Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104144
Abstract: 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… read more here.
Keywords: necrotizing cellulitis; frameshift mutation; cellulitis; multi organ ... See more keywords
Severe Recurrent Necrotizing Myopathy in Pregnancy: A Case Report
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2018.01028
Abstract: Pregnancy in patients with necrotizing autoimmune myopathy without identified antibodies is rarely reported. We report a case involving a 26-year-old woman with antibody-negative autoimmune necrotizing myopathy who experienced a relapse during pregnancy. Before pregnancy, the… read more here.
Keywords: pregnancy; necrotizing myopathy; case; report ... See more keywords