SÍNDROME DE HIPERINMUNOGLOBULINEMIA E: REPORTE DE CASO CLÍNICO UNIVERSIDAD CATÓLICA DE CUENCA – ECUADOR, CARRERA DE MEDICINA MATRIZ
Main Article Content
Keywords
Hyperimmunoglobulinemia/, Immunoglobulin E/, pulmonary/, bronchiectasis
Abstract
Hyperimmunoglobulinemia E Syndrome (HIES) is a medical condition that can be sporadic or inherited. It consists of multiple overlapping primary immunodeficiencies and is characterized by a classic triad of elevated immunoglobulin E (IgE) levels, recurrent pneumonias, and skin abscesses. The prevalence of this pathology is 1/1,000,000 live births.
References
1. Minegishi Y. Hyper-IgE syndrome, 2021 update. Allergol Int. 2021;70(4):407-14.
2. Peirolo A, Verolet C, Ranza E, Rohr M, Laurent M, Ruchonnet-Metrailler I, et al. Hyper-IgE syndrome presenting with early life craniosynostosis in monozygotic twin sisters. Pediatr Allergy Immunol Off Publ Eur Soc Pediatr Allergy Immunol. 2023;34(4):e13944.
3. Gharehzadehshirazi A, Amini A, Rezaei N. Hyper IgE syndromes: A clinical approach. Clin Immunol. 2022;237:108988.
4. Tsilifis C, Freeman AF, Gennery AR. STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions. J Clin Immunol. 2021;41(5):864-80.
5. Zhao R, Wang C, Sun C, Jiang K, Wu S, Pan F, et al. A Novel STAT3 Mutation in a Patient with Hyper-IgE Syndrome Diagnosed with a Severe Necrotizing Pulmonary Infection. J Asthma Allergy. 2021;14:219-27.
6. Qiu MZ, Zhang H, Wu D, Chen RC, Chen SZ, Wang LW. [Hyper-IgE syndrome in adults characterized by disseminated mixed infection: a case report and literature review]. Zhonghua Jie He He Hu Xi Za Zhi Zhonghua Jiehe He Huxi Zazhi Chin J Tuberc Respir Dis. 2022;45(6):546-51.
7. Romano R, Borrelli M, Cirillo E, Giardino G, Spadaro G, Crescenzi L, et al. Respiratory Manifestations in Primary Immunodeficiencies: Findings From a Pediatric and Adult Cohort. Arch Bronconeumol. 2021;57(11):712-4.
8. Bergerson JRE, Freeman AF. An Update on Syndromes with a Hyper-IgE Phenotype. Immunol Allergy Clin North Am. 2019;39(1):49-61.
9. Kasuga K, Nakamoto K, Doi K, Kurokawa N, Saraya T, Ishii H. Chronic pulmonary aspergillosis in a patient with hyper-IgE syndrome. Respirol Case Rep. 2022;10(1):e0887.
10. Tavassoli M, Abolhassani H, Yazdani R, Ghadami M, Azizi G, Abdolrahim Poor Heravi S, et al. The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long-term follow-up and genetic analysis. Pediatr Allergy Immunol Off Publ Eur Soc Pediatr Allergy Immunol. 2019;30(4):469-78.
11. Mayne. [Hyper IgE syndrome: atopic dermatitis as first manifestation. Case report] - PubMed [Internet]. [citado 4 de septiembre de 2023]. Disponible en:
https://pubmed.ncbi.nlm.nih.gov/34309321/
12. Bhutani N, Sharma U, Kumar A, Kajal P. Pediatric hyperimmunoglobulin E syndrome (Job’s syndrome) with STAT3 mutation: A case report. Ann Med Surg. 2021;66:102452.
13. Cedano J, Bendaram SR, Ejikeme C. HYPERIMMUNOGLOBULIN E SYNDROME ASSOCIATED WITH PULMONARY ABSCESS IN PATIENT STATUS POST PNEUMONECTOMY: COMPLICATED “JOB”. CHEST. 2020;158(4):A1995.
14. Shimizu D, Otani S, Sugimoto S, Yamamoto H, Tomioka Y, Shiotani T, et al. Lung Transplantation for Bronchiectasis Due to Hyperimmunoglobulin E Syndrome. Ann Thorac Surg.2022;113(4):e251-3.
15. Toribio-Dionicio C, Cubas-Guzmán D, Guerra-Canchari P, García-Sánchez V, Córdova-Calderón W. Pulmonary Infections and Surgical Complications in a Young Girl with Signal Transducer and Activator of Transcription 3 Loss-of-Function Mutation Hyperimmunoglobulin E Syndrome: A Case Report. Pediatr Allergy Immunol Pulmonol. 2021;34(1):33-7.
16. Cruz‐Portelles A, Estopiñan‐Zuñiga D. A new case of Job’s syndrome at the clinic: A diagnostic challenge. Pulmonology. 2014;20(2):107-10.
2. Peirolo A, Verolet C, Ranza E, Rohr M, Laurent M, Ruchonnet-Metrailler I, et al. Hyper-IgE syndrome presenting with early life craniosynostosis in monozygotic twin sisters. Pediatr Allergy Immunol Off Publ Eur Soc Pediatr Allergy Immunol. 2023;34(4):e13944.
3. Gharehzadehshirazi A, Amini A, Rezaei N. Hyper IgE syndromes: A clinical approach. Clin Immunol. 2022;237:108988.
4. Tsilifis C, Freeman AF, Gennery AR. STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions. J Clin Immunol. 2021;41(5):864-80.
5. Zhao R, Wang C, Sun C, Jiang K, Wu S, Pan F, et al. A Novel STAT3 Mutation in a Patient with Hyper-IgE Syndrome Diagnosed with a Severe Necrotizing Pulmonary Infection. J Asthma Allergy. 2021;14:219-27.
6. Qiu MZ, Zhang H, Wu D, Chen RC, Chen SZ, Wang LW. [Hyper-IgE syndrome in adults characterized by disseminated mixed infection: a case report and literature review]. Zhonghua Jie He He Hu Xi Za Zhi Zhonghua Jiehe He Huxi Zazhi Chin J Tuberc Respir Dis. 2022;45(6):546-51.
7. Romano R, Borrelli M, Cirillo E, Giardino G, Spadaro G, Crescenzi L, et al. Respiratory Manifestations in Primary Immunodeficiencies: Findings From a Pediatric and Adult Cohort. Arch Bronconeumol. 2021;57(11):712-4.
8. Bergerson JRE, Freeman AF. An Update on Syndromes with a Hyper-IgE Phenotype. Immunol Allergy Clin North Am. 2019;39(1):49-61.
9. Kasuga K, Nakamoto K, Doi K, Kurokawa N, Saraya T, Ishii H. Chronic pulmonary aspergillosis in a patient with hyper-IgE syndrome. Respirol Case Rep. 2022;10(1):e0887.
10. Tavassoli M, Abolhassani H, Yazdani R, Ghadami M, Azizi G, Abdolrahim Poor Heravi S, et al. The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long-term follow-up and genetic analysis. Pediatr Allergy Immunol Off Publ Eur Soc Pediatr Allergy Immunol. 2019;30(4):469-78.
11. Mayne. [Hyper IgE syndrome: atopic dermatitis as first manifestation. Case report] - PubMed [Internet]. [citado 4 de septiembre de 2023]. Disponible en:
https://pubmed.ncbi.nlm.nih.gov/34309321/
12. Bhutani N, Sharma U, Kumar A, Kajal P. Pediatric hyperimmunoglobulin E syndrome (Job’s syndrome) with STAT3 mutation: A case report. Ann Med Surg. 2021;66:102452.
13. Cedano J, Bendaram SR, Ejikeme C. HYPERIMMUNOGLOBULIN E SYNDROME ASSOCIATED WITH PULMONARY ABSCESS IN PATIENT STATUS POST PNEUMONECTOMY: COMPLICATED “JOB”. CHEST. 2020;158(4):A1995.
14. Shimizu D, Otani S, Sugimoto S, Yamamoto H, Tomioka Y, Shiotani T, et al. Lung Transplantation for Bronchiectasis Due to Hyperimmunoglobulin E Syndrome. Ann Thorac Surg.2022;113(4):e251-3.
15. Toribio-Dionicio C, Cubas-Guzmán D, Guerra-Canchari P, García-Sánchez V, Córdova-Calderón W. Pulmonary Infections and Surgical Complications in a Young Girl with Signal Transducer and Activator of Transcription 3 Loss-of-Function Mutation Hyperimmunoglobulin E Syndrome: A Case Report. Pediatr Allergy Immunol Pulmonol. 2021;34(1):33-7.
16. Cruz‐Portelles A, Estopiñan‐Zuñiga D. A new case of Job’s syndrome at the clinic: A diagnostic challenge. Pulmonology. 2014;20(2):107-10.
Article Sidebar
Published
Nov 10, 2023
Article Details
How to Cite
María Vanessa Enderica Díaz, Dr. Andrés Santiago Bueno Castro, Dr. Pedro José Quizhpe Marín, Dr. Francisco Faicán Benenaula, & Juan Pablo Uyaguari. (2023). SÍNDROME DE HIPERINMUNOGLOBULINEMIA E: REPORTE DE CASO CLÍNICO UNIVERSIDAD CATÓLICA DE CUENCA – ECUADOR, CARRERA DE MEDICINA MATRIZ. Journal of Population Therapeutics and Clinical Pharmacology, 30(18), 1946–1952. https://doi.org/10.53555/jptcp.v30i18.3380
Section
Articles
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
All articles published in JPTCP are licensed under Copyright Creative Commons Attribution-NonCommercial 4.0 International License.
Author Biographies
María Vanessa Enderica Díaz
Estudiante de la carrera de Medicina de la Universidad Católica de Cuenca
Dr. Andrés Santiago Bueno Castro
Docente Universidad Católica de Cuenca
Dr. Pedro José Quizhpe Marín
Instituto de Diagnostico por Imagen (IDI)
Dr. Francisco Faicán Benenaula
Instituto de Diagnostico por Imagen (IDI)
Juan Pablo Uyaguari
Hospital San Juan de Dios