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  • A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterised by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhoea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.
  • A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterized by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.
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