Progressive multifocal leukoencephalopathy in a patient with lymphoma and presumptive hyper IgE syndrome
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We, herein, report a 23-year-old male with a rare inherited immunodeficiency disease, hyperimmunoglobulin IgE syndrome (HIES), who developed progressive multifocal leukoencephalopathy (PML) and lymphoma simultaneously. Primary immunodeficiency of the patient has remained undiagnosed until adulthood. PML is a severe demyelinating disease of the central nervous system caused by John Cunningham virus. HIES is a rare, inherited immunodeficiency characterized by high serum levels of IgE, recurrent staphylococcal infection, eczema, and hypereosinophilia. PML may accompany primary immunodeficiency syndromes, but the association with HIES is exceedingly rare. We discuss the imaging findings, medical management, and a review of related literature on primary immunodeficiency cases complicating with PML.
KeywordsProgressive multifocal leukoencephalopathy (PML) Hyperimmunoglobulin E syndrome (HIES) B cell lymphoma JC virus
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Conflict of interest
The authors declare that they have no conflict of interest.
- Al Shekaili L et al (2016) Novel mutation in DOCK8-HIES with severe phenotype and successful transplantation. Clin Immunol. doi: 10.1016/j.clim.2016.08.002
- Angelini L et al (2001) Progressive multifocal leukoencephalopathy in a child with hyperimmunoglobulin E recurrent infection syndrome and review of the literature. Neuropediatrics 32(5):250–255Google Scholar
- Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kütükcüler N, Karaca N, Gonzalez-Granado L, Abbott J, Al-Zahrani D, Rezaei N, Baz Z, Thiel J, Ehl S, Marodi L, Orange JS, Sawalle-Belohradsky J, Keles S, Holland SM, Sanal Ö, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Hönig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Dückers G, Al-Herz W, Pai S-Y, Geha R, Notheis G, Schwarze C-P, Tavil B, Azik F, Bienemann K, Grimbacher B, Heinz V, Gaspar HB, Aydin R, Hagl B, Gathmann B, Belohradsky BH, Ochs HD, Chatila T, Renner ED, Su H, Freeman AF, Engelhardt K, Albert MH (2015) DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol 35(2):189–198CrossRefPubMedGoogle Scholar
- Berger JR (2014) Progressive multifocal leukoencephalopathy. Handb Clin Neurol 123:357–376Google Scholar
- Dellepiane RM, Engelhardt K, Pfeifer D Hyper IgE syndrome: fatal progressive multifocal leukoencephalopathy in an Italian child with DOCK8 mutation. Istanbul, 2010, Meeting of the European Society for Immunodeficiencies (ESID, conference 14). (Istanbul).Google Scholar
- Narula S et al (2007) Progressive multifocal leukoencephalopathy in a patient with common variable immunodeficiency and abnormal CD8+ T-cell subset distribution. Annals of Allergy, Asthma & Immunology 98(5):483–489Google Scholar