[CIS PIDD] [cis-pidd] Neutropenia and low interferon gamma production

[Dylan Mordaunt]

Dear Lynn,

Were there any other features such as developmental delay, liver
dysfunction or hypoglycemia?

Although relatively uncommon, many of the metabolic neutropenias can be
solved with urine organic and amino acids as well as urine purine and
pyrimidine profiling- both relatively inexpensive tests. Barth syndrome and
GSD1b are probably the more common metabolic neutropenias we encounter in
the metabolic clinic, although GSD1b requiring GCSF would be having
frequent low BSLs.

Interestingly, there are no disorders annotated with 'abnormalities of
interferon secretion' (HPO code HP:0011116) in the Mendelian Inheritance in
Man database (omim.org), presumably because this is predominantly edited by
geneticists rather than immunologists. It may also be that you are
observing a phenomenon in a known disorder, but which has not previously
been reported.

There are a few broad-based genetic testing options if you do not have a
short differential. There are two 'neutropenia' NGS panels I am aware of:
http://www.ncbi.nlm.nih.gov/gtr/tests/512562/ and
https://www.preventiongenetics.com/clinical-dna-testing/test/severe-congenital-neutropenia-sanger-sequencing-panel/476/
.

These panels are limited in terms of the number of genes but coverage (of
the individual genes) is likely to be good. Another option would be to
create a 'custom' panel with a lab like Fulgent (
fulgent-therapeutics.com/test/), cost is USD $1495. They perform a massive
panel/exome but perform a 'virtual panel' by only filtering for variants in
the gene of interest. You can add up to 20 genes with Fulgent (I think
GeneDx have a similar service), reflex to del/dup for another $500. You
would just need to be aware that gene coverage can be a limitation
depending on the genes of interest but if you found a pathogenic variant in
a recessive gene with poor coverage, could subsequently Sanger sequence the
remaining gene.

Kind regards,

Dylan

Dylan Mordaunt
Clinical and Metabolic Genetics Fellow
South Australian Clinical Genetics Service
Mobile: + 61 468 516 283
Email: d.a.mordaunt at gmail.com


On 4 September 2014 23:30, Wiens, Lynn A MD <lawiens at saintfrancis.com>
wrote:

>  I am taking care of a 2 yo male with idiopathic neutropenia doing well
> on Neupogen.  As part of his work-up, I obtained T-cell function and PHA
> did upregulate CD 69 but there was no interferon gamma production.  In vitro
> proliferation to tetanus toxoid, viral mixture, candida was low.
> Response to PWM; staph superantigen was normal.
>
> My question is what additional genetic testing is indicated in a boy doing
> well with neupogen; no additional infections since starting.
>
> Lynn A. Wiens, MD
>
> Warren Clinic
>
> 6160 South Yale Avenue  Tulsa, OK 74136
>
> Specializing in the care of Allergy, Asthma, Sinus disease, and Chronic
> Infections
>
> *http://tulsaallergynews.com* <http://tulsaallergynews.com>
>
> Office: 918-495-2636
>
> Cell: 918-550-1200
>
> [image: Picture (Device Independent Bitmap)]
>
>  ------------------------------
>
>
> Saint Francis Health System intends this email only for the use of the
> person to whom it is addressed and may contain information that is
> privileged, confidential, and exempt from disclosure under applicable law.
> If you have received this email in error, you are hereby notified that we
> do not consent to any reading, dissemination, distribution, or copying of
> this email and request you notify the sender immediately and destroy this
> transmission. Violators may be prosecuted under Federal law.
>
>  ---
>
> The CIS-PIDD listserv is supported by:
>
>
> *The science & practice of human immunology*
>
> P: +1.414.224.8095
> E: info at clinimmsoc.org
>
> Not a member of CIS? Please visit www.clinimmsoc.org
> <https://cis.execinc.com/edibo/Signup> to join!
>
> You are currently subscribed to cis-pidd as: d.a.mordaunt at gmail.com.
> To unsubscribe click here:
> http://lm.clinimmsoc.org/u?id=206815348.fc74bb74648fcfb6f69531d7c569a915&n=T&l=cis-pidd&o=45440581
>

---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=45443111
or send a blank email to leave-45443111-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/pipermail/pagid/attachments/20140905/b22b85d8/attachment-0001.html>
-------------- next part --------------
A non-text attachment was scrubbed...
Name: ole0.bmp
Type: image/bmp
Size: 27510 bytes
Desc: not available
URL: <http://seven.pairlist.net/pipermail/pagid/attachments/20140905/b22b85d8/attachment-0001.bin>