The ITGB2 immunomodulatory gene (CD18), enterocolitis, and Hirschsprung's disease

Clinical features of Hirschsprung's disease associated with Down syndrome: a 30-year retrospective nationwide survey in Japan

“…The incidence of preoperative enterocolitis and mortality in preoperative enterocolitis were higher in the HD associated with DS than those of all patients. Its pathogenesis appears to include impaired local defense mechanisms as well as a dysfunctional immune response in DS [7].…”

“…Individuals with DS display a 40-fold greater risk of HD than the general population of newborns implicating chromosome 21 in the etiology of HD [6]. In addition, HDassociated enterocolitis was more prominent in HD associated with DS [7], but the characteristics in this group are unclear.…”

Detection of leukocyte adhesion deficiency type 1 in an infant by high-throughput targeted exome sequencing

“…Even though flow cytometer (FCM) [4] provides a tool for its diagnosis, it is not available in many hospitals. Genetic analysis is an effective alternative for diagnosis [16] 8 [13] 9 [13] 10 [13] 11 [13] 12 [13] 13 [17] 14 [11] 15 [13] 16 [18] 17 [19] 18 [20] 19 [21] 20 [22] 21 [22] 22 [23] 23 [24] 24 [25] 25 [26] 26 [27] 27 [13] 28 [11] 29 [27] 30 [27] F [13] 32 [28] 33 [25] 34 [29] 35 [27] 36 [30] 37 [31] 38 [13] 39 [32] 40 [33] 41 [29] 42 [13] 43 [34] 44 [22] 45 [11] 46 [13] 47 [13] 48 [35] 49 [26] 50 [22] 51 [13] 52 [36] 53 [15] 54 [29] 55 …”

821 Altered Goblet Cell Differentiation and Surface Mucus Properties in Hirschsprung Disease

“…HAEC is an inflammatory colitis that causes distension, diarrhea, and fever and can lead to bacterial translocation, sepsis, and death. The pathogenesis of HAEC remains unknown although several theories have been proposed, including changes to epithelial barrier properties, mucus layer properties, innate immunity and colonic microbiota composition [3], [4], [5]. In patients with HSCR, enterocolitis occurs despite surgery to remove the aganglionic bowel, suggesting that the pathogenic mechanisms involved in HAEC extend beyond the region of aganglionosis.…”