Badolato et al. (2012) studied a 17-year-old northern Italian girl with oculocutaneous albinism, nystagmus, and normal neurologic development who presented with ...
Badolato et al. (2012) studied a 17-year-old northern Italian girl with oculocutaneous albinism, nystagmus, and normal neurologic development who presented with recurrent cutaneous infections but without hemorrhagic episodes. Her medical history included a prolonged episode of fever with seizures at 6 years of age. At presentation, she had thrombocytopenia and leukopenia, with normal platelet aggregation. An increased proportion of both resting and IL2 (147680)-activated NK cells from the patient expressed CD107A (LAMP1; 153330) on the surface compared to controls, and patient NK cells also showed moderately increased cell surface expression of CD63 (155740). In addition, IL2-activated NK cells from the patient had decreased granulation, and both resting and activated NK cells showed reduced cytolytic activity compared to controls. Badolato et al. (2012) noted that the abnormal lysosomal markers on this patient's NK cells were similar to, but distinct from, those observed in patients with HPS2 (608233).
▼ Molecular Genetics
In a 17-year-old Italian girl with an HPS-like primary immunodeficiency syndrome, Badolato et al. (2012) performed whole-exome sequencing and identified homozygosity for the same Q78X mutation in the PLDN gene found by Cullinane et al. (2011) in a patient with HPS. No mutations were found in other immunodeficiency-associated genes. Sanger sequencing confirmed the Q78X PLDN mutation, which was also present in heterozygosity in her unaffected parents.
Cullinane et al. (2011) reported a child with an HPS-like syndrome and a homozygous Q78X mutation in the PLDN gene; however, this article was retracted based on the finding of the United States Office of Research Integrity that Andrew R. Culliane, Ph.D., 'falsified and/or fabricated the results in Figure 3C, by using the same gel images to represent expression of PLDN in fibroblasts and melanocytes.'