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2021, Number 1

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Rev Cubana Pediatr 2021; 93 (1)

Hyper IgE syndrome

Pérez CM, Carrión MR, Casado HI, Bello CJ

Language: Spanish
References: 15
Page: 1-14
PDF size: 718.04 Kb.


ABSTRACT

Introduction: Hyper IgE syndrome is a rare primary immunodeficiency of unknown etiology, with multi systemic impact; it is caused by dominant mutations of the gene that codifies the protein transducer of signal and activator of transcription (STAT-3), therefore it determines a deficit in the generation of Th17 cells from T CD4+ cells, and explains the sensitivity of these patients to the infections caused by Stafilococus aureus and Candida albicans.
Objective: Contribute to the knowledge of this immunodeficiency for its early detection and timely treatment.
Case presentation: Newborn with wide nasal bridge, hypermovility, eczematose rash since the neonatal period; cutaneous, ear, and pulmonary infections with presence of neumotoceles and mucocutaneous candidiasis. There were detected high concentrations of seric IgE and eosinophilia. The patient was treated with immunomodulators, antihestamines, antimicrobial drugs and vitaminotherapy. It was achieved a clinical improvement.
Conclusions: Hyper IgE syndrome-AD is a rare primary immunodeficiency characterized by high concentrations of IgE, eosinophilia, cutaneous abscesses, eczemas, chronical mucocutaneous candidiasis and recurrent pulmonary infections, neumatoceles and bronchiectasis; it also presents alterations in the connective, skeletal and vascular tissue. It is required a high level of clinical suspicion and it is important the early care of the infections, which generally present a systemic torpid response. The therapeutic alternatives are directed to prevent a sepsis and to control the symptoms.


REFERENCES

  1. Vicente J H, Carvajal E, Herrera M. Síndrome de Job o enfermedad alérgica con hiperproducción de IgE: apropósito de un paciente. Medicent Electrón. 2016 [acceso 20/04/2017];20(2). Disponible en: _ Disponible en: _ http://scielo.sld.cu/pdf/mdc/v20n2/mdc08216.pdf

  2. Guisado V, Fraile Rodríguez G, Arechaga Uriarte S. Síndrome de hipergammaglobulinemia IgE con infecciones recurrentes: patogénesis, diagnóstico y aproximación terapéutica. Rev Clin Esp. 2011;211(10):520-6. doi: 10.1016/j.rce.2011.04.009

  3. Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, Miller JA, O'Connell AC, Puck JM. Hyper IgE syndrome with recurrent infections - an autosomal dominant multisystem disorder. N Engl J Med 1999;340:692-702.

  4. Cantisanoa C, Díaza H, Balbaryskia J, Oleastro M, Quiroza H, Gaddia E. Inmunodeficiencia combinada con compromiso cutáneo asociada a mutación en DOCK8. Arch Argent Pediatr. 2014;112(4):e147-51. doi: 10.1590/S0325-00752014000400014

  5. Soldin SJ, Bailey J, Beatey J, Bjorn S, Hicks JM. Pediatric reference ranges for immunoglobulins G, A and M on the Behring nephelometer. Clin Chem. 1996;42: S308.

  6. Tosato F, Bucciol G, Pantano G, Putti MC, Sanzari MC, Basso G, et al. Lymphocytes Subsets Reference Values in Childhood. Cytometry Part A. 2015 [acceso 20/04/2016]:81-5. Disponible en: https://onlinelibrary.wiley.com/doi/pdf/10.1002/cyto.a.22520;81-5.

  7. Vega C, Hernández L, Segura NH, Torres BA. Síndrome de hiperIgE. Diagnóstico y manejo oportunos. Rev Alergia Méx.2008;55(1):38-45.

  8. Tagle MT, Melys A, Castillo A, Norambuena X, Quezada A. Síndrome HiperIgE: a propósito de tres casos clínicos. RevChil Pediatr. 2014;85(3):328-36.

  9. Acosta PL. Un rol para Th17 en las enfermedades respiratorias. Biologist (Lima) 2014;12(1):153-64.

  10. Navarrete I, Flores S, Alonso P, Alonso V, Losada M, Ruiz P, et al. Absceso pulmonar con eosinofilia y aumento de IgE. Rev Patol Respir. 2009;12(supl 1):75-7.

  11. Gamberale A, Moreira I, Bartoletti B, Cruz V, Bezrodnik L, Alberti F, et al. Síndrome de Job asociado a tuberculosis miliar. Medicina. 2014;74(4):311.

  12. Estrada Reyes E, Hernández Román MP, Gamboa Marrufo JD, Valencia Herrera A, Nava Ocampo AA. Hypereosinophilia, Hyper-IgE Syndrome, and Atopic Dermatitis in a Toddler With Food Hypersensitivity. J Investig Allergol Clin Immunol. 2008;18(2):131-5.

  13. D'Alessandro V, Pérez N. Diagnóstico temprano del síndrome de hiperIgE: un desafío. Arch Argent Pediatr. 2004;102(4):290-5.

  14. Pino D, Casado I, Macías C, del Valle Pérez LO, de la Guardia O, Sánchez M. Síndrome de hiperIgE autosómico dominante. Rev Cubana Hematol, Inmunol Hemoter. 2016;32(1):139-49.

  15. Farmand S, Sundin M. Hyper-IgE syndromes: recent advances in pathogenesis, diagnostics and clinical care. Current Opin Hematol. 2015;22(1):12-22.




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