- databases for immunodeficiency-causing variations

   Variation registry for  CD45 deficiency

PTPRCbase mutation publications

[2007] [2004] [2002] [2001] [2000] [1997] [1995] [1993]

Search PubMed latest citations for PTPRC mutations


  • CD45 gene C77G mutation in haemophagocytic lymphohistiocytosis.
    Muralitharan S, Pathare A, Wali Y, Dennison D, Krishnamoorthy R
    Acta Haematol 2007(3): 160-1 [PubMed abstract].


  • Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis.
    Boxall S, McCormick J, Beverley P, Strobel S, De Filippi P, Dawes R, Klersy C, Clementi R, De Juli E, Ferster A, Wallace D, Aricò M, Danesino C, Tchilian E
    Pediatr Res 2004(3): 478-84 [PubMed abstract].


  • A novel mutation in PTPRC interferes with splicing and alters the structure of the human CD45 molecule.
    Jacobsen M, Hoffmann S, Cepok S, Stei S, Ziegler A, Sommer N, Hemmer B
    Immunogenetics 2002(3): 158-63 [PubMed abstract].


  • A deletion in the gene encoding the CD45 antigen in a patient with SCID.
    Tchilian EZ, Wallace DL, Wells RS, Flower DR, Morgan G, Beverley PC
    J Immunol 2001(2): 1308-13 [PubMed abstract].


  • Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease.
    Kung C, Pingel JT, Heikinheimo M, Klemola T, Varkila K, Yoo LI, Vuopala K, Poyhonen M, Uhari M, Rogers M, Speck SH, Chatila T, Thomas ML
    Nat Med 2000(3): 343-5 [PubMed abstract].


  • Severe combined immunodeficiency with abnormalities in expression of the common leucocyte antigen, CD45.
    Cale CM, Klein NJ, Novelli V, Veys P, Jones AM, Morgan G
    Arch Dis Child 1997(2): 163-4 [PubMed abstract].


  • A prospective study of CD45 isoform expression in haemophagocytic lymphohistiocytosis; an abnormal inherited immunophenotype in one family.
    Wagner R, Morgan G, Strobel S
    Clin Exp Immunol 1995(2): 216-20 [PubMed abstract].


  • Abnormal T-cell phenotype in familial erythrophagocytic lymphohistiocytosis.
    Bujan W, Schandene L, Ferster A, De Valck C, Goldman M, Sariban E
    Lancet 1993(8882): 1296 [PubMed abstract].