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

[CIS-PIDD]

Hi Megan,
I have also seen a patient like this. Dad probably has the same mutation in the case of my patient as clinical history is suggestive. (He had h/o recurrent infections as an infant, sparse hair and dry/brittle nails. Mom noted that dad of baby still has soft nails).  Both dad and baby had hair and nail issues to some degree. Baby was identified as TREC zero on nbs, mitogens normal. I maintained on scig and prophy abx for a while, as we monitored T cells for about a year so far and T cells have come up over time albeit still lymphopenic. Growing and thriving. I discussed with Dr Markert at Duke and she has found some similar cases which are being written up. I would contact Dr Markert, perhaps adding to the cohort!
Elena

Sent from my iPhone

> On Dec 29, 2016, at 10:10 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> 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: http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M
> (lab office) 314-286-0262
> (lab fax) 314-286-2895
> 
> 
> 
> 
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