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Lymphocytic infiltration of the colorectal mucosa

MedGen UID:
1699735
Concept ID:
C5139201
Finding
HPO: HP:0032216

Definition

Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLymphocytic infiltration of the colorectal mucosa

Conditions with this feature

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
MedGen UID:
863651
Concept ID:
C4015214
Disease or Syndrome
Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation (IDAIL) is an autosomal dominant complex immune disorder with highly variable presentation and clinical manifestations. Prominent features include recurrent infections often associated with hypogammaglobulinemia, autoimmune features such as autoimmune cytopenias, and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. Laboratory studies often show lymphopenia and abnormal T and B cell subsets. The variable features are a result of impaired function of Treg cells, which play a role in immune homeostasis (summary by Kuehn et al., 2014; Schwab et al., 2018, and Lopez-Nevado et al., 2021). The disorder shows overlapping features with autoimmune lymphoproliferative syndrome (ALPS); for a general description and a discussion of genetic heterogeneity of ALPS, see 601859.

Recent clinical studies

Etiology

Simoni O, Scarpa M, Castagliuolo I, Stepanyan A, Angriman I, Kotsafti A, Nacci C, Scognamiglio F, Negro S, D'Angelo A, Chiminazzo V, Businello G, Ruffolo C, Salmaso R, Franzato B, Gruppo M, Pilati P, Scapinello A, Pozza A, Stecca T, Massani M, Cataldo I, Brignola S, Dei Tos AP, Ceccon C, Guzzardo V, Vignotto C, Facci L, Maretto I, Agostini M, Marchegiani F, Becherucci G, Zizzo M, Bordignon G, Merenda R, Pirozzolo G, Recordare A, Pozza G, Godina M, Mondi I, Verdi D, Lio CD, Laurino L, Saadeh L, Rivella G, Guerriero S, Romiti C, Portale G, Cipollari C, Spolverato YC, Noaro G, Cola R, Candioli S, Gavagna L, Ricagna F, Ortenzi M, Guerrieri M, Tagliente G, Tomassi M, Tedeschi U, Salmaso B, Buzzi G, Parini D, Prando D, Zuin M, Bergamo F, Zagonel V, Porzionato A, Cavallin F, Camillo BD, Cristoforo LD, Bao QR, Pucciarelli S, Bardini R, Spolverato G, Fassan M, Scarpa M; IMMUNOREACT Study Group
Cancer 2024 Jul 1;130(13):2272-2286. Epub 2024 Apr 22 doi: 10.1002/cncr.35297. PMID: 38644692
Li SY, Yang MQ, Liu YM, Sun MJ, Zhang HJ
World J Gastroenterol 2023 May 14;29(18):2836-2849. doi: 10.3748/wjg.v29.i18.2836. PMID: 37274065Free PMC Article
Ishibashi H, Nimura S, Hirai F, Harada N, Iwasaki H, Kawauchi S, Oshiro Y, Matsuyama A, Nakamura S, Takamatsu Y, Yonemasu H, Shimokama T, Takeshita M
Diagn Pathol 2020 Oct 21;15(1):128. doi: 10.1186/s13000-020-01044-5. PMID: 33087157Free PMC Article
Ruan H, Leibowitz BJ, Zhang L, Yu J
Mol Carcinog 2020 Jul;59(7):783-793. Epub 2020 Mar 25 doi: 10.1002/mc.23183. PMID: 32215970Free PMC Article
Formica V, Cereda V, Nardecchia A, Tesauro M, Roselli M
World J Gastroenterol 2014 Sep 21;20(35):12407-19. doi: 10.3748/wjg.v20.i35.12407. PMID: 25253941Free PMC Article

Diagnosis

Simoni O, Scarpa M, Castagliuolo I, Stepanyan A, Angriman I, Kotsafti A, Nacci C, Scognamiglio F, Negro S, D'Angelo A, Chiminazzo V, Businello G, Ruffolo C, Salmaso R, Franzato B, Gruppo M, Pilati P, Scapinello A, Pozza A, Stecca T, Massani M, Cataldo I, Brignola S, Dei Tos AP, Ceccon C, Guzzardo V, Vignotto C, Facci L, Maretto I, Agostini M, Marchegiani F, Becherucci G, Zizzo M, Bordignon G, Merenda R, Pirozzolo G, Recordare A, Pozza G, Godina M, Mondi I, Verdi D, Lio CD, Laurino L, Saadeh L, Rivella G, Guerriero S, Romiti C, Portale G, Cipollari C, Spolverato YC, Noaro G, Cola R, Candioli S, Gavagna L, Ricagna F, Ortenzi M, Guerrieri M, Tagliente G, Tomassi M, Tedeschi U, Salmaso B, Buzzi G, Parini D, Prando D, Zuin M, Bergamo F, Zagonel V, Porzionato A, Cavallin F, Camillo BD, Cristoforo LD, Bao QR, Pucciarelli S, Bardini R, Spolverato G, Fassan M, Scarpa M; IMMUNOREACT Study Group
Cancer 2024 Jul 1;130(13):2272-2286. Epub 2024 Apr 22 doi: 10.1002/cncr.35297. PMID: 38644692
Li SY, Yang MQ, Liu YM, Sun MJ, Zhang HJ
World J Gastroenterol 2023 May 14;29(18):2836-2849. doi: 10.3748/wjg.v29.i18.2836. PMID: 37274065Free PMC Article
Wallace K, El Nahas GJ, Bookhout C, Thaxton JE, Lewin DN, Nikolaishvili-Feinberg N, Cohen SM, Brazeal JG, Hill EG, Wu JD, Baron JA, Alekseyenko AV
Cancer Prev Res (Phila) 2021 Sep;14(9):885-892. Epub 2021 Aug 2 doi: 10.1158/1940-6207.CAPR-20-0592. PMID: 34341013Free PMC Article
Zadka Ł, Chabowski M, Grybowski D, Piotrowska A, Dzięgiel P
Cancer Immunol Immunother 2021 Sep;70(9):2681-2700. Epub 2021 Feb 24 doi: 10.1007/s00262-021-02863-1. PMID: 33625532Free PMC Article
Qian Q, Fan L, Liu W, Li J, Yue J, Wang M, Ke X, Yin Y, Chen Q, Jiang C
Clin Infect Dis 2021 Aug 2;73(3):361-366. doi: 10.1093/cid/ciaa925. PMID: 32638022Free PMC Article

Therapy

Simoni O, Scarpa M, Castagliuolo I, Stepanyan A, Angriman I, Kotsafti A, Nacci C, Scognamiglio F, Negro S, D'Angelo A, Chiminazzo V, Businello G, Ruffolo C, Salmaso R, Franzato B, Gruppo M, Pilati P, Scapinello A, Pozza A, Stecca T, Massani M, Cataldo I, Brignola S, Dei Tos AP, Ceccon C, Guzzardo V, Vignotto C, Facci L, Maretto I, Agostini M, Marchegiani F, Becherucci G, Zizzo M, Bordignon G, Merenda R, Pirozzolo G, Recordare A, Pozza G, Godina M, Mondi I, Verdi D, Lio CD, Laurino L, Saadeh L, Rivella G, Guerriero S, Romiti C, Portale G, Cipollari C, Spolverato YC, Noaro G, Cola R, Candioli S, Gavagna L, Ricagna F, Ortenzi M, Guerrieri M, Tagliente G, Tomassi M, Tedeschi U, Salmaso B, Buzzi G, Parini D, Prando D, Zuin M, Bergamo F, Zagonel V, Porzionato A, Cavallin F, Camillo BD, Cristoforo LD, Bao QR, Pucciarelli S, Bardini R, Spolverato G, Fassan M, Scarpa M; IMMUNOREACT Study Group
Cancer 2024 Jul 1;130(13):2272-2286. Epub 2024 Apr 22 doi: 10.1002/cncr.35297. PMID: 38644692
Bohaumilitzky L, Kluck K, Hüneburg R, Gallon R, Nattermann J, Kirchner M, Kristiansen G, Hommerding O, Pfuderer PL, Wagner L, Echterdiek F, Kösegi S, Müller N, Fischer K, Nelius N, Hartog B, Borthwick G, Busch E, Haag GM, Bläker H, Möslein G, von Knebel Doeberitz M, Seppälä TT, Ahtiainen M, Mecklin JP, Bishop DT, Burn J, Stenzinger A, Budczies J, Kloor M, Ahadova A
Gastroenterology 2022 Mar;162(3):907-919.e10. Epub 2021 Dec 2 doi: 10.1053/j.gastro.2021.11.029. PMID: 34863788
Sui H, Zhang L, Gu K, Chai N, Ji Q, Zhou L, Wang Y, Ren J, Yang L, Zhang B, Hu J, Li Q
Cell Commun Signal 2020 Jul 16;18(1):113. doi: 10.1186/s12964-020-00596-9. PMID: 32677955Free PMC Article
Ruan H, Leibowitz BJ, Zhang L, Yu J
Mol Carcinog 2020 Jul;59(7):783-793. Epub 2020 Mar 25 doi: 10.1002/mc.23183. PMID: 32215970Free PMC Article
Wittig BM, Zeitz M
Int J Colorectal Dis 2003 May;18(3):181-7. Epub 2002 Nov 5 doi: 10.1007/s00384-002-0444-1. PMID: 12673481

Prognosis

Li SY, Yang MQ, Liu YM, Sun MJ, Zhang HJ
World J Gastroenterol 2023 May 14;29(18):2836-2849. doi: 10.3748/wjg.v29.i18.2836. PMID: 37274065Free PMC Article
Lu Z, Cheng P, Huang F, Li J, Wang B, Zou S, Zheng Z, Peng C
J Pathol Clin Res 2023 Mar;9(2):121-128. Epub 2022 Nov 24 doi: 10.1002/cjp2.303. PMID: 36424637Free PMC Article
Zwing N, Failmezger H, Ooi CH, Hibar DP, Cañamero M, Gomes B, Gaire F, Korski K
Front Immunol 2020;11:550250. Epub 2020 Oct 29 doi: 10.3389/fimmu.2020.550250. PMID: 33193316Free PMC Article
Tauriello DVF, Palomo-Ponce S, Stork D, Berenguer-Llergo A, Badia-Ramentol J, Iglesias M, Sevillano M, Ibiza S, Cañellas A, Hernando-Momblona X, Byrom D, Matarin JA, Calon A, Rivas EI, Nebreda AR, Riera A, Attolini CS, Batlle E
Nature 2018 Feb 22;554(7693):538-543. Epub 2018 Feb 14 doi: 10.1038/nature25492. PMID: 29443964
Formica V, Cereda V, Nardecchia A, Tesauro M, Roselli M
World J Gastroenterol 2014 Sep 21;20(35):12407-19. doi: 10.3748/wjg.v20.i35.12407. PMID: 25253941Free PMC Article

Clinical prediction guides

Niccolai E, Russo E, Baldi S, Ricci F, Nannini G, Pedone M, Stingo FC, Taddei A, Ringressi MN, Bechi P, Mengoni A, Fani R, Bacci G, Fagorzi C, Chiellini C, Prisco D, Ramazzotti M, Amedei A
Front Immunol 2020;11:573158. Epub 2021 Jan 8 doi: 10.3389/fimmu.2020.573158. PMID: 33488574Free PMC Article
Zwing N, Failmezger H, Ooi CH, Hibar DP, Cañamero M, Gomes B, Gaire F, Korski K
Front Immunol 2020;11:550250. Epub 2020 Oct 29 doi: 10.3389/fimmu.2020.550250. PMID: 33193316Free PMC Article
Ishibashi H, Nimura S, Hirai F, Harada N, Iwasaki H, Kawauchi S, Oshiro Y, Matsuyama A, Nakamura S, Takamatsu Y, Yonemasu H, Shimokama T, Takeshita M
Diagn Pathol 2020 Oct 21;15(1):128. doi: 10.1186/s13000-020-01044-5. PMID: 33087157Free PMC Article
Tauriello DVF, Palomo-Ponce S, Stork D, Berenguer-Llergo A, Badia-Ramentol J, Iglesias M, Sevillano M, Ibiza S, Cañellas A, Hernando-Momblona X, Byrom D, Matarin JA, Calon A, Rivas EI, Nebreda AR, Riera A, Attolini CS, Batlle E
Nature 2018 Feb 22;554(7693):538-543. Epub 2018 Feb 14 doi: 10.1038/nature25492. PMID: 29443964
Maglietta A, Maglietta R, Staiano T, Bertoni R, Ancona N, Marra G, Resta L
PLoS One 2016;11(7):e0159373. Epub 2016 Jul 21 doi: 10.1371/journal.pone.0159373. PMID: 27441558Free PMC Article

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