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T-lymphocyte differentiation and proliferation in the absence of the
cytoplasmic tail of the common cytokine receptor gamma c chain in a severe
combined immune deficiency X1 patient
E Morelon, A Dautry-Varsat, F Le Deist, S Hacein-Bay, A Fischer and G de Saint Basile
Unite de Biologie des Interactions Cellulaires, URA CNRS 1960, Institut
Pasteur, Paris, France.
Mutation of the gamma c chain common to interleukin-2 (IL-2), IL-4, IL- 7,
IL-9, and IL-15 receptors has been shown to be responsible for the X
chromosome-linked severe combined immune deficiency (SCIDX1). Human SCIDX1
patients are characterized by an absence of T and natural killer cell
differentiation. We report the case of a SCIDX1 patient who first had few
detectable peripheral T cells, then developed, after haploidentical
T-depleted bone marrow transplantation (BMT), up to 2,000/microL autologous
T cells. These T cells have persisted over 8 years after BMT and were able
to proliferate in the presence of mitogens and of some antigens, although
to a lesser extent than control T cells. A stop mutation was identified
which predicts that the major part of the cytoplasmic tail of gamma c is
truncated. This mutation does not affect high-affinity IL-2 binding, but it
partly decreases IL- 2 endocytosis and prevents the downmodulation of the
IL-2-receptor beta chain and the tyrosine phosphorylation of Jak 3 protein
in response to IL-2. This report raises questions concerning the role of
the gamma c chain in IL-2 receptor endocytosis and in T-cell development
and differentiation.
Volume 88,
Issue 5,
pp. 1708-1717,
09/01/1996
Copyright © 1996 by The American Society of Hematology
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