Hyper-IgE syndrome and autoimmunity in Mexican children
- 271 Downloads
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.
KeywordsSystemic lupus erythematosus Antiphospholipid syndrome Hyper-IgE syndrome Autoimmunity Primary immunodeficiency CNS vasculitis
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.
- 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
- 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
- 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
- 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
- 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