Article
Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options.
Experimental hematology - 1 Sept 1999
Roesler J, Kofink B, Wendisch J, Heyden S, Paul D, Friedrich W, Casanova J L, Leupold W, Gahr M, Rösen-Wolff A
Abstract excerpt
We describe the history of a girl with interferon-gamma-receptor (IFNgammaR1) deficiency and studies performed to identify the molecular and clinical characteristics of this recently discovered disorder. This is the first report of a child from Northern Europe with IFNgammaR1 deficiency. The patient, now 7 years old, first presented with swelling and reddening at the Bacille Calmette-Guerin (BCG) vaccination...
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