Mutations of JAK3 gene in four unrelated patients affected by autosomal SCID. (A and B) cDNA sequences of the two alleles of patient L.E. (C and D) cDNA sequences of the two alleles of patient L.P. (E and F ) Sequence of genomic DNA of patient N.K. (E) that creates a new splice site causing a 21-bp deletion in his cDNA sequence (F ). (G and H) Sequence of genomic DNA from patient V.L. showing a point mutation in the invariant dinucleotide of the acceptor site of the 9th intron (G), causing the use of a cryptic splice site 5 bp downstream of the normal one, with a consequent 5-bp deletion in the cDNA sequence (H). All exon sequences are in bold, whereas intron sequences in (G) are indicated in lower-case letters. The numbers refer to the JAK3 cDNA sequence as present in data base. w.t., wild-type. All the sequences are shown in the sense orientation, even when performed on the reverse strand.