Open AccessA novel mutant γc chain from a patient with typical phenotype of X‐linked severe combined immunodeficiency (SCID) has partial signalling function for mediating IL‐2 and IL‐4 receptor action
Author(s) -
KUMAKI S.,
OCHS H. D.,
KUROPATWINSKI K. K.,
KONNO T.,
TIMOUR M. S.,
COSMAN D.,
BAUMANN H.
Publication year - 1999
Publication title -
clinical & experimental immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.329
H-Index - 135
eISSN - 1365-2249
pISSN - 0009-9104
DOI - 10.1046/j.1365-2249.1999.00792.x
Subject(s) - phenotype , mutant , immunology , immunodeficiency , severe combined immunodeficiency , receptor , function (biology) , biology , gain of function , signal transduction , action (physics) , immune system , genetics , gene , physics , quantum mechanics
Mutations of the common γ (γc) chain result in X‐linked SCID (X‐SCID), which is characterized by the reduction in number or absence of peripheral blood T cells and natural killer (NK) cells, with retention of normal numbers of B cells. In the present study we describe a novel mutant γc chain of an X‐SCID patient with a typical X‐SCID phenotype. This mutant receptor subunit is able to associate with Jak3 to transduce a weak signal. The Jak3‐specific action is demonstrated by the induction of gene expression through the haematopoietin receptor response element (HRRE) by IL‐2 and IL‐4 in the experimental model of transiently transfected hepatoma cells over‐expressing Jak3. This result suggests that a threshold in the γc–Jak3 interaction determines the X‐SCID phenotype.