Subject(s)
Anaphylaxis , Anaphylaxis/drug therapy , Anaphylaxis/etiology , Child , Epinephrine/therapeutic use , Humans , Self AdministrationABSTRACT
X-linked inhibitor of apoptosis protein (XIAP) deficiency results in monogenic inflammatory bowel disease. To date, no vasculitis associated with XIAP deficiency has been reported. A 10-year-old boy was diagnosed with Crohn's disease and he responded poorly to conventional treatment for Crohn's disease. He was dependent on corticosteroids and parenteral nutrition. To manage severe colitis, he underwent ileostomy followed by ileocolectomy for an ileo-sigmoid fistula. At the age of 15 years, he developed IgA vasculitis and at the age of 17 years, he developed refractory Takayasu arteritis (TAK), which was resistant to corticosteroid and immunosuppressive therapy. Whole-exome sequencing revealed a novel mutation of the splice acceptor site in XIAP (c.1057-1G > A) at the age of 19 years. Allogeneic hematopoietic stem cell transplantation was successful with subsequent withdrawal of intensive immunosuppressive therapy and clinical remission of both enterocolitis and TAK. This case suggests that patients with XIAP deficiency could develop intractable inflammatory disease involving the intestinal tract and blood vessels.
Subject(s)
Crohn Disease/genetics , Enterocolitis/genetics , Enterocolitis/therapy , Takayasu Arteritis/genetics , Takayasu Arteritis/therapy , X-Linked Inhibitor of Apoptosis Protein/genetics , Crohn Disease/therapy , Genetic Predisposition to Disease/genetics , Hematopoietic Stem Cell Transplantation , Humans , Ileum/pathology , Male , Young AdultABSTRACT
We studied 3 patients with systemic lupus erythematosus (SLE) who developed thyroid cancer (TC). Potential risk factors for TC development was explored. Fifty-three patients with a clinical diagnosis of rheumatic diseases including SLE at our hospital between July 2014 and December 2014 were enrolled. Demographic, clinical, and laboratory findings were retrospectively compared between TC-positive and TC-negative patients. Among rheumatic diseases, lymphadenopathy/splenomegaly at treatment commencement, and lymphadenopathy/splenomegaly, painless ulcer (oral, nasal, or mucosal), and weight loss during the entire study period were precipitating factors. Lower current values of hemoglobin and methylprednisolone pulse therapy favored TC development. In 29 SLE patients, lymphadenopathy/splenomegaly at treatment commencement, lymphadenopathy/splenomegaly and weight loss during the entire study period, urinary granular casts at treatment commencement, and a lower current value of hemoglobin predisposed patients to TC. Several risk factors of TC are present in pediatric SLE. Patients with SLE should be investigated vigorously for TC with ultrasound.
