[CIS PIDD] [cis-pidd] FOXN1 heterozygous phenotype?

Fri Dec 30 10:09:21 EST 2016

Hi Megan,

Have the parents been sequenced?   I would question the pathogenicity of the mutation if one of the parents were carriers and well.

You might consider TCR spectratyping to see if there is any qualitative abnormalities in the T cell repertoire.

Best regards,
Mike

Michael Keller MD
Assistant Professor
Childrens National Medical Center

> On Dec 30, 2016, at 9:34 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> Megan - You should touch base with Elena Perez. She follows a leaky SCID patient (picked up be NBS) with FOXN1 mutation that was passed from the father. 
> 
> Jen Leiding
> 
> 
> 
> 
>> On 12/29/16, 10:16 PM, "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> wrote:
>> 
>> Normal.
>> 
>> CD19 - 957 cells/uL
>> CD56/16 - 766
>> 
>> no other B cell phenotyping, but serum IgM was normal (36).
>> 
>> Megan
>> 
>> ________________________________________
>> From: CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
>> Sent: Thursday, December 29, 2016 9:09 PM
>> To: CIS-PIDD
>> Subject: Re: [cis-pidd] FOXN1 heterozygous phenotype?
>> 
>> Hi Megan,
>> How are the B and NK cells?
>> Elie
>> 
>> Élie Haddad,
>> CHU Ste-Justine,
>> University of Montreal, Canada
>> 
>> On Dec 29, 2016, at 20:57, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
>> 
>> 
>> Hi,
>> 
>> 
>> 
>> I was wondering if anyone had seen a patient with T cell deficiency due to a heterozygous FOXN1 deficiency?
>> 
>> 
>> 
>> I'm seeing a 2mo male infant referred for low TREC on newborn screen (~1/2 normal).  Initial CD3 count was ~900, and has subsequently dropped to: CD3 - 543, CD4 - 403, CD8 - 121.  All other counts normal.  Proliferation to mitogens has been normal twice, and TREC copies per CD3 cell was normal.  Slightly increased CD45RO for age (35% CD4/CD45RO).  HIV negative, Chr22 FISH negative.
>> 
>> 
>> 
>> A SCID gene panel showed a heterozygous FOXN1 variant leading to an early stop codon (deletion/duplication analysis normal).  He does not have alopecia universalis as reported in FOXN1 deficient patients.   For now we are monitoring closely, and trying to determine clinically if there is a need for transplant. (which probably wouldn't be helpful/needed if this were due to thymic defect with FOXN1).
>> 
>> 
>> 
>> Thanks,
>> 
>> 
>> 
>> Megan
>> 
>> 
>> 
>> 
>> Megan A. Cooper, MD, PhD
>> Assistant Professor, Department of Pediatrics
>> Division of Rheumatology
>> Washington University School of Medicine
>> Cooper_m at kids.wustl.edu<mailto:Cooper_m at kids.wustl.edu>
>> Lab website: https://urldefense.proofpoint.com/v2/url?u=http-3A__research.peds.wustl.edu_Default.aspx-3Falias-3Dresearch.peds.wustl.edu_Labs_Cooper-5FM&d=DgIGaQ&c=Zoipt4Nmcnjorr_6TBHi1A&r=mERX_I8PKb0Uil9coedoT1CtvFqkSey45L0vbcX0oKI&m=p0bF-HJN5_so5edQKkTbLExoepDHZ4LdCR9lwI0_o6o&s=T2tFj7m9yjFL4v2QPbPUYChMemJbkOOltN-4w8rd7UQ&e= 
>> (lab office) 314-286-0262
>> (lab fax) 314-286-2895
>> 
>> 
>> 
>> 
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