U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Cui TX, Brady AE, Fulton CT, Zhang YJ, Rosenbloom LM, Goldsmith AM, Moore BB, Popova AP
Front Immunol 2020;11:579628. Epub 2020 Oct 6 doi: 10.3389/fimmu.2020.579628. PMID: 33117383Free PMC Article
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

Dinauer MC
Methods Mol Biol 2020;2087:11-29. doi: 10.1007/978-1-0716-0154-9_2. PMID: 31728980
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
Dinauer MC
Methods Mol Biol 2014;1124:501-15. doi: 10.1007/978-1-62703-845-4_30. PMID: 24504971
Dinauer MC
Methods Mol Biol 2007;412:489-504. doi: 10.1007/978-1-59745-467-4_30. PMID: 18453130
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
Lesma E, Riva E, Giovannini M, Di Giulio AM, Gorio A
Int J Immunopathol Pharmacol 2005 Apr-Jun;18(2):297-307. doi: 10.1177/039463200501800212. PMID: 15888252
Coates TD, Torkildson JC, Torres M, Church JA, Howard TH
Blood 1991 Sep 1;78(5):1338-46. PMID: 1878595
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
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
Cui TX, Brady AE, Fulton CT, Zhang YJ, Rosenbloom LM, Goldsmith AM, Moore BB, Popova AP
Front Immunol 2020;11:579628. Epub 2020 Oct 6 doi: 10.3389/fimmu.2020.579628. PMID: 33117383Free 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
Howard TH, Watts RG
Curr Opin Hematol 1994 Jan;1(1):61-8. PMID: 9371261

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...