[CIS PIDD] [cis-pidd] CVID

Fri Jan 2 23:42:57 EST 2015

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

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