title: The skin in severe combined immunodeficiency: a case with transient cutaneous presence of gamma/delta (TRC1+) T cells.
abstract: We report the case of a boy with severe combined immunodeficiency (SCID) and serious skin problems. The level of purine 5'-nucleotidase was greatly reduced in the lymphocytes of this patient. To our knowledge, no patients with SCID and this enzyme deficiency have been described previously. The relationship between reduced levels of this enzyme and the immunodeficiency is unclear. This case is also unusual because of the presence of large numbers of T lymphocytes expressing TCR1 (gamma/delta) in the skin. Moreover, the presence of so many TCR1-positive cells was not consistent with the low numbers of these cells in the peripheral blood. These cells were not present in skin biopsies taken at a later stage during the course of the disease. An oligoclonal lymphocytosis developed during follow-up, and a monoclonal antibody reactive with these clones was found, indicating that these lymphocytes were present in the skin. This case report illustrates the benefit of the use of monoclonal antibodies in identifying the cells involved in the cutaneous inflammation in SCID, in order to gain a better insight into the characteristics of these cells.
authors.affiliation: Department of Dermatology, University of Amsterdam, The Netherlands.
authors.forename: J H
authors.initials: JH
authors.lastname: Sillevis Smitt
authors.forename: R S
authors.initials: RS
authors.lastname: Weening
authors.forename: S R
authors.initials: SR
authors.lastname: Krieg
authors.forename: J D
authors.initials: JD
authors.lastname: Bos
mesh_terms: D000911:Antibodies, Monoclonal; D006801:Humans; D007124:Immunoenzyme Techniques; D016130:Immunophenotyping / Q000379:methods; D007223:Infant; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D009708:Nucleotidases / Q000032:analysis; D016692:Receptors, Antigen, T-Cell, gamma-delta / Q000276:immunology*; D016511:Severe Combined Immunodeficiency / Q000201:enzymology / Q000276:immunology*; D012867:Skin / Q000201:enzymology / Q000276:immunology*; D013601:T-Lymphocytes / Q000276:immunology*
chemical_list: D000911:Antibodies, Monoclonal; D016692:Receptors, Antigen, T-Cell, gamma-delta; D009708:Nucleotidases; C029296:purine 5'-nucleotidase