[PAGID] Ommen syndrome or something else?

[Jung, Lawrence]

Can this be maternal-fetal GVHD?  Have you HLA-type the parents?

 

Larry Jung, MD

Children's National Medical Center

Washington, DC

 

________________________________

From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Howard M
Lederman
Sent: Thursday, February 25, 2010 2:54 PM
To: PAGID LISTSERV
Cc: Ada Hamosh; Aida Bytyci
Subject: [PAGID] Ommen syndrome or something else?

 

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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