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Day 3 at IDWEEK 2012
Drs. Rebecca Buckley and Steven Holland provided an excellent “Meet-the-Professor Session” to start off day three of IDweek. This was an enlightening discussion about the work done to identify new immunodeficient states affecting both children and adults.
Dr. Holland discussed the recent Aug. 23 paper in the New England Journal of Medicine (http://www.nejm.org/doi/full/10.1056/NEJMoa1111160), which described cases of women and men of East Asian decent suffering from complex opportunistic infections due to a previously unknown cause. Dr. Holland described the innovative approach utilized in identifying a new class of acquired immunodeficiency due to high titer IgG4 autoantibodies to interferon-gamma in patients in Thailand and Taiwan. While presenting only in women of East Asian decent in the US, this immunodeficiency was found to be equally prevalent in men in women in Thailand, with adult onset ranging from age 18 to 50 years of age and above.
A question that remains to be answered is the impact of children born to mothers with this autoantibody condition. Dr. Holland closed the session with a discussion about a devastating disease affecting children and adults that results in squamous cell carcinomas of the cervix, penis, and rectum at a very young age in patients, as well as disseminated molluscum, humanpapilloma virus, histoplasmosis, severe varicella disease and mycobacterial disease.
Research into patients with these similar presentations has revealed an autosomal dominant condition found due to alterations in GATA binding protein 2 (GATA2), a protein that is involved in a multitude of critical inflammatory and immune processes. Certainly these are two new diseases to add to the differential in patient presenting with severe opportunistic infections without another explanation as to the cause.