[PAGID] Patient with lymphopenia

[Luigi Notarangelo]

Dear Jason:

Indeed, a very interesting patient.

While idiopathic CD4 lymphopenia would have to be considered, as already
mentioned by others, I agree with Dale Umetsu that any form of ³leaky SCID²
might result in a similar phenotype.
A few years ago, we reported on a family with JAK3 deficiency in which late
diagnoses were made based on warts and lymphopenia (Frucht et al, Genes and
Immunity, 2001; 2:422) in some, but not all, affected family members.
I agree with Melvin that functional assays would be important in a case like
yours. One way to overcome the issue of T cell lymphopenia would be to label
in vitro cells with CFSE prior to the culture and then follow specifically
proliferation of the T cells in response to PHA (and also to anti-CD3 alone
or with IL-2) by looking at dilution of CFSE gating on the CD3+ population.
You might even use this approach to investigate whether you have increased
cell death during the culture, by staining for annexin V.

Very interesting! Please, keep us updated!

Gigi


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





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