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. Author manuscript; available in PMC: 2023 Apr 1.
Published in final edited form as: Clin Gastroenterol Hepatol. 2021 Mar 18;20(4):e653–e663. doi: 10.1016/j.cgh.2021.03.021

Figure 3. Number of extraintestinal comorbidities across monogenic IBD cases.

Figure 3.

(A) Number of EICs in all monogenic IBD cases, where reported (red highlights show GI complications of perianal disease and oral ulcers). Autoimmunity includes autoimmune hepatitis, arthritis, arthralgia, type 1 diabetes mellitus, hypothyroiditis, psoriasis, autoimmune hemolytic anemia, autoimmune neutropenia, immune thrombocytopenic purpura, uveitis, primary sclerosing cholangitis, vasculitis, autoimmune pancreatitis, autoimmune growth hormone deficiency, glomerular nephropathy, nephrotic syndrome and autoimmune lymphoproliferative syndrome. Chronic lung disease includes interstitial lung disease, bronchiectasis, and pulmonary fibrosis. Perianal disease includes fistula, abscess, rectovaginal fistula and ulcer (not including fissure or skin tags).

(B) Number of monogenic IBD cases with HLH/MAS by causative genes. HLH, hemophagocytic lymphohistiocytosis; MAS, macrophage activation syndrome.

(C) Number of monogenic IBD cases associated with malignancy by causative genes. LCH, Langerhans cell histiocytosis; AC, adenocarcinoma.