[PAGID] Ommen syndrome or something else?

[Howard M Lederman]

I saw a puzzling pt with diffuse congenital erythroderma/ichthyosis (colloidion baby?); pseudomonas sepsis at age 2 months; died at age 3 mos with disseminated CMV (lungs, liver, lymph nodes). Oriental consanguinious parents.ALC about 2500; CD3 59%, CD4 57% (1318/cu mm), CD8 2%, CD19 19%74% of CD3 cells were CD45RO+/HLADR+76% of CD3 cells were CD45RO+/CD25+Mitogens: Unstim 265; PHA 35,120; ConA 39,275IgG 465, IgA 19, IgM 17, IgE 10,210; multiple oligoclonal bands on IFEAt autopsy - hypoplastic thymus with few Hassall's corpuscles; lymph nodes depleted of lymphocytesThe low CD8 count made me think of Zap-70 deficiency but I thought that her mitogen responses were too good to fit.Otherwise, the picture looked like Ommen syndrome, but the RAG-1 and RAG-2 mutation sequences were normal. We would like to get a genetic dx since this is a young family who wishes to have more children.Does anyone have a suggestion as to the next genes to sequence?  Howard

Howard M. Lederman, M.D., Ph.D. 
Professor of Pediatrics, Medicine and Pathology 
Division of Pediatric Allergy and Immunology 
Johns Hopkins Hospital - CMSC 1102 
600 N. Wolfe Street 
Baltimore, MD 21287-3923 
Phone: 410-955-5883 
Fax: 410-955-0229 
Email: Hlederm1 at jhem.jhmi.edu 

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