X-Linked Tlr7 Deficiency Underlies Critical Covid-19 Pneumonia in a Male Patient With Ataxia-Telangiectasia

X-Linked Tlr7 Deficiency Underlies Critical Covid-19 Pneumonia in a Male Patient With Ataxia-Telangiectasia Publisher Pubmed

Abolhassani H^{1, 2} ; Vosughimotlagh A³ ; Asano T⁴ ; Landegren N^{5, 6} ; Boisson B^{4, 7, 8} ; Delavari S² ; Bastard P^{7, 8} ; Arandaguillen M⁶ ; Wang Y¹ ; Zuo F¹ ; Sardh F^{5, 6} ; Marcotte H⁹ ; Du L¹ ; Zhang SY⁴ Show All Authors

Abolhassani H^{1, 2}
Vosughimotlagh A³
Asano T⁴
Landegren N^{5, 6}
Boisson B^{4, 7, 8}
Delavari S²
Bastard P^{7, 8}
Arandaguillen M⁶
Wang Y¹
Zuo F¹
Sardh F^{5, 6}
Marcotte H⁹
Du L¹
Zhang SY⁴
Zhang Q⁴
Rezaei N²
Kampe O^{6, 10}
Casanova JL^{4, 7, 8, 11}
Hammarstrom L¹
Panhammarstrom Q¹

Show Affiliations

1. Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, 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 Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran
4. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States
5. Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden
6. Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden
7. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France
8. University of Paris, Imagine Institute, Paris, France
9. Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden
10. Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
11. Howard Hughes Medical Institute, New York, NY, United States

Source: Journal of Clinical Immunology Published:2022

Abstract

Background: Coronavirus disease 2019 (COVID-19) exhibits a wide spectrum of clinical manifestations, ranging from asymptomatic to critical conditions. Understanding the mechanism underlying life-threatening COVID-19 is instrumental for disease prevention and treatment in individuals with a high risk. Objectives: We aimed to identify the genetic cause for critical COVID-19 pneumonia in a patient with a preexisting inborn error of immunity (IEI). Methods: Serum levels of specific antibodies against the virus and autoantibodies against type I interferons (IFNs) were measured. Whole exome sequencing was performed, and the impacts of candidate gene variants were investigated. We also evaluated 247 ataxia-telangiectasia (A-T) patients in the Iranian IEI registry. Results: We report a 7-year-old Iranian boy with a preexisting hyper IgM syndrome who developed critical COVID-19 pneumonia. IgM only specific COVID-19 immune response was detected but no autoantibodies against type I IFN were observed. A homozygous deleterious mutation in the ATM gene was identified, which together with his antibody deficiency, radiosensitivity, and neurological signs, established a diagnosis of A-T. Among the 247 A-T patients evaluated, 36 had SARS-CoV-2 infection, but all had mild symptoms or were asymptomatic except the index patient. A hemizygous deleterious mutation in the TLR7 gene was subsequently identified in the patient. Conclusions: We report a unique IEI patient with combined ATM and TLR7 deficiencies. The two genetic defects underlie A-T and critical COVID-19 in this patient, respectively. © 2021, The Author(s).

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Style	Citing Format
MLA	Abolhassani H, et al.. "X-Linked Tlr7 Deficiency Underlies Critical Covid-19 Pneumonia in a Male Patient With Ataxia-Telangiectasia." Journal of Clinical Immunology, vol. 42, no. 1, 2022, pp. -.
APA	Abolhassani H, Vosughimotlagh A, Asano T, Landegren N, Boisson B, Delavari S, Bastard P, Arandaguillen M, Wang Y, Zuo F, Sardh F, Marcotte H, Du L, Zhang SY, Zhang Q, Rezaei N, Kampe O, Casanova JL, Hammarstrom L, Panhammarstrom Q (2022). X-Linked Tlr7 Deficiency Underlies Critical Covid-19 Pneumonia in a Male Patient With Ataxia-Telangiectasia. Journal of Clinical Immunology, 42(1), -.
Chicago	Abolhassani H, Vosughimotlagh A, Asano T, Landegren N, Boisson B, Delavari S, Bastard P, et al.. "X-Linked Tlr7 Deficiency Underlies Critical Covid-19 Pneumonia in a Male Patient With Ataxia-Telangiectasia." Journal of Clinical Immunology 42, no. 1 (2022): -.
Harvard	Abolhassani H et al. (2022) 'X-Linked Tlr7 Deficiency Underlies Critical Covid-19 Pneumonia in a Male Patient With Ataxia-Telangiectasia', Journal of Clinical Immunology, 42(1), pp. -.
Vancouver	Abolhassani H, Vosughimotlagh A, Asano T, Landegren N, Boisson B, Delavari S, et al.. X-Linked Tlr7 Deficiency Underlies Critical Covid-19 Pneumonia in a Male Patient With Ataxia-Telangiectasia. Journal of Clinical Immunology. 2022;42(1):-.
BibTex	@article{ author = {Abolhassani H and Vosughimotlagh A and Asano T and Landegren N and Boisson B and Delavari S and Bastard P and Arandaguillen M and Wang Y and Zuo F and Sardh F and Marcotte H and Du L and Zhang SY and Zhang Q and Rezaei N and Kampe O and Casanova JL and Hammarstrom L and Panhammarstrom Q}, title = {X-Linked Tlr7 Deficiency Underlies Critical Covid-19 Pneumonia in a Male Patient With Ataxia-Telangiectasia}, journal = {Journal of Clinical Immunology}, volume = {42}, number = {1}, pages = {-}, year = {2022} }
RIS	TY - JOUR AU - Abolhassani H AU - Vosughimotlagh A AU - Asano T AU - Landegren N AU - Boisson B AU - Delavari S AU - Bastard P AU - Arandaguillen M AU - Wang Y AU - Zuo F AU - Sardh F AU - Marcotte H AU - Du L AU - Zhang SY AU - Zhang Q AU - Rezaei N AU - Kampe O AU - Casanova JL AU - Hammarstrom L AU - Panhammarstrom Q TI - X-Linked Tlr7 Deficiency Underlies Critical Covid-19 Pneumonia in a Male Patient With Ataxia-Telangiectasia JO - Journal of Clinical Immunology VL - 42 IS - 1 SP - EP - PY - 2022 ER -

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