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Abnormal lymph node morphology

MedGen UID:
852420
Concept ID:
C0149727
Anatomical Abnormality; Finding
Synonyms: Abnormal lymph node histology; Abnormality of the lymph nodes
 
HPO: HP:0002733

Definition

A structural lymph node abnormality. [from HPO]

Conditions with this feature

Leukocyte adhesion deficiency 3
MedGen UID:
411605
Concept ID:
C2748536
Disease or Syndrome
Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder characterized by LAD1 (116920)-like immune deficiency and Glanzmann thrombasthenia (GT; 273800)-like bleeding problems. LAD3 results from mutations in FERMT3, or KINDLIN3, which encodes an intracellular protein that interacts with beta-integrins in hematopoietic cells. In LAD3, the adhesive functions of integrins on both leukocytes and platelets are disrupted, most likely due to defects in activation-dependent alterations of surface integrins that enable high-avidity binding to ligands on target cells, a process termed 'inside-out signaling' (Svensson et al., 2009; Zimmerman, 2009). For a discussion of genetic heterogeneity of leukocyte adhesion deficiency, see 116920.
FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1)
MedGen UID:
855519
Concept ID:
C3890175
Finding

Professional guidelines

PubMed

Kareh AM, Xu KY
Mo Med 2020 Mar-Apr;117(2):143-148. PMID: 32308240Free PMC Article
Silvestri GA, Gonzalez AV, Jantz MA, Margolis ML, Gould MK, Tanoue LT, Harris LJ, Detterbeck FC
Chest 2013 May;143(5 Suppl):e211S-e250S. doi: 10.1378/chest.12-2355. PMID: 23649440
Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ
Orphanet J Rare Dis 2012 May 24;7 Suppl 1(Suppl 1):S6. doi: 10.1186/1750-1172-7-S1-S6. PMID: 22640403Free PMC Article

Recent clinical studies

Etiology

Kawaguchi S, Tamura N, Suzuki S, Nishikawa A, Shibata A, Tanaka K, Kobayashi Y, Ogura T, Sato J, Kinowaki K, Shiiba M, Ishihara M, Fujimori S, Kawabata H
Jpn J Clin Oncol 2023 Jun 29;53(7):562-571. doi: 10.1093/jjco/hyad032. PMID: 37057634
Gershman E, Amram Ikan A, Pertzov B, Rosengarten D, Kramer MR
Thorac Cancer 2022 Jun;13(11):1592-1596. Epub 2022 Apr 26 doi: 10.1111/1759-7714.14422. PMID: 35474417Free PMC Article
Rockson SG, Keeley V, Kilbreath S, Szuba A, Towers A
Nat Rev Dis Primers 2019 Mar 28;5(1):22. doi: 10.1038/s41572-019-0072-5. PMID: 30923312
Szalat R, Munshi NC
Hematol Oncol Clin North Am 2018 Feb;32(1):53-64. doi: 10.1016/j.hoc.2017.09.005. PMID: 29157619
Habermann TM, Steensma DP
Mayo Clin Proc 2000 Jul;75(7):723-32. doi: 10.4065/75.7.723. PMID: 10907389

Diagnosis

Gershman E, Amram Ikan A, Pertzov B, Rosengarten D, Kramer MR
Thorac Cancer 2022 Jun;13(11):1592-1596. Epub 2022 Apr 26 doi: 10.1111/1759-7714.14422. PMID: 35474417Free PMC Article
Kareh AM, Xu KY
Mo Med 2020 Mar-Apr;117(2):143-148. PMID: 32308240Free PMC Article
Xu ML, O'Malley D
Semin Diagn Pathol 2018 Jan;35(1):67-75. Epub 2017 Nov 15 doi: 10.1053/j.semdp.2017.11.004. PMID: 29173940
Szalat R, Munshi NC
Hematol Oncol Clin North Am 2018 Feb;32(1):53-64. doi: 10.1016/j.hoc.2017.09.005. PMID: 29157619
Habermann TM, Steensma DP
Mayo Clin Proc 2000 Jul;75(7):723-32. doi: 10.4065/75.7.723. PMID: 10907389

Therapy

Cascone T, Weissferdt A, Godoy MCB, William WN Jr, Leung CH, Lin HY, Basu S, Yadav SS, Pataer A, Mitchell KG, Khan MAW, Shi Y, Haymaker C, Solis LM, Parra ER, Kadara H, Wistuba II, Sharma P, Allison JP, Ajami NJ, Wargo JA, Jenq RR, Gibbons DL, Lee JJ, Swisher SG, Vaporciyan AA, Heymach JV, Sepesi B
Nat Commun 2021 Aug 19;12(1):5045. doi: 10.1038/s41467-021-25188-0. PMID: 34413300Free PMC Article
Rockson SG, Keeley V, Kilbreath S, Szuba A, Towers A
Nat Rev Dis Primers 2019 Mar 28;5(1):22. doi: 10.1038/s41572-019-0072-5. PMID: 30923312
Yuri T, Yamazaki F, Takasu K, Shikata N, Tsubura A
Pathol Int 2008 Jun;58(6):390-5. doi: 10.1111/j.1440-1827.2008.02241.x. PMID: 18477219
Rowley AH, Shulman ST
Clin Microbiol Rev 1998 Jul;11(3):405-14. doi: 10.1128/CMR.11.3.405. PMID: 9665974Free PMC Article
Schwinghammer TL, Howrie DL
Drug Intell Clin Pharm 1983 Jun;17(6):460-2. doi: 10.1177/106002808301700608. PMID: 6861635

Prognosis

Kawaguchi S, Tamura N, Suzuki S, Nishikawa A, Shibata A, Tanaka K, Kobayashi Y, Ogura T, Sato J, Kinowaki K, Shiiba M, Ishihara M, Fujimori S, Kawabata H
Jpn J Clin Oncol 2023 Jun 29;53(7):562-571. doi: 10.1093/jjco/hyad032. PMID: 37057634
Szalat R, Munshi NC
Hematol Oncol Clin North Am 2018 Feb;32(1):53-64. doi: 10.1016/j.hoc.2017.09.005. PMID: 29157619
Yuri T, Yamazaki F, Takasu K, Shikata N, Tsubura A
Pathol Int 2008 Jun;58(6):390-5. doi: 10.1111/j.1440-1827.2008.02241.x. PMID: 18477219
Cameron EW
Thorax 1978 Feb;33(1):117-20. doi: 10.1136/thx.33.1.117. PMID: 417418Free PMC Article
von Wowern N
Int J Oral Surg 1972;1(5):240-9. doi: 10.1016/s0300-9785(72)80043-7. PMID: 4199170

Clinical prediction guides

Kawaguchi S, Tamura N, Suzuki S, Nishikawa A, Shibata A, Tanaka K, Kobayashi Y, Ogura T, Sato J, Kinowaki K, Shiiba M, Ishihara M, Fujimori S, Kawabata H
Jpn J Clin Oncol 2023 Jun 29;53(7):562-571. doi: 10.1093/jjco/hyad032. PMID: 37057634
Tsuda E, Singhal M
Int J Rheum Dis 2018 Jan;21(1):56-63. Epub 2017 Nov 8 doi: 10.1111/1756-185X.13210. PMID: 29115035
Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ
Orphanet J Rare Dis 2012 May 24;7 Suppl 1(Suppl 1):S6. doi: 10.1186/1750-1172-7-S1-S6. PMID: 22640403Free PMC Article
Habermann TM, Steensma DP
Mayo Clin Proc 2000 Jul;75(7):723-32. doi: 10.4065/75.7.723. PMID: 10907389
Cameron EW
Thorax 1978 Feb;33(1):117-20. doi: 10.1136/thx.33.1.117. PMID: 417418Free PMC Article

Recent systematic reviews

Man V, Luk WP, Fung LH, Kwong A
Breast Cancer Res Treat 2022 Nov;196(2):245-254. Epub 2022 Sep 22 doi: 10.1007/s10549-022-06699-w. PMID: 36138294
Zhang X, Xie H, Luo M, Liang D, Lao W, Ma W, Lin Y
Artif Cells Nanomed Biotechnol 2020 Dec;48(1):875-884. doi: 10.1080/21691401.2020.1770776. PMID: 32460560
Yu M, Yongzhi H, Chen S, Luo X, Lin Y, Zhou Y, Jin H, Hou B, Deng Y, Tu L, Jian Z
Oncotarget 2017 Jun 27;8(26):43356-43367. doi: 10.18632/oncotarget.17445. PMID: 28498810Free PMC Article
Locke R, Comfort R, Kubba H
Int J Pediatr Otorhinolaryngol 2014 Mar;78(3):393-401. Epub 2013 Dec 18 doi: 10.1016/j.ijporl.2013.12.011. PMID: 24447684
Atwater AR, Longley BJ, Aughenbaugh WD
J Am Acad Dermatol 2008 Jul;59(1):130-6. Epub 2008 May 7 doi: 10.1016/j.jaad.2008.03.012. PMID: 18462833

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