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Yıl 2023, Cilt: 40 Sayı: 2, 417 - 420, 19.07.2023

Deshinta Putri Mulya Benedreky Leo , Doni Priambodo Wijisaksono Neneng Ratnasari Mohammad Juffrie

Öz

Kaynakça

  • Rael EL, Marshall RT, McClain JJ. The Hyper-IgE Syndromes: Lessons in Nature, From Bench to Bedside. World Allergy Organ J. 2012;5(7):79-87.
  • Chu EY, Freeman AF, Jing H, Cowen EW, Davis J, Su HC, et al. Cutaneous manifestations of DOCK8 deficiency syndrome. Arch Dermatol. 2012;148(1):79-84.
  • Wang Z, Zhang Y, Li G, Huang L, Chen J. Dedicator of cytokinesis 8 deficiency and hyperimmunoglobulin E syndrome: A case report. Medicine (Baltimore). 2022;101(5):e28807.
  • Jin JM, Sun YC, Liu Y, Liu XF, Liu GJ, Han JY, et al. [Hyper-IgE syndrome in adulthood: a case report and literature review]. Zhonghua Jie He He Hu Xi Za Zhi. 2017;40(1):52-7.
  • Shrestha P, Sabharwal G, Ghaffari G. A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa. Case Reports Immunol. 2018;2018:4860902.
  • Chaimowitz NS, Branch J, Reyes A, Vargas-Hernandez A, Orange JS, Forbes LR, et al. A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome. Front Pediatr. 2019;7:130.
  • Engelhardt KR, Gertz ME, Keles S, Schaffer AA, Sigmund EC, Glocker C, et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015;136(2):402-12.
  • Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, et al. Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med. 1999;340(9):692-702.
  • Navabi B, Upton JE. Primary immunodeficiencies associated with eosinophilia. Allergy Asthma Clin Immunol. 2016;12:27.
  • Mogensen TH. Primary Immunodeficiencies with Elevated IgE. Int Rev Immunol. 2016;35(1):39-56.
  • Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr. 2004;144(1):93-9.
  • Freeman AF, Holland SM. Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes. Pediatr Res. 2009;65(5 Pt 2):32R-7R.
  • Liza M, Gaurav D, Prasenjeet M, Swapna J, Binodini B. Autosomal-Recessive Hyper-IgE Syndrome. Indian J Dermatol. 2018;63(1):79-81.
  • Biggs CM, Keles S, Chatila TA. DOCK8 deficiency: Insights into pathophysiology, clinical features and management. Clin Immunol. 2017;181:75-82.
  • Dinwiddie DL, Kingsmore SF, Caracciolo S, Rossi G, Moratto D, Mazza C, et al. Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections. J Allergy Clin Immunol. 2013;131(2):594-7 e1-3.
  • Singh AK, Eken A, Fry M, Bettelli E, Oukka M. DOCK8 regulates protective immunity by controlling the function and survival of RORgammat+ ILCs. Nat Commun. 2014;5:4603.
  • Aydin SE, Freeman AF, Al-Herz W, Al-Mousa HA, Arnaout RK, Aydin RC, et al. Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency. J Allergy Clin Immunol Pract. 2019;7(3):848-55.
  • Gatz SA, Benninghoff U, Schutz C, Schulz A, Honig M, Pannicke U, et al. Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. Bone Marrow Transplant. 2011;46(4):552-6.
  • Hashemi H, Mohebbi M, Mehravaran S, Mazloumi M, Jahanbani-Ardakani H, Abtahi SH. Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities. J Res Med Sci. 2017;22:53.

Diagnosing Hyper-IgE Syndrome in adulthood: A case based discussion in resource-limited setting

Yıl 2023, Cilt: 40 Sayı: 2, 417 - 420, 19.07.2023

Deshinta Putri Mulya Benedreky Leo , Doni Priambodo Wijisaksono Neneng Ratnasari Mohammad Juffrie

Öz

Hyper-IgE syndrome (HIES) in adult patient is a very rare occurrence with heterogenous clinical manifestation. Most of the previously described cases were from developed countries, capable of performing comprehensive testing to pinpoint the underlying genetic defect. Such facility is often unavailable in resource-limited countries, creating a great diagnostic challenge. Nevertheless, several important clinical clues can significantly aid in hypothesis formulation, such as the presence of primary immunodeficiency, eosinophilia and history of atopy. We describe the process of diagnosing HIES on an 18-year-old Asian male through systematic symptom analysis and strategic use of simple laboratory examination.

Anahtar Kelimeler

Hyper-IgE syndrome DOCK8 adulthood clinical diagnosis primary immunodeficiency

Kaynakça

  • Rael EL, Marshall RT, McClain JJ. The Hyper-IgE Syndromes: Lessons in Nature, From Bench to Bedside. World Allergy Organ J. 2012;5(7):79-87.
  • Chu EY, Freeman AF, Jing H, Cowen EW, Davis J, Su HC, et al. Cutaneous manifestations of DOCK8 deficiency syndrome. Arch Dermatol. 2012;148(1):79-84.
  • Wang Z, Zhang Y, Li G, Huang L, Chen J. Dedicator of cytokinesis 8 deficiency and hyperimmunoglobulin E syndrome: A case report. Medicine (Baltimore). 2022;101(5):e28807.
  • Jin JM, Sun YC, Liu Y, Liu XF, Liu GJ, Han JY, et al. [Hyper-IgE syndrome in adulthood: a case report and literature review]. Zhonghua Jie He He Hu Xi Za Zhi. 2017;40(1):52-7.
  • Shrestha P, Sabharwal G, Ghaffari G. A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa. Case Reports Immunol. 2018;2018:4860902.
  • Chaimowitz NS, Branch J, Reyes A, Vargas-Hernandez A, Orange JS, Forbes LR, et al. A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome. Front Pediatr. 2019;7:130.
  • Engelhardt KR, Gertz ME, Keles S, Schaffer AA, Sigmund EC, Glocker C, et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015;136(2):402-12.
  • Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, et al. Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med. 1999;340(9):692-702.
  • Navabi B, Upton JE. Primary immunodeficiencies associated with eosinophilia. Allergy Asthma Clin Immunol. 2016;12:27.
  • Mogensen TH. Primary Immunodeficiencies with Elevated IgE. Int Rev Immunol. 2016;35(1):39-56.
  • Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr. 2004;144(1):93-9.
  • Freeman AF, Holland SM. Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes. Pediatr Res. 2009;65(5 Pt 2):32R-7R.
  • Liza M, Gaurav D, Prasenjeet M, Swapna J, Binodini B. Autosomal-Recessive Hyper-IgE Syndrome. Indian J Dermatol. 2018;63(1):79-81.
  • Biggs CM, Keles S, Chatila TA. DOCK8 deficiency: Insights into pathophysiology, clinical features and management. Clin Immunol. 2017;181:75-82.
  • Dinwiddie DL, Kingsmore SF, Caracciolo S, Rossi G, Moratto D, Mazza C, et al. Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections. J Allergy Clin Immunol. 2013;131(2):594-7 e1-3.
  • Singh AK, Eken A, Fry M, Bettelli E, Oukka M. DOCK8 regulates protective immunity by controlling the function and survival of RORgammat+ ILCs. Nat Commun. 2014;5:4603.
  • Aydin SE, Freeman AF, Al-Herz W, Al-Mousa HA, Arnaout RK, Aydin RC, et al. Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency. J Allergy Clin Immunol Pract. 2019;7(3):848-55.
  • Gatz SA, Benninghoff U, Schutz C, Schulz A, Honig M, Pannicke U, et al. Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. Bone Marrow Transplant. 2011;46(4):552-6.
  • Hashemi H, Mohebbi M, Mehravaran S, Mazloumi M, Jahanbani-Ardakani H, Abtahi SH. Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities. J Res Med Sci. 2017;22:53.
Toplam 19 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Kurumları Yönetimi
Bölüm Case Report
Yazarlar

Deshinta Putri Mulya 0000-0002-7607-9574

Benedreky Leo 0000-0003-2800-6669

Doni Priambodo Wijisaksono 0000-0002-3746-3557

Neneng Ratnasari 0000-0003-1323-2233

Mohammad Juffrie 0000-0002-2862-3897

Erken Görünüm Tarihi 1 Ağustos 2023
Yayımlanma Tarihi 19 Temmuz 2023
Gönderilme Tarihi 30 Eylül 2022
Kabul Tarihi 13 Ocak 2023
Yayımlandığı Sayı Yıl 2023 Cilt: 40 Sayı: 2

Kaynak Göster

APA Mulya, D. P., Leo, B., Wijisaksono, D. P., Ratnasari, N., vd. (2023). Diagnosing Hyper-IgE Syndrome in adulthood: A case based discussion in resource-limited setting. Deneysel Ve Klinik Tıp Dergisi, 40(2), 417-420.
AMA Mulya DP, Leo B, Wijisaksono DP, Ratnasari N, Juffrie M. Diagnosing Hyper-IgE Syndrome in adulthood: A case based discussion in resource-limited setting. J. Exp. Clin. Med. Temmuz 2023;40(2):417-420.
Chicago Mulya, Deshinta Putri, Benedreky Leo, Doni Priambodo Wijisaksono, Neneng Ratnasari, ve Mohammad Juffrie. “Diagnosing Hyper-IgE Syndrome in Adulthood: A Case Based Discussion in Resource-Limited Setting”. Deneysel Ve Klinik Tıp Dergisi 40, sy. 2 (Temmuz 2023): 417-20.
EndNote Mulya DP, Leo B, Wijisaksono DP, Ratnasari N, Juffrie M (01 Temmuz 2023) Diagnosing Hyper-IgE Syndrome in adulthood: A case based discussion in resource-limited setting. Deneysel ve Klinik Tıp Dergisi 40 2 417–420.
IEEE D. P. Mulya, B. Leo, D. P. Wijisaksono, N. Ratnasari, ve M. Juffrie, “Diagnosing Hyper-IgE Syndrome in adulthood: A case based discussion in resource-limited setting”, J. Exp. Clin. Med., c. 40, sy. 2, ss. 417–420, 2023.
ISNAD Mulya, Deshinta Putri vd. “Diagnosing Hyper-IgE Syndrome in Adulthood: A Case Based Discussion in Resource-Limited Setting”. Deneysel ve Klinik Tıp Dergisi 40/2 (Temmuz 2023), 417-420.
JAMA Mulya DP, Leo B, Wijisaksono DP, Ratnasari N, Juffrie M. Diagnosing Hyper-IgE Syndrome in adulthood: A case based discussion in resource-limited setting. J. Exp. Clin. Med. 2023;40:417–420.
MLA Mulya, Deshinta Putri vd. “Diagnosing Hyper-IgE Syndrome in Adulthood: A Case Based Discussion in Resource-Limited Setting”. Deneysel Ve Klinik Tıp Dergisi, c. 40, sy. 2, 2023, ss. 417-20.
Vancouver Mulya DP, Leo B, Wijisaksono DP, Ratnasari N, Juffrie M. Diagnosing Hyper-IgE Syndrome in adulthood: A case based discussion in resource-limited setting. J. Exp. Clin. Med. 2023;40(2):417-20.
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