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

[CIS-PIDD]

Hi Megan,

I picked up a kid as well.  The kids was a preemie so had preemie issues (anemia, hydrocephalus from IVH, etc.).  Only infection issue was a submandibular abcess with heavy staph growth.  First screen was abnormal with TRECs of 2 with a repeat at 54 days of life with TRECs which were in the normal range.  Our patient had a single allele with the variant - c.724C>T.   We have followed his lymphocyte counts. We last checked at Day 80 of life and he is still T lymphopenic (1212 / uL) with a CD4 count of 977 and CD8 count of 217.  His immunoglobulins have been fine.  His vaccine responses at a year of life have been fine.  He is doing well - no transplant.   I know that one of Louise Markert's colleagues is collecting some data in this realm.

Dave
________________________________________
From: CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
Sent: Thursday, December 29, 2016 6:56 PM
To: CIS-PIDD
Subject: [cis-pidd] FOXN1 heterozygous phenotype?

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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