[CIS PIDD] [cis-pidd] CD40L defect carrier detection

Wed Jun 15 09:43:22 EDT 2016

HI All

I would echo the thought that targeted genetic testing would be the preferred method and that in the absence of symptoms in the sister, would probably discuss the risks/benefits of early genetic testing with the family and give them option to either return later for genetic testing or involve a genetic counselor.

I also wanted to remind everyone that the CIS Advocacy Committee is currently working to develop a position paper on the use and potential barriers to genetic testing, part of that paper will include the membership's responses to the survey that was emailed on 6/6/2016.  The CIS Advocacy Committee along with the Immune Deficiency Foundation (IDF)  compiled a survey to gauge the current status of insurance based challenges which hinder our ability to diagnose, manage consistently and treat primary immunodeficiency patients.

If you did not yet have the chance, please complete the survey, or if you need it resent please let me know and I will help get it to you!

Thanks

Jen

Jennifer Heimall, MD
The Children's Hospital of Philadelphia
Allergy/Immunology Attending Physician
Medical Director Day Medicine
Clinical Assistant Professor of Pediatrics
Perelman School of Medicine

3550 Market Street
3rd Floor
Philadelphia, PA 19104
215-590-2549 (p)
215-590-4529 (f)
________________________________
From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Sent: Wednesday, June 15, 2016 8:44 AM
To: CIS-PIDD
Subject: Re: [cis-pidd] CD40L defect carrier detection

Hi Richard,

Much in the same vein as Sergio, I would definitely choose genetic testing. One needs to know the mutation (roger that in your patient's case) and preferrably to have a mut positive relative as control.

However, genetic councelling is indeed an issue. I would wait until she is ready to receive information (with potential childbearing in mind) and not burden/bother her earlier (... unless she develops symptoms suggesting skewed X inactivation - a rare event in CD40LG - AFAIK).

Personally, I would remit her  to a geneticist for genetic counselling. This approach would mean informing parents to make sure she is reminded of the issue later and then it'll be her very own choice.

My guess is that these were issues as well on which you wanted to invoke discussion?

What do our colleagues generally prefer (outside scientific work, in the clinic)?

ATB,

Mikko

Oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE)

Head, Rare Disease Center,
Helsinki University Hospital (HUH)
FINLAND

phone +358 947180201
GSM +358 50 4279606
fax +358 9 47174703

CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> kirjoitti 15.6.2016 kello 15.10:

Hi Richard,
Knowing the exact familial mutation, and having future genetic counseling in mind, makes it difficult settle for anything else than targeted genetic testing. All other tests will still leave room for errors: sister can be lyonized towards the WT allele (up to 10% of women are for not known reasons) and you would only be detecting the “healthy” cells by flow. On the other hand, is the mom a carrier? Even if she is negative (because of de novo mutation in her son, germinal mosaicism, etc) I’d still test the daughter. In terms of when to test the daughter for carrier status…that’s a different issue.
Sergio

Immunology Service, DLM, CC, NIH
srosenzweig at cc.nih.gov<mailto:srosenzweig at cc.nih.gov>

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From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Tuesday, June 14, 2016 at 9:52 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: [cis-pidd] CD40L defect carrier detection

I follow a young boy with HIGM with the following mutation: g3715C>A in Exon 2 (Genbank EF064753) of CD10L. He now has a new sister. What is the easiest way to test her for carrier status?
Thanks,
Richard Wasserman

--
Richard L. Wasserman, MD, PhD
Allergy Partners of North Texas
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211

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