Hyper-IgE syndrome and autoimmunity in Mexican children.
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.
Yamazaki-Nakashimada
Marco
M
Department of Clinical Immunology, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, Col. Insurgentes Cuicuilco, Mexico City, Mexico. yzki71@yahoo.com.mx
Zaltzman-Girshevich
Samuel
S
Garcia de la Puente
Silvestre
S
De Leon-Bojorge
Beatriz
B
Espinosa-Padilla
Sara
S
Saez-de-Ocariz
Marimar
M
Carrasco-Daza
Daniel
D
Hernandez-Bautista
Victor
V
Pérez-Fernandez
Lorenzo
L
Espinosa-Rosales
Francisco
F
D001327:Autoimmune Diseases / Q000276:immunology*; D015551:Autoimmunity; D002648:Child; D005260:Female; D006801:Humans; D007589:Job Syndrome / Q000150:complications* / Q000276:immunology*; D008297:Male; D008800:Mexico