A New Patient with Inherited TYK2 Deficiency

doi:10.1007/s10875-019-00713-5

Case Reports

. 2020 Jan;40(1):232-235.

doi: 10.1007/s10875-019-00713-5. Epub 2019 Nov 11.

A New Patient with Inherited TYK2 Deficiency

Shokouh Azam Sarrafzadeh¹, Maryam Mahloojirad¹, Jean-Laurent Casanova^{2

3

4

5

6}, Mohsen Badalzadeh¹, Jacinta Bustamante^{2

3

6

7}, Stephanie Boisson-Dupuis^{2

3

6}, Zahra Pourpak¹, Maryam Nourizadeh⁸, Mostafa Moin¹

Affiliations

¹ Immunology, Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, 4th Floor, Building No.3, Children's Medical Center, Gharib St, Keshavarz Blvd, Tehran, 1419733154, Iran.
² Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM-U1163, Paris, France.
³ Imagine Institute, Paris University, Paris, France.
⁴ Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
⁵ Howard Hughes Medical Institute, New York, NY, USA.
⁶ St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller branch, The Rockefeller University, New York, NY, USA.
⁷ Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris, France.
⁸ Immunology, Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, 4th Floor, Building No.3, Children's Medical Center, Gharib St, Keshavarz Blvd, Tehran, 1419733154, Iran. mnourizadeh80@gmail.com.

PMID: 31713088
PMCID: PMC7218688
DOI: 10.1007/s10875-019-00713-5

Case Reports

A New Patient with Inherited TYK2 Deficiency

Shokouh Azam Sarrafzadeh et al. J Clin Immunol. 2020 Jan.

. 2020 Jan;40(1):232-235.

doi: 10.1007/s10875-019-00713-5. Epub 2019 Nov 11.

Authors

Affiliations

¹ Immunology, Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, 4th Floor, Building No.3, Children's Medical Center, Gharib St, Keshavarz Blvd, Tehran, 1419733154, Iran.
² Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM-U1163, Paris, France.
³ Imagine Institute, Paris University, Paris, France.
⁴ Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
⁵ Howard Hughes Medical Institute, New York, NY, USA.
⁶ St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller branch, The Rockefeller University, New York, NY, USA.
⁷ Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris, France.
⁸ Immunology, Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, 4th Floor, Building No.3, Children's Medical Center, Gharib St, Keshavarz Blvd, Tehran, 1419733154, Iran. mnourizadeh80@gmail.com.

PMID: 31713088
PMCID: PMC7218688
DOI: 10.1007/s10875-019-00713-5

No abstract available

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Conflict of interest statement

Conflict of interest:

Authors declare no conflict of interest.

Figures

**Figure 1-. identification of *TYK2* homozygous mutation**
(a) Pedigree of a family in which a homozygous mutation in *TYK2* was identified in the index case. Squares and circles denote male (father) and female (mother), respectively. Half-filled square and circle symbolize heterozygous carriers of c.647delC mutation. Living affected and unaffected males show in black and clear squares, respectively. (b) Validation by Sanger sequencing of the *TYK2* mutation in the patient, brother and their parents. PCR followed by Sanger sequencing confirmed the deletion of a C in exon 7 (c.647delC) leading to a frameshift and the substitution at position 216 causing proline to be converted to arginine followed by a stop codon 13 amino acids after (p.P216Rfs*14). (c) Schematic representation of the TYK2 protein with the position of mutation reported here.

See this image and copyright information in PMC

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References

1. Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006;25(5):745–55. - PubMed
1. Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramirez-Alejo N, Kilic SS, et al. Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. The Journal of experimental medicine. 2015;212(10):1641–62. - PMC - PubMed
1. Fuchs S, Kaiser-Labusch P, Bank J, Ammann S, Kolb-Kokocinski A, Edelbusch C, et al. Tyrosine kinase 2 is not limiting human antiviral type III interferon responses. European journal of immunology. 2016;46(11):2639–49. - PubMed
1. Watford WT, O'Shea JJ. Human tyk2 kinase deficiency: another primary immunodeficiency syndrome. Immunity. 2006;25(5):695–7. - PubMed
1. Martinez-Barricarte R, Markle JG. Human IFN-gamma immunity to mycobacteria is governed by both IL-12 and IL-23. 2018;3(30). - PMC - PubMed

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[1] Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006;25(5):745–55. - PubMed

[2] Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006;25(5):745–55. - PubMed

[3] Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramirez-Alejo N, Kilic SS, et al. Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. The Journal of experimental medicine. 2015;212(10):1641–62. - PMC - PubMed

[4] Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramirez-Alejo N, Kilic SS, et al. Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. The Journal of experimental medicine. 2015;212(10):1641–62. - PMC - PubMed

[5] Fuchs S, Kaiser-Labusch P, Bank J, Ammann S, Kolb-Kokocinski A, Edelbusch C, et al. Tyrosine kinase 2 is not limiting human antiviral type III interferon responses. European journal of immunology. 2016;46(11):2639–49. - PubMed

[6] Fuchs S, Kaiser-Labusch P, Bank J, Ammann S, Kolb-Kokocinski A, Edelbusch C, et al. Tyrosine kinase 2 is not limiting human antiviral type III interferon responses. European journal of immunology. 2016;46(11):2639–49. - PubMed

[7] Watford WT, O'Shea JJ. Human tyk2 kinase deficiency: another primary immunodeficiency syndrome. Immunity. 2006;25(5):695–7. - PubMed

[8] Watford WT, O'Shea JJ. Human tyk2 kinase deficiency: another primary immunodeficiency syndrome. Immunity. 2006;25(5):695–7. - PubMed

[9] Martinez-Barricarte R, Markle JG. Human IFN-gamma immunity to mycobacteria is governed by both IL-12 and IL-23. 2018;3(30). - PMC - PubMed

[10] Martinez-Barricarte R, Markle JG. Human IFN-gamma immunity to mycobacteria is governed by both IL-12 and IL-23. 2018;3(30). - PMC - PubMed

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A New Patient with Inherited TYK2 Deficiency

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A New Patient with Inherited TYK2 Deficiency

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Conflict of interest statement

Figures

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