An Inherited Disorder of Lymphocyte Apoptosis: The Autoimmune Lymphoproliferative Syndrome

Figure 4. The gray boxes covering exons 2 through 5 correspond to the extracellular cysteine-rich receptor domains ( ). The dark area of exon 9 is the cytoplasmic death-signaling domain. The localization and type of mutations in patients with the autoimmune lymphoproliferative syndrome are depicted above the exon drawing. The top line of symbols identifies the location of all published mutations from other research centers, including those in Italy ( ) and France ( ). The lower line of symbols depicts the mutations identified in National Institutes of Health patients. All of the mutations to date are single-nucleotide changes except for the 290-base pair ( ) homozygous deletion in exon 9 (Fr) found in a severely affected daughter of related parents . The region of the gene most often mutated is the intracellular death domain.
Figure 4. The gray boxes covering exons 2 through 5 correspond to the extracellular cysteine-rich receptor domains ( ). The dark area of exon 9 is the cytoplasmic death-signaling domain. The localization and type of mutations in patients with the autoimmune lymphoproliferative syndrome are depicted above the exon drawing. The top line of symbols identifies the location of all published mutations from other research centers, including those in Italy ( ) and France ( ). The lower line of symbols depicts the mutations identified in National Institutes of Health patients. All of the mutations to date are single-nucleotide changes except for the 290-base pair ( ) homozygous deletion in exon 9 (Fr) found in a severely affected daughter of related parents . The region of the gene most often mutated is the intracellular death domain. The organization of theAPT1gene encoding Fas (CD95) (shown as numbered boxes separated by slashed lines indicating the intron sequences).CRDsItFrbp(2)APT1

This Article

  1. Ann Intern Med April 6, 1999 vol. 130 no. 7 591-601
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