We present here a 7 year old male patient born to non consanguineous parents of English descent with an unremarkable family history. He presented at age 4 years old with oral thrush following antibiotic use. In addition, he developed fungal lesions on his face and lips, which were managed with fluconazole. He had several episodes of acute otitis media with one documented pneumonia. Genetic analysis confirmed a G > A substitution (c1154T) in STAT1 causing substitution of amino acid threonine to methionine (T385M). The mutation was determined to be de novo and not present in either parent. Two additional patients identified with the same mutation demonstrated a progressive combined immunodeficiency and died at ages 7 years old and 10 years old of overwhelming infections to CMV and EBV (Sharfe et al. 2014). Based on the apparent life threatening mutation, our patient was offered the option of restorative HSCT.
The patient received a 10/10 HLA matched sibling donor transplant. While engraftment was rapid and remains robust, the post transplant course was complicated largely by infections and graft versus host disease (GvHD).
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