[HTML][HTML] A novel NFkB1 mutation linking pyoderma gangrenosum and common variable immunodeficiency

Q Sun, JR Gehlhausen, M Freudzon, N Kibbi, A Bale… - JAAD Case Reports, 2021 - Elsevier
Q Sun, JR Gehlhausen, M Freudzon, N Kibbi, A Bale, K Choate, M Tomayko, I Odell
JAAD Case Reports, 2021Elsevier
Discussion The pathophysiology of PG is poorly understood, but increasing evidence
supports the role of genetics in PG pathogenesis. Most commonly associated with PSTPIP1,
MTHFR, and JAK2 mutations, PG typically presents in middle-aged women and rarely co-
occurs with immunodeficiency. 1, 2, 3, 4
Discussion
The pathophysiology of PG is poorly understood, but increasing evidence supports the role of genetics in PG pathogenesis. Most commonly associated with PSTPIP1, MTHFR, and JAK2 mutations, PG typically presents in middle-aged women and rarely co-occurs with immunodeficiency. 1, 2, 3, 4
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