[CIS-PAGID] CVID Risk for children

[Cunningham-Rundles, Charlotte]

I agree with Mary Ellen.


>From our data,


I use the figure 8% overall for immune deficiency but of those only 2% of
the group have CVID in any other member, the rest were IgA deficient.

Note the older literature that also says that the female is more likely  (4x
I think) to pass this on than the male with CVID.  Not something I can
address from our data, as we have more sibs with unaffected parents than any
other combination. 

As for TACI, the 50% rule does not really work as the majority have non
immune deficient family members ( one parent and sometimes a sib or child)
with the same mutation.


Charlotte Cunningham-Rundles, MD, PhD
Departments of Medicine and Pediatrics
The David S Gottesman Professor
The Immunology Institute
Mount Sinai School of Medicine
1425 Madison Avenue
New York, NY 10029
Phone: 212 659 9268
Fax: 212 987 5593
Email: Charlotte.Cunningham-Rundles at mssm.edu





> From: "Church, Joseph" <JChurch at chla.usc.edu>

> Reply-To: PAGID <pagid at list.clinimmsoc.org>

> Date: Mon, 7 May 2012 14:16:35 +0000

> To: PAGID <pagid at list.clinimmsoc.org>

> Subject: Re: [CIS-PAGID] CVID Risk for children

> 

> 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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