Toll-Like Receptor 3 Deficiency in a Child with Recurrent Infections and Diabetes Mellitus
,
Abstract
There are more than 400 different primary immune deficiencies worldwide. Amongst them, patients with humoral immunodeficiency are more common. Most of the innate immune defects, affect the phagocytic system. There are a few cases of toll-like receptor deficiency with innate immune defects, like TLR3 mutations, which usually present with Herpes simplex encephalitis. Herein, we report a two-year old boy with TLR3 deficiency, who was presented with recurrent infections and type one diabetes mellitus.
1. Adkinson Jr N F, Bochner B S, Burks A W, Busse W W, Holgate S T, Lemanske R F, et al. Middleton’s allergy E-Book: Principles and practice: Elsevier Health Sciences; 2013.
2. Tai N, Wong F S,Wen L. The role of the innate immune system in destruction of pancreatic beta cells in NOD mice and humans with type I diabetes. J Autoimmun. 2016;71:26-34.
3. Sullivan K E,Stiehm E R. Stiehm’s immune deficiencies: Academic Press; 2014.
4. Zhang S Y, Jouanguy E, Ugolini S, Smahi A, Elain G, Romero P, et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science.
2007;317(5844):1522-7.
5. Lim H K, Seppanen M, Hautala T, Ciancanelli M J, Itan Y, Lafaille F G, et al. TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk. Neurology. 2014;83(21):1888-97.
6. Guo Y, Audry M, Ciancanelli M, Alsina L, Azevedo J, Herman M, et al. Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunityComplete human TLR3 deficiency and
HSE. J EXP Med. 2011;208(10):2083-98.
7. Assmann T S, Brondani Lde A, Bauer A C, Canani L H,Crispim D. Polymorphisms in the TLR3 gene are associated with risk for type 1 diabetes mellitus. Eur J Endocrinol. 2014;170(4):519-27.
8. Moazzen.N, Ahanchian.H, Sarabi.M, Malek.A, Abbasi.ShayeZ. Bone and joint manifestations of primary immunodeficiency patients. Tehran Univ Med J. 2021;79(2):78-84.
9. Ahanchian H, Moazzen N, Faroughi M S D, Khalighi N, Khoshkhui M, Aelami M H, et al. COVID-19 in a child with primary specific antibody deficiency. Clin Case Rep. 2021;9:755–58.
10. Svensson A, Tunback P, Nordstrom I, Padyukov L,Eriksson K. Polymorphisms in Toll-like receptor 3 confer natural resistance to human herpes simplex virus type 2 infection. J Gen Virol. 2012;93(Pt 8):1717-24.
11. Sironi M, Peri A M, Cagliani R, Forni D, Riva S, Biasin M, et al. TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis. J Infect Dis. 2017;215(9):1430-34.
12. Ogle G, Middlehurst A, Silink M,Hanas R. Pocketbook for management of diabetes in childhood and adolescence in under-resourced countries. IDF. 2017.
13. Zipris D. Epidemiology of type 1 diabetes and what animal models teach us about the role of viruses in disease mechanisms. Clin Immunol.
2009;131(1):11-23.
14. McCall K D, Thuma J R, Courreges M C, Benencia F, James C B, Malgor R, et al. Toll-like receptor 3 is critical for coxsackievirus B4-induced type 1 diabetes in female NOD mice. Endocrinology. 2015;156(2):453-61.
2. Tai N, Wong F S,Wen L. The role of the innate immune system in destruction of pancreatic beta cells in NOD mice and humans with type I diabetes. J Autoimmun. 2016;71:26-34.
3. Sullivan K E,Stiehm E R. Stiehm’s immune deficiencies: Academic Press; 2014.
4. Zhang S Y, Jouanguy E, Ugolini S, Smahi A, Elain G, Romero P, et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science.
2007;317(5844):1522-7.
5. Lim H K, Seppanen M, Hautala T, Ciancanelli M J, Itan Y, Lafaille F G, et al. TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk. Neurology. 2014;83(21):1888-97.
6. Guo Y, Audry M, Ciancanelli M, Alsina L, Azevedo J, Herman M, et al. Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunityComplete human TLR3 deficiency and
HSE. J EXP Med. 2011;208(10):2083-98.
7. Assmann T S, Brondani Lde A, Bauer A C, Canani L H,Crispim D. Polymorphisms in the TLR3 gene are associated with risk for type 1 diabetes mellitus. Eur J Endocrinol. 2014;170(4):519-27.
8. Moazzen.N, Ahanchian.H, Sarabi.M, Malek.A, Abbasi.ShayeZ. Bone and joint manifestations of primary immunodeficiency patients. Tehran Univ Med J. 2021;79(2):78-84.
9. Ahanchian H, Moazzen N, Faroughi M S D, Khalighi N, Khoshkhui M, Aelami M H, et al. COVID-19 in a child with primary specific antibody deficiency. Clin Case Rep. 2021;9:755–58.
10. Svensson A, Tunback P, Nordstrom I, Padyukov L,Eriksson K. Polymorphisms in Toll-like receptor 3 confer natural resistance to human herpes simplex virus type 2 infection. J Gen Virol. 2012;93(Pt 8):1717-24.
11. Sironi M, Peri A M, Cagliani R, Forni D, Riva S, Biasin M, et al. TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis. J Infect Dis. 2017;215(9):1430-34.
12. Ogle G, Middlehurst A, Silink M,Hanas R. Pocketbook for management of diabetes in childhood and adolescence in under-resourced countries. IDF. 2017.
13. Zipris D. Epidemiology of type 1 diabetes and what animal models teach us about the role of viruses in disease mechanisms. Clin Immunol.
2009;131(1):11-23.
14. McCall K D, Thuma J R, Courreges M C, Benencia F, James C B, Malgor R, et al. Toll-like receptor 3 is critical for coxsackievirus B4-induced type 1 diabetes in female NOD mice. Endocrinology. 2015;156(2):453-61.
| Files | ||
| Issue | Vol 3, No 4 (2020) | |
| Section | Case Report | |
| DOI | https://doi.org/10.18502/igj.v3i4.7467 | |
| Keywords | ||
| Toll-Like Receptor 3 Deficiency Diabetes Mellitus Recurrent Infections Skin Lesions | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Moazzen N, Ahanchian H, Norooziasl S, Kianifar HR. Toll-Like Receptor 3 Deficiency in a Child with Recurrent Infections and Diabetes Mellitus. Immunol Genet J. 2020;3(4):236-240.
