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Location of CD40L mutations in XHIM patients. The schematic representation of the cDNA sequence and of the domains of the CD40L molecule is according to Seyama et al. (17). IC, intracellular tail; TM, transmembrane domain; ECU, extracellular unique region; TNFH, tumor necrosis factor-homology domain. For each exon and domain, the starting nucleotide or amino acid residue number is indicated. Nonsense mutations are shown above the scheme, insertions (ins) and deletions (del) below.
