[CIS PIDD] [cis-pidd] CVID

Sat Jan 3 14:30:15 EST 2015

There is only one lab on the clinical genetic testing databases (GTR and
NextGxDx) which offer this- Fulgent:
https://www.nextgxdx.com/apps/search/#/compare?tC=%5B%22544390349a6e4eba85c6a3be00f1745c%22,%22f2c441e2f32d438c958da2f10021eacf%22,%227a5428ceeb8e4137bccaa2f100223c75%22%5D
http://www.ncbi.nlm.nih.gov/gtr/tests/516573/

The EuroGeneTest database doesn't appear to be working, so I'm not sure
about Europe (http://www.eurogentest.org/index.php?id=219). I would imagine
there are other labs which offer it but haven't listed on these databases.
It also appears to be on some haematologic malignancy panels, but you'd
want to check they are offering whole gene sequencing.

If your local lab uses the Trusight One kit, CTLA4 is also on that (I think
that is the kit that Fulgent use)-
http://www.illumina.com/content/dam/illumina-marketing/documents/products/gene_lists/gene_list_trusight_one.zip
.

Cheers,

Dylan
Clinical and Metabolic Genetics Fellow
South Australian Clinical Genetics Service

Dylan Mordaunt
Mobile: + 61 468 516 283
Email: d.a.mordaunt at gmail.com

On 4 January 2015 at 07:58, Shahlaee, Amir <ASHAHLAEE at gru.edu> wrote:

>  I would be interested in knowing where to send these labs as we have a
> patient with a similar presentation.
>
>  Amir Shahlaee
> GRU
>
> Sent from my iPhone
>
> On Jan 3, 2015, at 8:49 AM, "Jason Raasch" <jraasch at midwestimmunology.com>
> wrote:
>
>
> David, thanks for follow-up - its nice to know when things come together.
> From a practical standpoint, by what means did you discover the CTLA4 LOF
> mutation (your lab? commercial lab? research protocol collaboration?)
>
> -J
>
>
> Jason Raasch, MD
>
> Midwest Immunology Clinic
> 15700 37th Ave N, Ste 110
> Plymouth, MN 55446
>
> TEL: (763) 577-0008
> FAX: (763) 577-0192
>
>
>
>
>
>
>
> On 1/2/15 10:42 PM, David Buchbinder wrote:
>   Dear Colleagues,
>
> As a follow-up....  our patient was documented to have a heterozygous loss
> of function mutation in CTLA-4.   Thank you very much for all of the
> excellent suggestions !  It will make a huge difference to this patient and
> her family.  It would not have been possible without your suggestions and
> comments.
>
> Happy New Year!
>
> Dave
>
> David Buchbinder, MD
> Division of Hematology
> CHOC Children's Hospital
>
>
> >>> Seppänen Mikko<Mikko.Seppanen at hus.fi> 11/9/2014 10:41 PM >>>
> Hi David!
>
> I would first consider:
> (see recently published reports on all)
>
> CTLA4
> DADA2/CECR1
> LRBA
> and since eosinophils and IgM are not low, somewhat less likely
> STAT3 GOF, though would not exclude it altogether...(e.g. eye findings)
>
> Too many and varied candidates for functionals? WES?
>
> Monocytes and DCs low? (GATA2?)
>
> At age 13, with those cellular and Ig findings and clinical phenotype
> consisting of multiple extremely rare and usually not associated end organ
> findings, I would be extremely reluctant to name this a polygenic disorder,
>
> Hope this helps,
>
> Mikko Seppänen, Finland
>
>
>
> ________________________________________
> Lähettäjä: David Buchbinder [dbuchbinder at CHOC.ORG]
> Lähetetty: 10. marraskuuta 2014 8:03
> Vastaanottaja: CIS-PIDD
> Aihe: Re: [cis-pidd] CVID
>
> Dear Colleagues,
>
>
>
> I saw a 22 year old diagnosed with "CVID" that I thought I would ask for
> your thoughts on....
>
>
>
> She began to vision issues at 13 years of age and was diagnosed with
> papiledema bilaterally.  Imaging of her CNS was completed documenting "mass
> like" lesions with surround vasogenic edema.  Over the years these appear
> to have come and gone with responses to immunosuppressants.  These have
> been severe enough to require intubation, ICP monitoring, manitol, etc.
> Eventually, she underwent a brain biopsy that disclosed "CNS vasculitis".
> In terms of additional immunedysregulation, she also has a history of
> autoimmune cytopenias (AIHA, ITP, etc.).  Her chest CT also disclosed
> evidence of adenopathy (hilar, mediastinal) as well as some nodular
> infiltrates.  A wedge biopsy documented "folicular bronchiiolitis".  She
> also has a history of hypogammaglobulinemia with a low IgA (<7) and low IgG
> (210).  Her IgM is fine and her IgE is not elevated.  Vaccine titers are
> pending.  Her eosinophil counts have largely been normal (very rarely
> elevated).  She has been maintained on a variety of immunosuppressant drugs
> in the distant past (e.g. cytoxan, rituximab, corticosteroids, etc.).  She
> has demonstrated evolving lymphopenia as well with a CD3 absolute count of
> 304, CD4 absolute count of 190, CD8 absolute count of 86, NK absolute count
> of 33.  Mitogen testing is pending.  Testing for autoantbodies (e.g., ANCA,
> etc.) have always been negative.   We entertained the diagnosis of
> Churg-Strauss, but I thought I would see if anybody else has any other
> thoughts on the profound immunedysregulation in this patient.
>
>
>
> Thanks,
>
>
>
> Dave
>
>
>
> David Buchbinder, MD
>
> Division of Hematology
>
> CHOC Children's Hospital
>
> CHOCLX-MGSM made the following annotations
> ---------------------------------------------------------------------
> Sun Nov 09 2014 22:03:49
>
> This email message and any files transmitted are sent with confidentiality
> in mind and contain privileged or copyright information. You must not
> present this message to another party without gaining permission from the
> sender. If you are not the intended recipient you must not copy, distribute
> or use this email or the information contained in it for any purpose other
> than to notify Children's Hospital of Orange County. Any views expressed in
> this message are those of the sender, except where the sender specifically
> states them to be the views of Children's Hospital of Orange County. If you
> have received this message in error, please notify the sender immediately,
> and delete this email from your system. We do not guarantee that this
> material is free from viruses or any other defects although due care has
> been taken to minimize the risk.
>
> ---------------------------------------------------------------------
>
> ---
>
> The CIS-PIDD listserv is supported by:
>
> [http://www.clinimmsoc.org/UserFiles/image/cis-pidd-list-logo_v1.jpg]
> 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: mikko.seppanen at hus.fi<
> mailto:mikko.seppanen at hus.fi <mikko.seppanen at hus.fi>>.
> To unsubscribe click here:
> http://lm.clinimmsoc.org/u?id=183824751.2106f30c0050b88ca85ab6b5148641fa&n=T&l=cis-pidd&o=45720889
>
>
> ---
> 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: dbuchbinder at choc.org.
> To unsubscribe click here:
> http://lm.clinimmsoc.org/u?id=203702750.c3d55ad2b6251a0fac46018ae4977b01&n=T&l=cis-pidd&o=45720969
> or send a blank email to
> leave-45720969-203702750.c3d55ad2b6251a0fac46018ae4977b01 at lists.clinimmsoc.org
>
> ---
>
> 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 to join!
>
> You are currently subscribed to cis-pidd as: jraasch at midwestimmunology.com
> .
> To unsubscribe click here:
> http://lm.clinimmsoc.org/u?id=183824721.ffecac98ebae3cc3c3ba17e837b8e976&n=T&l=cis-pidd&o=45903321
>
> ---
>
> 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: ashahlaee at gru.edu.
> To unsubscribe click here:
> http://lm.clinimmsoc.org/u?id=204818163.abdd98375898edd3260d53cc68036fe7&n=T&l=cis-pidd&o=45904264
>
>  ---
>
> 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=45904979
>

---
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=45905266
or send a blank email to leave-45905266-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20150104/01e782ed/attachment-0001.html>