Chronic granulomatous disease caused by a deficiency in p47phox mimicking Crohn’s disease Jeannie S Huang, Deborah Noack, Julie Rae, Beverly A Ellis,

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Chronic granulomatous disease caused by a deficiency in p47phox mimicking Crohn’s disease Jeannie S Huang, Deborah Noack, Julie Rae, Beverly A Ellis, Robert Newbury, Alice L Pong, Joel E Lavine, John T Curnutte, John Bastian Clinical Gastroenterology and Hepatology Volume 2, Issue 8, Pages 690-695 (August 2004) DOI: 10.1016/S1542-3565(04)00292-7

Figure 1 Colonic biopsy specimen from the index case at her initial presentation showing chronic active inflammation with erosions and granulomas. Original magnification 100×. Clinical Gastroenterology and Hepatology 2004 2, 690-695DOI: (10.1016/S1542-3565(04)00292-7)

Figure 2 Colonic biopsy specimen from the index case after exposure to immunosuppressive agents showing the presence of yellow pigment-laden macrophages (arrows). Original magnification 600×. Clinical Gastroenterology and Hepatology 2004 2, 690-695DOI: (10.1016/S1542-3565(04)00292-7)

Figure 3 Absence of p47phox protein in the permeabilized neutrophils of the proband. (A) Undetectable levels of p47 in the proband, indicated by a fluorescence level with the anti-p47 antibody that is less than that of the immunoglobulin G1 isotype control. (B) Normal level of p47phox in neutrophils from the shipping control. Clinical Gastroenterology and Hepatology 2004 2, 690-695DOI: (10.1016/S1542-3565(04)00292-7)

Figure 4 Pedigree. Shaded symbols, persons homozygous for the p47phoxmutation; split-colored symbols, carriers of the p47phox mutation; unshaded symbols, unaffected persons. Clinical Gastroenterology and Hepatology 2004 2, 690-695DOI: (10.1016/S1542-3565(04)00292-7)