[PAGID] T+B+ SCID

[Feske, Stefan]

The Feske lab at New York University Medical Center is looking for access to patients with (i) unexplained forms of T+B+ SCID with defects in T cell activation or (ii) patients with unexplained defects in T cell development for molecular analysis. Our particular interest is in patients with functional defects in CRAC calcium channels related to the genes ORAI1, ORAI2 and ORAI3 and STIM1, STIM2. We recently identified mutations in the novel calcium channel genes ORAI1 (Feske et al. Nature 2006; 441:179-85) and STIM1 (Picard et al. N Engl J Med. 2009 360:1971-80) in patients with T+B+ SCID.

Since we do not see these patients at NYU Medical Center, I would be interested to receive patient materials for molecular study in my lab in collaboration with clinical investigators in the Americas. Symptoms in these patients may include recurrent, opportunistic infections, muscular hypotonia, ectodermal dysplasia with anhydrosis (EDA) and dental enamel defects. Patients may also have additional symptoms or lack EDA / myopathy. T and B cell numbers in these patients are normal.

If you see these SCID patients and are interested in collaborating with us, please contact:

Stefan Feske, MD
Assistant Professor
New York University Medical Center
Department of Pathology & Cancer Institute
SRB 316, 550 First Ave.
New York, NY 10016

E-mail: feskes01 at nyumc.org
Phone: +1-212-263-9066


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