[PAGID] IPEX like 7 month old

[Jack Bleesing]

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

> 

> 

>