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

[CIS-PIDD]

Currently at home untreated
We can compare findings offline next week
Happy New Year

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On: 29 December 2016 20:11, "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> wrote:

How did your case turn out?



No nail findings that I recall, although I have to say I may not have closely examined his nails (he is returning soon), and definitely didn't look at his parents nails.  I did see that relatives of those original patients had nail dystrophy with het variants.



Megan

________________________________
From: CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
Sent: Thursday, December 29, 2016 9:02 PM
To: CIS-PIDD
Cc: Abbott, Jordan
Subject: Re:[cis-pidd] FOXN1 heterozygous phenotype?

We have one picked up on newborn screen with similar findings
Any nail findings
Gelfande at njhealth.org





On: 29 December 2016 19:57, "CIS-PIDD" <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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