Yıl: 2023 Cilt: 65 Sayı: 3 Sayfa Aralığı: 536 - 541 Metin Dili: İngilizce DOI: 10.24953/turkjped.2020.1934 İndeks Tarihi: 12-07-2023

DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection

Öz:
Background. Hyperimmunoglobulin E syndrome (HIES) due to dedicator of cytokinesis8 (DOCK8) deficiency may present in infancy and childhood with different clinical features involving recurrent infections, allergic dysregulation, and autoimmunity. Case. In this report, we describe a patient who first presented with severe hypereosinophilia and went on to develop the syndrome of inappropriate antidiuretic hormone secretion (SIADH) in the context of a severe herpes infection. Investigation revealed the presence of underlying DOCK8 deficiency presenting with atypical clinical features. Conclusions. Distinct inflammatory features associated with infections may be seen in the course of primary immunodeficiency diseases, and early functional and molecular genetic tests will aid the proper management.
Anahtar Kelime: dedicator of cytokinesis (DOCK8) deficiency syndrome of inappropriate antidiuretic hormone secretion (SIADH) interferon response

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
  • 1. Freeman AF, Holland SM. The hyper-IgE syndromes. Immunol Allergy Clin North Am 2008; 28: 277-291. https://doi.org/10.1016/j.iac.2008.01.005
  • 2. Freeman AF, Collura-Burke CJ, Patronas NJ, et al. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics 2007; 119: e1121-e1125. https://doi.org/10.1542/peds.2006- 2649
  • 3. Ling JC, Freeman AF, Gharib AM, et al. Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome. Clin Immunol 2007; 122: 255- 258. https://doi.org/10.1016/j.clim.2006.10.005
  • 4. Zhang Q, Davis JC, Lamborn IT, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 2009; 361: 2046-2055. https://doi.org/10.1056/NEJMoa0905506
  • 5. Engelhardt KR, McGhee S, Winkler S, et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol 2009; 124: 1289-1302. https://doi.org/10.1016/j.jaci.2009.10.038
  • 6. Cavkaytar O, Cagdas Ayvaz D, Keskin O, et al. A case of DOCK8 deficient hyper-IgE syndrome presenting primarily with eczema, food allergy, and asthma. Pediatr Allergy Immunol Pulmonol 2013; 26: 48-51. https://doi.org/10.1089/ped.2012.0179
  • 7. Shahin T, Aschenbrenner D, Cagdas D, et al. Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function. Haematologica 2019; 104: 609-621. https://doi.org/10.3324/ haematol.2018.194233
  • 8. Aydin SE, Kilic SS, Aytekin C, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol 2015; 35: 189-198. https://doi. org/10.1007/s10875-014-0126-0
  • 9. Al-Zahrani D, Raddadi A, Massaad M, et al. Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency. Clin Immunol 2014; 153: 104-108. https://doi.org/10.1016/j.clim.2014.04.005
  • 10. Engelhardt KR, Gertz ME, Keles S, et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 2015; 136: 402-412. https://doi. org/10.1016/j.jaci.2014.12.1945
  • 11. Cousland Z, Payne C, El-Mahmoudi B. Hyponatraemia and SIADH as a presenting feature of acquired immunodeficiency syndrome. In: Society for Endocrinology BES 2011. Birmingham, UK: BioScientifica, 2011.
  • 12. Wang CC, Shiang JC, Chen JT, Lin SH. Syndrome of inappropriate secretion of antidiuretic hormone associated with localized herpes zoster ophthalmicus. J Gen Intern Med 2011; 26: 216-220. https://doi.org/10.1007/s11606-010-1517-4
  • 13. Kuriki A, Ishihara K, Satoh H, Sugie M, Kato H, Kawamura M. Syndrome of inappropriate secretion of anti-diuretic hormone associated with limbic encephalitis due to herpes simplex virus infection- -a case report. Rinsho Shinkeigaku 2008; 48: 184-190. https://doi.org/10.5692/clinicalneurol.48.184
  • 14. Aryan Z, Nabavi M, Shabani M, et al. Hypomorphic DOCK8 deletion causes hypereosinophilic syndrome. Pediatr Blood Cancer 2020; 67: e28084. https://doi.org/10.1002/pbc.28084
APA Mete Yesil A, Kayaoğlu B, Gül E, Gonc E, Özön Z, Tezcan İ, Gursel M, Çağdaş D (2023). DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection. , 536 - 541. 10.24953/turkjped.2020.1934
Chicago Mete Yesil Ayse,Kayaoğlu Başak,Gül Ersin,Gonc E. Nazli,Özön Z. Alev,Tezcan İlhan,Gursel Mayda,Çağdaş Deniz DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection. (2023): 536 - 541. 10.24953/turkjped.2020.1934
MLA Mete Yesil Ayse,Kayaoğlu Başak,Gül Ersin,Gonc E. Nazli,Özön Z. Alev,Tezcan İlhan,Gursel Mayda,Çağdaş Deniz DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection. , 2023, ss.536 - 541. 10.24953/turkjped.2020.1934
AMA Mete Yesil A,Kayaoğlu B,Gül E,Gonc E,Özön Z,Tezcan İ,Gursel M,Çağdaş D DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection. . 2023; 536 - 541. 10.24953/turkjped.2020.1934
Vancouver Mete Yesil A,Kayaoğlu B,Gül E,Gonc E,Özön Z,Tezcan İ,Gursel M,Çağdaş D DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection. . 2023; 536 - 541. 10.24953/turkjped.2020.1934
IEEE Mete Yesil A,Kayaoğlu B,Gül E,Gonc E,Özön Z,Tezcan İ,Gursel M,Çağdaş D "DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection." , ss.536 - 541, 2023. 10.24953/turkjped.2020.1934
ISNAD Mete Yesil, Ayse vd. "DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection". (2023), 536-541. https://doi.org/10.24953/turkjped.2020.1934
APA Mete Yesil A, Kayaoğlu B, Gül E, Gonc E, Özön Z, Tezcan İ, Gursel M, Çağdaş D (2023). DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection. Turkish Journal of Pediatrics, 65(3), 536 - 541. 10.24953/turkjped.2020.1934
Chicago Mete Yesil Ayse,Kayaoğlu Başak,Gül Ersin,Gonc E. Nazli,Özön Z. Alev,Tezcan İlhan,Gursel Mayda,Çağdaş Deniz DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection. Turkish Journal of Pediatrics 65, no.3 (2023): 536 - 541. 10.24953/turkjped.2020.1934
MLA Mete Yesil Ayse,Kayaoğlu Başak,Gül Ersin,Gonc E. Nazli,Özön Z. Alev,Tezcan İlhan,Gursel Mayda,Çağdaş Deniz DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection. Turkish Journal of Pediatrics, vol.65, no.3, 2023, ss.536 - 541. 10.24953/turkjped.2020.1934
AMA Mete Yesil A,Kayaoğlu B,Gül E,Gonc E,Özön Z,Tezcan İ,Gursel M,Çağdaş D DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection. Turkish Journal of Pediatrics. 2023; 65(3): 536 - 541. 10.24953/turkjped.2020.1934
Vancouver Mete Yesil A,Kayaoğlu B,Gül E,Gonc E,Özön Z,Tezcan İ,Gursel M,Çağdaş D DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection. Turkish Journal of Pediatrics. 2023; 65(3): 536 - 541. 10.24953/turkjped.2020.1934
IEEE Mete Yesil A,Kayaoğlu B,Gül E,Gonc E,Özön Z,Tezcan İ,Gursel M,Çağdaş D "DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection." Turkish Journal of Pediatrics, 65, ss.536 - 541, 2023. 10.24953/turkjped.2020.1934
ISNAD Mete Yesil, Ayse vd. "DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection". Turkish Journal of Pediatrics 65/3 (2023), 536-541. https://doi.org/10.24953/turkjped.2020.1934