Pino BD, Casado HI, Macías AC, del Valle PLO, de la Guardia POM, Sánchez SM

Language: Spanish
References: 14
Page: 139-149
PDF size: 181.80 Kb.

ABSTRACT

Autosomal dominant hyper IgE syndrome is a rare primary immunodeficiency characterized by elevated levels of IgE, eczematoid dermatitis, recurrent infections of skin and lung and abscess formation with few inflammatory signs. Dental, skeletal and connective tissue disorders are also present. It is caused by dominant mutations of the gene encoding the protein signal transducer and activator of transcription 3 (STAT3) . This mutation deficit conditions in generating Th17 cells from CD4 + T cells which explains the special susceptibility of these patients to infection by S. aureus and Candida albicans. A teenager patient is presented, broad nasal bridge, arched palate, hypermobility, pathological fractures, scoliosis and fall of primary teeth delayed, eczematous rash from neonatal lung, skin infections, ear and mucocutáneous candidiasis. High levels of Ig E serum and eosinophilia were detected. The patient was treated with antibiotics and topical, tracking over 10 years. Conclusions: This syndrome is a rare condition, genetic causes require high degree of suspicion and early management of infections.

REFERENCES

1. Leiva LE, Bezrodnik L, Oleastro M, Condino-Neto A, Costa-Carvalho BT, Sevciovic Grumach A, et al. Primary immunodeficiency diseases in Latin America: Proceedings of the Second Latin American Society for Immunodeficiencies (LASID) Advisory Board. Allergol Immunopathol (Madr). 2011; 39(2):106-110.

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. 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.

4. 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):311-4.

5. Tagle MT, Melys A, Castillo A, Norambuena X, Quezada A. Síndrome Hiper IgE: a propósito de tres casos clínicos. Rev Chil Pediatr. 2014;85(3):328-36.

6. 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.

7. Vásquez C, Martín Mateos MA, Giner MT, Sierra JI, Plaza AM, Díaz P, et. al. Otomastoiditis candidiásica y síndrome de hiper IgE. Allergol Immunopathol (Madr). 2004 Mar-Apr;32(2):82-5.

8. Montoya CJ, García de Olarte D. Síndrome de Hiperinmunoglobulinemia E con infecciones recurrentes (SHIEIR). CONSENSO LAGID, Grupo Latinoamericano de Inmunodeficiencias Primarias. 2001.

9. Navarrete Isidoro O, Flores Segovia J, Alonso Peces E, Alonso Viteri S, Losada Molina C, Ruiz Peña A, et. al. Absceso pulmonar con eosinofilia y aumento de IgE. Rev Patol Respir. 2009;12(supl 1):75-7.

10. de la Guardia Peña OM, Dr. Ustáriz García CR, García García MA, Morera Barrios LM. Síndrome de hiper IgE. Presentación de un caso. Rev Cubana Hematol Inmunol Hemoter. 2012;28(3):299-305.

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

12. D’Alessandro V, Pérez N. Diagnóstico temprano del síndrome de hiper IgE: un desafío. Arch Argent Pediatr. 2004;102(4):290-5.

13. Vega Orozco C, Hernández Velásquez L, Segura Méndez NH, Torres Salazar BA. Síndrome de hiper IgE. Diagnóstico y manejo oportunos. Revista Alergia México. 2008;55(1):38-45.

14. Campins M, Palacín PS. Vacunas recomendadas en pacientes afectados de una inmunodeficiencia primaria y sus familiares. An Pediatr (Barc). 2011;75(6):413.e1-22.