Advertisement

Pediatric Nephrology

, Volume 21, Issue 8, pp 1200–1205 | Cite as

Hyper-IgE syndrome and autoimmunity in Mexican children

  • Marco Yamazaki-NakashimadaEmail author
  • Samuel Zaltzman-Girshevich
  • Silvestre Garcia de la Puente
  • Beatriz De Leon-Bojorge
  • Sara Espinosa-Padilla
  • Marimar Saez-de-Ocariz
  • Daniel Carrasco-Daza
  • Victor Hernandez-Bautista
  • Lorenzo Pérez-Fernandez
  • Francisco Espinosa-Rosales
Brief Report

Abstract

Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by recurrent skin abscesses, recurrent pneumonia with pneumatocele formation, eczema, eosinophilia, and elevated levels of serum IgE. Patients with the autosomal recessive (AR) form of HIES appear to be prone to developing autoimmune diseases. We present two cases of HIES with autoimmune complications; one case was a product of a consanguineous marriage, the other one was a sporadic case. The first patient presented with recurrent episodes of erythema nodosum, warts, bronchiolitis obliterans and thrombocytopenia. The second patient developed glomerulonephritis resulting in endstage renal failure. She later developed malar rash, oral ulcers, cerebral infarcts with vasculitis and positive ANA, anti-dsDNA, and antiphospholipid antibodies. We discuss the dilemma in treating patients who present with both primary immunodeficiency and autoimmunity.

Keywords

Systemic lupus erythematosus Antiphospholipid syndrome Hyper-IgE syndrome Autoimmunity Primary immunodeficiency CNS vasculitis 

Notes

Acknowledgements

The authors thank Dr. Joann Lin from the department of Pediatrics, Division of Allergy, Immunology and Rheumatology at UCLA and an anonymous reviewer for helpful discussions.

References

  1. 1.
    Buckley RH, Wray BB, Belmaker EZ (1972) Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics 49:59-70PubMedGoogle Scholar
  2. 2.
    Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, Miller JA, O’Connell AC, Puck JM (1999) Hyper-IgE syndrome with recurrent infections- an autosomal dominant multisystemic disorder. N Engl J Med 340:692–702CrossRefGoogle Scholar
  3. 3.
    Grimbacher B, Schaffer A, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson P, Belohradsky BH, Buckley RH, Cossu F, Español T, Garty BZ, Matamoros N, Myers LA, Nelson RP, Ochs H, Renner ED, Wellinghausen N, Puck JM (1999) Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 65:735–744CrossRefGoogle Scholar
  4. 4.
    Renner ED, Puck J, Holland SM, Schmitt M, Weiss M, Frosch M, Bergmann M, Davis J, Belohradsky BH, Grimbacher B (2004) Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 144:93–99CrossRefGoogle Scholar
  5. 5.
    Grimbacher B, Holland SM, Puck J (2005) Hyper-IgE syndromes. Immunol Rev 203:244–250CrossRefGoogle Scholar
  6. 6.
    Schopfer K, Feldges A, Baerlocher K, Parisot RF, Wilhelm JA, Matter L (1983) Systemic lupus erythematosus in Staphylococcus aureus hyperimmunoglobulinaemia E syndrome. Br Med J (Clin Res Ed) 287:524–526CrossRefGoogle Scholar
  7. 7.
    North J, Kotecha S, Houtman P, Whaley K (1997) Systemic lupus erythematosus complicating hyper IgE syndrome. Br J Rheumatol 36:297–298CrossRefGoogle Scholar
  8. 8.
    Brugnoni D, Franceschini F, Airo P, Cattaneo R (1998) Discordance for systemic lupus erythematosus and hyper IgE syndrome in a pair of monozygotic twins. Br J Rheumatol 37:807–808CrossRefGoogle Scholar
  9. 9.
    Leyh F, Wendt V, Scherer R (1986) Systemic lupus erythematosus and hyper-IgE syndrome in a 13-year-old child. Z Hautkr 61:611–614PubMedGoogle Scholar
  10. 10.
    Bong CN, Huang SC, Wang CL, Liu PM, Chen HH, Yang KD (2005) Cyclosporin A therapy in a case with hyperimmunoglobulin E and nephrotic syndrome. J Microbiol Immunol Infect 1:60–64Google Scholar
  11. 11.
    Tanji C, Yorioka N, Kanahara K (1999) Hyperimmunoglobulin E syndrome associated with nephrotic syndrome. Intern Med 38:491–494CrossRefGoogle Scholar
  12. 12.
    Ozarmagan G, Didem Yazganoglu K, Agacfidan A (2005) Hyper-IgE syndrome with widespread premalign oral papillomas treated with interferon alpha2b. Acta Derm Venereol 85:433–435CrossRefGoogle Scholar
  13. 13.
    Sehrt P, Zielen S, Gerein V, Herrmann G, Hofmann D (1999) Hyper-IgE syndrome- two case reports of unusual complications. Immun Infekt 22:156–157Google Scholar
  14. 14.
    Clark TJ, Herod JJ, Kehoe S, Luesley DM (1998) The development of invasive vulvar cancer in a patient with Job’s syndrome, a rare immunodeficient condition. Br J Obstet Gynaecol 105:468–470CrossRefGoogle Scholar
  15. 15.
    Deerojanawong J, Chang AB, Eng PA, Robertson CF, Kemp AS (1997) Pulmonary diseases in children with severe combined immune deficiency and DiGeorge syndrome. Pediatr Pulmonol 24:324–330CrossRefGoogle Scholar
  16. 16.
    Soto Campos JG, Cano Gomez S, Capote Gil F (1997) Bronchiolitis obliterans organizing pneumonia in common variable immunodeficiency. Arch Bronconeumol 33:548CrossRefGoogle Scholar
  17. 17.
    Ito M, Nakagawa A, Hirabayashi N, Asai J (1997) Bronchiolitis obliterans in ataxia-telangiectasia. Virchows Arch 430:131–137CrossRefGoogle Scholar
  18. 18.
    Zahraa J, Herold B, Abrahams C, Johnson D (1996) Bronchiolitis obliterans organizing pneumonia in a child with acquired immunodeficiency syndrome. Pediatr Infect Dis J 15:448–451CrossRefGoogle Scholar
  19. 19.
    Kuzmanovska DB, Sahpazova EM, Grujovska SJ, Trajkovski Z (2004) Renal infarction in a child with systemic lupus erythematosus. Pediatr Nephrol 19:685–687CrossRefGoogle Scholar
  20. 20.
    Arkwright PD, Abinun M, Cant AJ (2002) Autoimmunity in human primary immunodeficiency diseases. Blood 99:2694–2702CrossRefGoogle Scholar
  21. 21.
    Etzioni A (2003) Immunedeficiency and autoimmunity. Autoimmun Rev 2:364–369CrossRefGoogle Scholar
  22. 22.
    Ito R, Mori M, Katakura S, Kobayashi N, Naruto T, Osamura Y, Aihara Y, Yokota S (2003) Selective insufficiency of IFN-γ secretion in patients with hyper-IgE syndrome. Allergy 58:329–336CrossRefGoogle Scholar
  23. 23.
    Verthelyi D, Klinman DM (1999) Balance between type 1 and type 2 cytokine-secreting cells: impact on disease activity in systemic lupus erythematosus. In: Kammer GM, Tsokos GC (eds) Lupus: Molecular and cellular pathogenesis. Humana, Totowa, NJGoogle Scholar
  24. 24.
    Elkayam O, Tamir R, Pick AI, Wysenbeek A (1995) Serum IgE concentrations, disease activity and atopic disorders in systemic lupus erythematosus. Allergy 50:94–96PubMedGoogle Scholar
  25. 25.
    Laurent J, Lagrue G, Sobel A (1986) Increased serum IgE levels in patients with lupus nephritis (letter). Am J Nephrol 6:413–414CrossRefGoogle Scholar
  26. 26.
    Tuma SN, Llach FF, Sostrin S, Dubois EL, Massry SG (1981) Glomerular IgE deposits in patients with lupus nephritis. Am J Nephrol 1:31–36CrossRefGoogle Scholar
  27. 27.
    Bonilla FA, Bernstein IL, Khan DA, Ballas ZK, Chinen J, Frank MM, Kobrynski LJ, Levinson AI, Mazer B, Nelson RP Jr, Orange JS, Routes JM, Shearer WT, Sorensen RU; American Academy of Allergy, Asthma and Immunology; American College of Allergy, Asthma and Immunology; Joint Council of Allergy, Asthma and Immunology (2005) Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 94 (Suppl 1):S1–63CrossRefGoogle Scholar
  28. 28.
    Fountain NB, Lopes MB (1999) Control of primary angiitis of the CNS associated with cerebral amyloid angiopathy by cyclophosphamide alone. Neurology 52:660–662CrossRefGoogle Scholar
  29. 29.
    Baca V, Lavalle C, Garcia R, Catalan T, Sauceda JM, Sanchez G, Martinez T, Ramirez ML, Marquez LM, Rojas JC (1999) Favorable response to intravenous methylprednisolone and cyclophosphamide in children with severe neuropsychiatric lupus. J Rheumatol 26:432–439PubMedGoogle Scholar
  30. 30.
    Beimler JHM, Andrassy F (2004) Cyclophosphamide treatment in systemic necrotizing vasculitis and lupus nephritis: How long? How much? Pediatr Nephrol 19:949–955CrossRefGoogle Scholar
  31. 31.
    Etzioni A, Shehadeh N, Brecher A, Yorman S, Pollack S (1997) Cyclosporin A in hyperimmunoglobulin E syndrome. Ann Allergy Asthma Immunol 78:413–414CrossRefGoogle Scholar
  32. 32.
    Lepore L, Kiren V (2000) Autologous bone marrow transplantation versus alternative drugs in pediatric rheumatic diseases. Haematologica 85(Suppl 11):89–92PubMedGoogle Scholar
  33. 33.
    Gennery AR, Flood TJ, Abinun M, Cant AJ (2000) Bone marrow transplantation does not correct the hyper IgE syndrome. Bone Marrow Transplant 25:1303–1305CrossRefGoogle Scholar
  34. 34.
    Wakim M, ALazard M, Yajima A, Speights D, Saxon A, Stiehm ER (1998) High dose intravenous immunoglobulin in atopic dermatitis and hyper-IgE syndrome. Ann Allergy Asthma Immunol 81:153–158CrossRefGoogle Scholar

Copyright information

© IPNA 2006

Authors and Affiliations

  • Marco Yamazaki-Nakashimada
    • 1
    Email author
  • Samuel Zaltzman-Girshevich
    • 2
  • Silvestre Garcia de la Puente
    • 2
  • Beatriz De Leon-Bojorge
    • 3
  • Sara Espinosa-Padilla
    • 1
  • Marimar Saez-de-Ocariz
    • 4
  • Daniel Carrasco-Daza
    • 3
  • Victor Hernandez-Bautista
    • 1
  • Lorenzo Pérez-Fernandez
    • 5
  • Francisco Espinosa-Rosales
    • 1
  1. 1.Department of Clinical ImmunologyInstituto Nacional de PediatríaMexico CityMexico
  2. 2.Department of NephrologyInstituto Nacional de PediatríaMexico CityMexico
  3. 3.Department of PathologyInstituto Nacional de PediatríaMexico CityMexico
  4. 4.Department of DermatologyInstituto Nacional de PediatríaMexico CityMexico
  5. 5.Department of PulmonologyInstituto Nacional de PediatríaMexico CityMexico

Personalised recommendations