[PAGID] Ommen syndrome or something else?

[Cowan, Mort]

Howard, it wasn't clear if you ruled out maternal engraftment or if  
you sequenced ZAP70? IL7Ra would be next, probably, then maybe CD45  
and the CD3 chains. Mort

Mort Cowan
Sent from my iPhone

On Feb 25, 2010, at 2:54 PM, "Howard M Lederman" <hlederm1 at jhmi.edu>  
wrote:


> 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 39,275

>

> IgG 465, IgA 19, IgM 17, IgE 10,210; multiple oligoclonal bands on IFE

>

> At autopsy - hypoplastic thymus with few Hassall's corpuscles; lymph  

> nodes depleted of lymphocytes

>

> The 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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