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Neutrophil Actin Defect

MedGen UID:
406938
Concept ID:
C1882075
Disease or Syndrome

Definition

A genetic disorder characterized by defective polymorphonuclear cell actin function, resulting in impaired granulocyte motility. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeutrophil Actin Defect

Professional guidelines

PubMed

Chinen J, Cowan MJ
J Allergy Clin Immunol 2018 Oct;142(4):1041-1051. Epub 2018 Aug 29 doi: 10.1016/j.jaci.2018.08.016. PMID: 30170128Free PMC Article

Recent clinical studies

Etiology

Liu L, Wen Y, Chen L, Li M, Yu J, Tian W, Wu Y, Guo S
Stem Cell Res Ther 2024 Aug 26;15(1):270. doi: 10.1186/s13287-024-03882-2. PMID: 39183362Free PMC Article
Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Seppänen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689Free PMC Article
McKinney C, Ellison M, Briones NJ, Baroffio A, Murphy J, Tran AD, Reisz JA, D'Alessandro A, Ambruso DR
Blood Adv 2020 Dec 8;4(23):5888-5901. doi: 10.1182/bloodadvances.2020002225. PMID: 33259599Free PMC Article
Lavigne LM, Albina JE, Reichner JS
J Immunol 2006 Dec 15;177(12):8667-75. doi: 10.4049/jimmunol.177.12.8667. PMID: 17142767
Merry C, Puri P, Reen DJ
J Pediatr Surg 1996 Apr;31(4):481-5. doi: 10.1016/s0022-3468(96)90479-0. PMID: 8801296

Diagnosis

Xu X, Wen X, Moosa A, Bhimani S, Jin T
Proc Natl Acad Sci U S A 2021 Oct 26;118(43) doi: 10.1073/pnas.2002162118. PMID: 34675073Free PMC Article
Dinauer MC
Methods Mol Biol 2020;2087:11-29. doi: 10.1007/978-1-0716-0154-9_2. PMID: 31728980
Dinauer MC
Methods Mol Biol 2014;1124:501-15. doi: 10.1007/978-1-62703-845-4_30. PMID: 24504971
Geering B, Stoeckle C, Rozman S, Oberson K, Benarafa C, Simon HU
J Leukoc Biol 2014 Feb;95(2):293-303. Epub 2013 Oct 25 doi: 10.1189/jlb.0813462. PMID: 24163421
van der Valk P, Herman CJ
Lab Invest 1987 Feb;56(2):127-37. PMID: 3543488

Therapy

Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Seppänen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689Free PMC Article
McKinney C, Ellison M, Briones NJ, Baroffio A, Murphy J, Tran AD, Reisz JA, D'Alessandro A, Ambruso DR
Blood Adv 2020 Dec 8;4(23):5888-5901. doi: 10.1182/bloodadvances.2020002225. PMID: 33259599Free PMC Article
Coates TD, Torkildson JC, Torres M, Church JA, Howard TH
Blood 1991 Sep 1;78(5):1338-46. PMID: 1878595
Colosio C, Tomasini M, Cairoli S, Foà V, Minoia C, Marinovich M, Galli CL
Br J Ind Med 1991 Feb;48(2):136-9. doi: 10.1136/oem.48.2.136. PMID: 1825604Free PMC Article
Becker EL
Arch Pathol Lab Med 1977 Oct;101(10):509-13. PMID: 199132

Prognosis

Invernizzi R, Grasso D, Travaglino E, Benatti C, Collovà E, Manzoni M, Livraghi L, Danova M, Riccardi A
Oncology 2008;75(3-4):237-44. Epub 2008 Oct 15 doi: 10.1159/000164588. PMID: 18854646
Bertagnolo V, Brugnoli F, Marchisio M, Capitani S
J Biol Regul Homeost Agents 2004 Jul-Dec;18(3-4):381-6. PMID: 15786708
Advani A, Marshall SM, Thomas TH
Eur J Clin Invest 2004 May;34(5):358-64. doi: 10.1111/j.1365-2362.2004.01346.x. PMID: 15147333
Nunoi H, Yamazaki T, Tsuchiya H, Kato S, Malech HL, Matsuda I, Kanegasaki S
Proc Natl Acad Sci U S A 1999 Jul 20;96(15):8693-8. doi: 10.1073/pnas.96.15.8693. PMID: 10411937Free PMC Article
Carulli G, Sbrana S, Minnucci S, Azzarà A, Angiolini C, Gullaci AR, Ambrogi F
Leuk Res 1997 Jun;21(6):513-8. doi: 10.1016/s0145-2126(97)00009-x. PMID: 9279362

Clinical prediction guides

Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Seppänen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689Free PMC Article
Ikeda M, Futami M, Chanda B, Kobayashi M, Izawa K, Tojo A
Biochem Biophys Res Commun 2022 Sep 24;622:177-183. Epub 2022 Jul 14 doi: 10.1016/j.bbrc.2022.07.037. PMID: 35932529
Kempers L, Sprenkeler EGG, van Steen ACI, van Buul JD, Kuijpers TW
Front Immunol 2021;12:678030. Epub 2021 May 31 doi: 10.3389/fimmu.2021.678030. PMID: 34135903Free PMC Article
Sprenkeler EGG, Henriet SSV, Tool ATJ, Kreft IC, van der Bijl I, Aarts CEM, van Houdt M, Verkuijlen PJJH, van Aerde K, Jaspers G, van Heijst A, Koole W, Gardeitchik T, Geissler J, de Boer M, Tol S, Bruggeman CW, van Alphen FPJ, Verhagen HJMP, van den Akker E, Janssen H, van Bruggen R, van den Berg TK, Liem KD, Kuijpers TW
Blood 2020 Jun 11;135(24):2171-2181. doi: 10.1182/blood.2019002633. PMID: 32128589
Molli PR, Pradhan MB, Advani SH, Naik NR
Mol Cancer 2012 Mar 25;11:16. doi: 10.1186/1476-4598-11-16. PMID: 22443473Free PMC Article

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