Leukocyte adhesion deficiency type 1 (LAD-1) is an autosomal recessive disorder, caused by the absence or reduced expression of the beta-2
integrins on granulocytes, and characterized by the inability of these cells to emigrate from the bloodstream towards the sites of tissue
inflammation. A twelve-year-old girl with a diagnosis of LAD-1 syndrome and recurrent skin and mucosal
infections since birth, presented with a two week history of
fever,
abdominal pain,
vomiting,
weight loss and
polyarthralgia. She underwent an exploratory
laparotomy with the finding of inflamed terminal ileum and colon and a normal appendix. Colonoscopy and videocapsule endoscopy showed multiple ileal and colonic mucosal ulcerations, which were compatible with
inflammatory bowel disease, confirmed on histological examination. Given the lack of response to conventional
therapy (
prednisone and
mesalamine), a monoclonal anti-TNF-α antibody was started at a dosage of 5 mg/kg at weeks 0,2,4,6 and then every 8 weeks. We observed a significant improvement of all clinical and laboratory parameters after the first weeks of
therapy. Five months later, we anticipated the
drug's administration every 5 weeks because of a precocious recurrence of symptoms. After 30 months of treatment no relapse nor any relevant side effects have been observed, and
corticosteroids were withdrawn. Interestingly, our patient presented a small subset of CD18+ T cells, similarly to previously reported LAD-1 patients with mild phenotype,
inflammatory bowel disease and CD18+ somatic revertant T cells. To the best of our knowledge, this is the first LAD-1 pediatric patient with inflammatory autoimmune complications who experienced a positive response to anti-TNF-α treatment.