[CIS PIDD] 8mo old boy hypereosinophilia

[Verbsky, James]

Did you stain for Foxp3??  Either way..you may have to sequence the gene.  We had teenager with IBD, past history of eczema and food allergies with normal 127-25hi cells and normal percentages of Foxp3+ cells that had a Foxp3 point mutation and IPEX.  CD127 is down regulated on activation, so I wouldnt assume that 127-25hi are Tregs.  Our lab confirms that these cell express Foxp3, but even then to be sure you would need to sequence.

Best

James


James W. Verbsky MD/PhD
Associate Professor of Pediatrics and Medical Microbiology and Genetics
Medical College of Wisconsin
Milwaukee, WI  53211
jverbsky at mcw.edu
414-266-6701 (phone)
414-266-6695 (fax)



-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Hoernes Miriam
Sent: Thursday, September 20, 2012 10:20 AM
To: 'Dr. Carsten Speckmann'; pagid at list.clinimmsoc.org
Cc: Reichenbach Janine
Subject: Re: [CIS PIDD] 8mo old boy hypereosinophilia


Thank you very much for your input. We had already tested the T reg (CD4CD25CD127-) and they where elevated (absolute (473/ul) and relative values (38%)). In addition we have not found any autoantibodies (thyroid, pancreas). There are patients with IPEX-like Syndrome described in the literature with normal Treg numbers but not with elevated ones. Do you think we need further investigation to exclude these syndromes as well?
Thank you very much,

Miriam Hoernes

Dr. med. Miriam Hoernes
Ärztin Abteilung Immunologie/Allergologie Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies Universitäts-Kinderspital Zürich Steinwiesstrasse 75
CH-8032 Zürich
Tel.: +41 (0)44-266-7311
Fax: +41 (0)44-266-7914
e-mail: miriam.hoernes at kispi.uzh.ch






-----Original Message-----
From: Dr. Carsten Speckmann [mailto:carsten.speckmann at uniklinik-freiburg.de]
Sent: Tuesday, September 18, 2012 5:00 PM
To: pagid at list.clinimmsoc.org; Hoernes Miriam
Subject: Re: [CIS PIDD] 8mo old boy hypereosinophilia

In addition to the mentioned differentials, you might also consider IPEX.
We have seen a large family with very variable phenotype, some patients had severe eczema during their 1st year of life and later onset of diarrhea and other problems (so that absence of gastrointestinal symptoms might not be sufficient to exclude this).

Carsten Speckmann

--
Dr. med. Carsten Speckmann
Facharzt
Zentrum fuer Kinderheilkunde und Jugendmedizin Centrum fuer Chronische Immundefizienz - CCI Universitaet Freiburg Mathildenstr. 1
79106 Freiburg
Germany

phone: +49 (0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de
web: www.cci.uniklinik-freiburg.de


Am 18.09.12 16:24, schrieb Church, Joseph:

> Colleagues:

>

> Consider Wiscott-Aldrich - ? platelet size.

>

> Consider Omenn's or maternal GVHD - ? CD45RO/RA, T-cell receptor oligoclonality.

>

> Joe Church

> Children's Hospital Los Angeles

>

>

> -----Original Message-----

> From: pagid-bounces at list.clinimmsoc.org 

> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Reichenbach 

> Janine

> Sent: Tuesday, September 18, 2012 6:57 AM

> To: pagid at list.clinimmsoc.org; 'pagid-bounces at list.clinimmsoc.org'

> Cc: Hoernes Miriam; Seger, Reinhard

> Subject: [CIS PIDD] 8mo old boy hypereosinophilia

>

>

>

>

>

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