[PAGID] IPEX like 7 month old
Jack Bleesing
Jack.Bleesing at cchmc.org
Thu Jan 10 14:02:48 EST 2008
True. Hopefully I have an abstract ready for ESID, showing FOXP3 data in DGS/[S]CID.
JB
>>> "Luigi Notarangelo" <luigi.notarangelo at childrens.harvard.edu> 1/10/2008 1:58 PM >>>
Jack,
You are probably right, however I think there are still too few data in this
regard.
However, one important point is that also for nTRegs one should probably
look at absolute numbers. I am currently studying a mouse model of
hypomorphic lig4 deficiency, in which thymic output is obviously severely
reduced, but the ability to generate Foxp3+ T cells in the thymus is spared,
if measured as a fraction of CD4 SP thymocytes (but is markedly reduced if
absolute numbers are considered). However, as I said, I don't think there
are enough data (neither in mice or in humans) there to support the number
of Foxp3+ T cells as a measure of thymic output.
Luigi D. Notarangelo
On 1/10/08 1:41 PM, "Jack Bleesing" <Jack.Bleesing at cchmc.org> wrote:
> Luigi:
>
> In that list, wouldn't FOXP3+ T-cells belong as well, as a marker of thymic
> function (at least in our patient population with abnormal thymic production,
> whether through a stem cell defect or thymus defect?
>
> We find few if any FOXP3+ T-cells (and one has to look at absolute numbers,
> not percentage of CD4+ or CD4/CD25, etc).
>
> Happy new year to all!
>
> JB
>
> ---------------------------------------------------------------------------
> Jack J.H. Bleesing, M.D., Ph.D.
> Cincinnati Children's Hospital Medical Center
> Division of Hematology/Oncology
> 3333 Burnet Avenue, MLC 7015
> Cincinnati, OH 45229
> 513-636-4266 (phone)
> 513-636-3549 (fax)
> Jack.Bleesing at CCHMC.org
> http://www.cincinnatichildrens.org/immunodeficiencies/
>
>
>>>> "Luigi Notarangelo" <luigi.notarangelo at childrens.harvard.edu> 1/10/2008
>>>> 1:36:30 PM >>>
> I agree. Functional studies are very important. It is now clear that Omenn
> syndrome is truly a syndrome, and there are more and more cases repoertd who
> retain B cells. Thus, I would not disregard at all this possibility. I would
> suggest that you look not only at PHA response (which is obviously defective
> in SCID with maternal engraftment, but can occasionally be normal in Omenn
> syndrome), but also at proliferation to anti-CD3 (more consistently affected
> in patients with Omenn).
> I would also strongly suggest to look at the following:
>
> A) CD45RA vs CD45R0 on T cells
> B) TRECs
> C) T cell repertoire either by FACS (looking at expresed TCRBV families) or
> by spectratyping looking at CDR3 length
>
> These assays should clarify the possible diagnosis of SCID or Omenn.
>
> Luigi D. Notarangelo
>
>
> Luigi D. Notarangelo, M.D.
> Director, Research and Molecular Diagnosis Program on Primary
> Immunodeficiencies
> Division of Immunology, Children's Hospital
> Professor of Pediatrics and Pathology, Harvard Medical School
> Karp Building, 9th floor, Rm 09210
> 1 Blackfan Circle
> Boston, MA 02115
> USA
>
> (tel) (617)-919-2276
> (fax) (617)-730-0709
>
>
> Secretary: Luisa Raleza
> email: luisa.raleza at childrens.harvard.edu
>
>
>
>
> On 1/10/08 11:51 AM, "kumar036 at umn.edu" <kumar036 at umn.edu> wrote:
>
>> Dear Friends,
>>
>> I am looking for help with a 8 month boy who has severe eczema, failure to
>> thrive and significant eosinophilia. His total white count is 25-30 with
>> 25% eos, giving him an absolute eosinophil count of 7000. He has widespread
>> eczema which on biopsy showed infiltration with eos and lymphocytes. Total
>> B, T and NK numbers are in the normal range with a CD4 to 8 ratio of 6. IgG
>> of 200, and IgE of 70. IgA and IgM are normal (31). He has had watery
>> diarrhea since birth, weighs only 5 Kg (at 8 months), no diabetes or
>> thyroid dysfunction. Given this picture, I suspected IPEX even though he
>> has no endocrinopathy, but his FOXP3+ CD4s are normal in number.
>>
>> Where do I go next with this picture? There is no positive family history.
>> I am waiting maternal engraftmetn studies, in case this is SCID or Omenn
>> with maternal engraftment. I also just found that his CH50 is 0, with
>> normal C3 and C4 levels. I am going to repeat the CH50 and get C2 and C5
>> levels. There are few papers from the 70s describing Leiner's disease with
>> C5 deficiency that causes eczema and failure to thrive. His hair looks
>> normal and he doesn't have any teeth yet. He does not look dysmorphic and
>> hasn't had any infections besides a couple URIs.
>>
>> Ashish Kumar
>> University of Minnesota
>>
>>
>>
>
>
>
>
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