[CIS-PAGID] CVID Risk for children

[Church, Joseph]

I thank you all for the very useful information.  JC

-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Conley, Mary Ellen
Sent: Monday, May 07, 2012 7:11 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS-PAGID] CVID Risk for children

I use the same figure as Bodo - 10% but I come at it from a slightly different perspective.  Like Bodo, I consider the percentage of patients with CVID who have affected family members.  But some of that 10% is not really CVID - it may be IgA deficiency or abnormal serum immunoglobulins that are detected because of family studies rather than repeated or unusual infections.  It may be autoimmune disease.  I also have a gut feeling, but no data, that with the sickest patients, the risk may be a little higher.

Mary Ellen Conley, MD
West Research Tower
LeBonheur Children's Hospital
50 N. Dunlap St.
Memphis TN  38103-2800
Tel     901-287-4657
FAX  901-287-4551
mconley at uthsc.edu<mailto:mconley at uthsc.edu>

-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Grimbacher, Bodo
Sent: Saturday, May 05, 2012 4:34 PM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS-PAGID] CVID Risk for children

I tell my patients 10%.
Why?
A maximum of 10-20% of CVID patients are familial (10% in AD families, and suspected additional 10% with new mutations).
So assuming 20% of CVID patients have a Mendelian form of CVID, and most of them seem to be autosomal-dominant, I In AD traits the risk of any offspring is 50%.
therefore arrive at an overall risk of 10% for an offspring of newly diagnosed CVID patients.
Yours,
Bodo Grimbacher
CCI- Centre of Chronic Immunodeficiency
Freiburg, GERMANY


Am 05.05.12 01:27 schrieb "Church, Joseph" unter <JChurch at chla.usc.edu>:


>Colleagues:

> 

>I just consulted on a 34yo man with probable CVID.  He and his wife 

>have no other medical issues.

> 

>They asked "what is the liklihood that their children (yet to be

>conceived) will develop CVID?".

> 

>I would appreciate any insight (?data) you may have.

> 

>Thank you.

> 

>Joe Church

>Children's Hospital Los Angeles

>

>

>

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