of Type I Ifn Immunity in Children With Covid-19 Pneumonia, Journal of Experimental Medicine (2022)

3. X-Linked Tlr7 Deficiency Underlies Critical Covid-19 Pneumonia in a Male Patient With Ataxia-Telangiectasia, Journal of Clinical Immunology (2022)

4. Human Genetic and Immunological Determinants of Critical Covid-19 Pneumonia, Nature (2022)

5. A Common Form of Dominant Human Ifnar1 Deficiency Impairs Ifn-Α and -Ω But Not Ifn-Β-Dependent Immunity, Journal of Experimental Medicine (2025)

6. Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients, Journal of Clinical Immunology (2022)

7. Impact of Sars-Cov-2 Pandemic on Patients With Primary Immunodeficiency, Journal of Clinical Immunology (2021)

8. Sars-Cov-2-Related Mis-C: A Key to the Viral and Genetic Causes of Kawasaki Disease?, Journal of Experimental Medicine (2021)

Experts (# of related papers)

View all Related Experts

Nima Rezaei (42)

Nima Parvaneh (16)

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

Authors Affiliations

Abstract