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Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation

Bergbreiter, Astrid ; Jaeger, Teresa ; Karle, Antje ; Bitzinger, Diane ; Ettl, Tobias ; Spanier, Gerrit ; Jägle, Herbert ; Neu, Reiner ; Söder, Yorick ; Evert, Matthias ; Reichert, Torsten E. ; Berneburg, Mark ; Brochhausen, Christoph ; Schreml, Julia ; Fliegauf, Manfred ; Salzer, Ulrich ; Redel, Andreas ; Schreml, Stephan


Background: Mutations in NFKB1(nuclear factor of kappa light polypeptide gene enhancer in B-cells 1) are associated with a variety of clinical symptoms, including lymphadenopathy, splenomegaly, hepatomegaly, autoimmune haemolytic anaemia, arthralgia, recurrent respiratory tract infections and post-operative necrotizing cellulitis. Case presentation: We describe a case of a 47-year-old man, who ...


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