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A new case of Fas-associated death domain protein deficiency and update on treatment outcomes

2015; Elsevier BV; Volume: 136; Issue: 2 Linguagem: Inglês

10.1016/j.jaci.2015.02.002

1097-6825

Sinisa Savic, David Parry, Clive Carter, Colin A. Johnson, Clare V. Logan, Beatriz Morillo-Gutiérrez, Julian Thomas, Chris M. Bacon, Andrew J. Cant, Sophie Hambleton,

Genomics and Rare Diseases

We present a new case of Fas-associated death domain protein (FADD) deficiency1 (MIM 613759) in a 3-year-old girl of Pakistani descent. She was well until age 6 months, when she developed pneumococcal meningitis from which she recovered fully with antibiotic therapy. The family history was notable for the death of 2 male siblings from pneumococcal meningitis in infancy, while another female sibling had died at age 4 months from congenital cardiac abnormalities (Fig 1). Over the following 12 months, she had 2 further hospitalizations with fever, irritability, and drowsiness, on one occasion requiring intensive care owing to worsening encephalopathy and seizures.