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T Cell Subsets and T Cell Function in Cartilage‐Hair Hypoplasia
Author(s) -
KOOIJMAN R.,
VAN DER BURGT C. J. A. M.,
WEEMAES C. M. R.,
HARALDSSON A.,
SCHOLTENS E. J.,
ZEGERS B. J. M.
Publication year - 1997
Publication title -
scandinavian journal of immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.934
H-Index - 88
eISSN - 1365-3083
pISSN - 0300-9475
DOI - 10.1046/j.1365-3083.1997.d01-112.x
Subject(s) - phytohaemagglutinin , hypoplasia , in vitro , cartilage , biology , t cell , immunodeficiency , immune system , il 2 receptor , immunology , endocrinology , medicine , anatomy , genetics
Cartilage hair hypoplasia is a rare autosomal recessive form of short‐limbed dwarfism associated with a cellular immunodeficiency. In eight patients, the authors studied the presence of T cell subsets and in vitro T cell function in order to address the basis for the immunological disorder. Both the proliferative response to phytohaemagglutinin (PHA) and the PHA‐induced IL2 production were 60% lower compared with controls ( P = 0.007 and 0.005, respectively). The impaired proliferative response could not be restored by addition of IL‐2. This result is in accordance with a decrease in the percentage of activated T cells expressing the p 55 subunit of the IL‐2 receptor complex (CD25). The results define more precisely that T cells from cartilage hair hypoplasia patients are defective in the transition from the G 0 to the G 1 phase of the cell cycle. Furthermore, the data demonstrate that several CHH patients show a reduced proportion of CD45RA + ‘naive’ T cells. However, the in vitro impairment of T cell function cannot solely be explained by imbalance between ‘naive’ and ‘memory’ T cells. Although CHH patients with a history of recurrent respiratory tract infections showed the most aberrant in vitro immune parameters, a clear relationship between clinical data and in vitro parameters could not be established for the whole patient group.