[CIS PIDD] [cis-pidd] IFNgR1 defect and congenital heart disease

[CIS-PIDD]

Good afternoon!  I have been following a 5 year old with a full IFNgR1 defect (homozygous nonsense mutation) who came to us sick with disseminated MAC, is doing well now on lots of antibiotics and we were preparing him for bone marrow transplant.  We obtained a screening echocardiogram and he has a full AV canal defect.  I was surprised- has grown quite well despite the disseminated MAC, oxygen sats good as left to right shunt, no murmur, etc.  Anyway, this is delaying the transplant until we sort this out. But, we don’t know of an association between IFNgR1 defects and congenital heart disease and can’t think of why that would be.  Has anyone else seen this?  I think unrelated but thought I would ask.  The parents are not consanguineous but Mennonite so a smaller community, no known family history of congenital heart defects or IFNgR1 defects.
Thanks and Happy Thanksgiving!
Alexandra

—
Alexandra Freeman MD
Laboratory of Clinical Infectious Diseases
NIAID, NIH
NIH, Bldg 10,Room 12C103
9000 Rockville Pike
Bethesda, MD  20892
Phone 301-594-9045
Fax 301-496-0773
freemaal at mail.nih.gov<mailto:freemaal at mail.nih.gov>

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