A normal heterozygote carrier for this mutation has been reported. Both patients described by us, had significantly impaired wound healing in addition to the other typical LAD1 clinical characteristics. Interestingly, this severe clinical manifestation resembles that of CD18 null mice. The latter was shown to suffer from spontaneous skin ulceration and chronic dermatitis with extensive facial and submandibular erosions, in addition to the typical LAD1 clinical findings. It can be concluded that the severe and identical clinical phenotype in both humans and mice is attributable to the complete absence of the CD18 protein. Therefore, restoring this protein and its function in LAD1 patients is of great importance. To date, the only curative treatment in such severe cases of LAD1 is allogeneic BMT,. However, alternative treatments are often required for patients who are waiting to undergo a BMT or when the procedure is not available. One of these alternatives may be the correction of the nonsense mutated dysfunctional CD18 protein by the gentamicin-induced readthrough mechanism. The identification of a clinically feasible method to suppress premature stop mutations within the CD18 gene might be of considerable benefit to patients with LAD1 as well as to those with other diseases caused by stop mutations. We sought to determine whether this mechanism is applicable to the specific nonsense mutation carried in the CD18 gene of two patients while they were awaiting BMT. Before treatment, the reported mutation resulted in undetectable CD18 protein levels in both patients’ cells, either because the putative truncated protein was completely missing or it was misfolded. Our results suggest that gentamicin treatment induced readthrough of the mutated gene, yielding a corrected full-length CD18. The fact that sequencing of both patients cDNA revealed the germline mutation suggests a post-translation gentamicin-induced correction and not a reversion of the mutated CD18 gene. This treatment did not, however, improve the clinical manifestation of the condition or the leukocyte adhesion and chemotaxis. Indeed, the gentamicininduced corrected full-length protein was either dysfunctional or mislocalized. The novel nonsense type of mutation that we found enabled us to test the proof of principle that interventions designed to read through premature stop mutations may at least partially reverse a clinical phenotype. Our study is important in light of the controversies BAY-60-7550 regarding the effect of gentamicin-induced readthrough that exists even in the same diseases,. In general, targets with the UGA stop codon, such as that displayed in our patients, showed a higher translational readthrough than those with other stop codon changes.