Patient 2:
A thirteen-year-old girl (born to consanguineous parents) was diagnosed
as leaky SCID due to Artemis mutation at 4 years, after multiple
hospitalizations due to recurrent fever, diarrhea and bronchitis. She
was referred to our centre for HSCT but unfortunately, she had
conglomerate cervical lymphadenopathies on the admission. Excisional
biopsy revealed marginal zone B cell lymphoma. She received 13 doses of
Rituximab treatment leading to remission. Since a matched donor was not
available in the family, she transplanted from an HLA 10/10 matched
unrelated donor (MUD) following an RIC regimen consisting of Rituximab
(375 mg/m2), Treosulfan (42g/m2),
Fludarabine (150mg/m2) and ATG (40mg/kg) at age of
fourteen. CSA and MMF were preferred for GvHD prophylaxis. On
post-transplant 21st day, severe diarrhea (1900
cc/day) and subsequently faecal occult blood occurred. A Grade IV GvHD
was revealed by endoscopic and colonoscopic biopsies. Methylprednisolone
(2mg/kg/day) and oral budesonide treatments were started. However,
diarrhea was persistent and didn’t respond to treatment, so CSA was
switched to tacrolimus, infusions(x3) of mesenchymal stem cells and
Tocilizumab (x1) were added to treatment respectively. Despite of all
these intensive treatments, diarrhea persisted, so we decided to use
AAT. After two doses of AAT, diarrhea started to resolve and the steroid
tapering schedule was started. During steroid taper, after five doses of
AAT, moderate transaminase elevation (AST: 241 IU/ml, ALT: 413 IU/ml)
was detected as a possible side effect of the drug. We discontinued the
treatment for a week until normal transaminase levels were achieved.
During this period, a flare-up in diarrhea occurred and necessitated an
additional dose of Tocilizumab. Subsequently, we completed AAT to 8
doses but even total 5 doses of Tocilizumab could resolve her GvHD on
the 130th day. (Table 2)