Abdul Rafay presented at 6 months of age with recurrent skin, GIT and respiratory tract infections. At one year of age, he developed wart like lesions on face which spread all over his body. His CBC showed high WBC with eosinophilia.
He had serum IgE level of >3000 IU/ml and biopsy of his skin lesion was suggestive of Molluscum contagiosum. His Genetic Studies done from Invitee Lab USA on 1st March 2021, confirmed Autosomal recessive DOCK8 deficiency (JOB Syndrome).
Abdul Rafay was seen at AFBMTC in March 2021. He was given IVIG for prevention of infections and IV Cidofovir along Cidofovir cream for Molluscum skin lesions. Eye specialist was also consulted due to palpebral lesions.
He was fully HLA matched with his elder sister Mariam and had no ABO mismatch and he underwent Bone marrow Transplant on 12-7-2021. For transplant Bu10FLU180TG5 conditioning protocol used.
Post-transplant period was unremarkable. Neutrophil engraftment was achieved on Day+13. The patient was discharged after her neutrophil recovery and was advised weekly follow up in OPD.