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Genetic anomaly of leukocyte

MedGen UID:
8996
Concept ID:
C0017377
Disease or Syndrome
Synonyms: Congenital Leucocyte Abnormality; Congenital Leucocyte Anomaly; Congenital Leukocyte Abnormality; Congenital Leukocyte Anomaly; Genetic Anomaly of Leucocyte; Genetic Anomaly of Leukocyte; Genetic leucocyte disorder; Genetic leukocyte disorder
SNOMED CT: Genetic leukocyte disorder (47986005); Genetic leucocyte disorder (47986005); Genetic anomaly of leukocyte (47986005)

Definition

An abnormality of leukocytes, the cause of which is present from birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGenetic anomaly of leukocyte

Professional guidelines

PubMed

Szuber N, Orazi A, Tefferi A
Am J Hematol 2024 Jul;99(7):1360-1387. Epub 2024 Apr 21 doi: 10.1002/ajh.27321. PMID: 38644693
Patnaik MM, Tefferi A
Am J Hematol 2024 Jun;99(6):1142-1165. Epub 2024 Mar 7 doi: 10.1002/ajh.27271. PMID: 38450850Free PMC Article
Woo YR, Cho DH, Park HJ
Int J Mol Sci 2017 Dec 11;18(12) doi: 10.3390/ijms18122684. PMID: 29232931Free PMC Article

Recent clinical studies

Etiology

Huerga Encabo H, Aramburu IV, Garcia-Albornoz M, Piganeau M, Wood H, Song A, Ferrelli A, Sharma A, Minutti CM, Domart MC, Papazoglou D, Gurashi K, Llorian Sopena M, Goldstone R, Fallesen T, Wang Q, Ariza-McNaughton L, Wiseman DH, Batta K, Gupta R, Papayannopoulos V, Bonnet D
Cell Stem Cell 2023 Jun 1;30(6):781-799.e9. doi: 10.1016/j.stem.2023.05.004. PMID: 37267914
Wu X, Liu Y, Jin S, Wang M, Jiao Y, Yang B, Lu X, Ji X, Fei Y, Yang H, Zhao L, Chen H, Zhang Y, Li H, Lipsky PE, Tsokos GC, Bai F, Zhang X
Nat Commun 2021 Aug 17;12(1):4977. doi: 10.1038/s41467-021-25246-7. PMID: 34404786Free PMC Article
Yamanaka K, Yamamoto O, Honda T
J Dermatol 2021 Jun;48(6):722-731. Epub 2021 Apr 22 doi: 10.1111/1346-8138.15913. PMID: 33886133
Russo RA, Brogan PA
Rheumatology (Oxford) 2014 Nov;53(11):1927-39. Epub 2014 May 15 doi: 10.1093/rheumatology/keu170. PMID: 24831056
Adès L, Itzykson R, Fenaux P
Lancet 2014 Jun 28;383(9936):2239-52. Epub 2014 Mar 21 doi: 10.1016/S0140-6736(13)61901-7. PMID: 24656536

Diagnosis

McAvera R, Quinn J, Murphy P, Glavey S
Int J Mol Sci 2023 Jul 9;24(14) doi: 10.3390/ijms241411259. PMID: 37511018Free PMC Article
Luca DC
Clin Lab Med 2021 Sep;41(3):405-416. doi: 10.1016/j.cll.2021.04.003. PMID: 34304772
Russo RA, Brogan PA
Rheumatology (Oxford) 2014 Nov;53(11):1927-39. Epub 2014 May 15 doi: 10.1093/rheumatology/keu170. PMID: 24831056
Adès L, Itzykson R, Fenaux P
Lancet 2014 Jun 28;383(9936):2239-52. Epub 2014 Mar 21 doi: 10.1016/S0140-6736(13)61901-7. PMID: 24656536
Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971Free PMC Article

Therapy

Leivas A, Valeri A, Córdoba L, García-Ortiz A, Ortiz A, Sánchez-Vega L, Graña-Castro O, Fernández L, Carreño-Tarragona G, Pérez M, Megías D, Paciello ML, Sánchez-Pina J, Pérez-Martínez A, Lee DA, Powell DJ Jr, Río P, Martínez-López J
Blood Cancer J 2021 Aug 14;11(8):146. doi: 10.1038/s41408-021-00537-w. PMID: 34392311Free PMC Article
Mogensen TH
Int Rev Immunol 2016;35(1):39-56. Epub 2015 May 13 doi: 10.3109/08830185.2015.1027820. PMID: 25970001
Adès L, Itzykson R, Fenaux P
Lancet 2014 Jun 28;383(9936):2239-52. Epub 2014 Mar 21 doi: 10.1016/S0140-6736(13)61901-7. PMID: 24656536
Gupta V, Kumar A
Adv Exp Med Biol 2010;685:215-9. doi: 10.1007/978-1-4419-6448-9_20. PMID: 20687509
Young NS
Ann Intern Med 2002 Apr 2;136(7):534-46. doi: 10.7326/0003-4819-136-7-200204020-00011. PMID: 11926789

Prognosis

McAvera R, Quinn J, Murphy P, Glavey S
Int J Mol Sci 2023 Jul 9;24(14) doi: 10.3390/ijms241411259. PMID: 37511018Free PMC Article
Luca DC
Clin Lab Med 2021 Sep;41(3):405-416. doi: 10.1016/j.cll.2021.04.003. PMID: 34304772
Meng X, Min Q, Wang JY
Adv Exp Med Biol 2020;1254:161-181. doi: 10.1007/978-981-15-3532-1_12. PMID: 32323276
Adès L, Itzykson R, Fenaux P
Lancet 2014 Jun 28;383(9936):2239-52. Epub 2014 Mar 21 doi: 10.1016/S0140-6736(13)61901-7. PMID: 24656536
Mullighan CG, Su X, Zhang J, Radtke I, Phillips LA, Miller CB, Ma J, Liu W, Cheng C, Schulman BA, Harvey RC, Chen IM, Clifford RJ, Carroll WL, Reaman G, Bowman WP, Devidas M, Gerhard DS, Yang W, Relling MV, Shurtleff SA, Campana D, Borowitz MJ, Pui CH, Smith M, Hunger SP, Willman CL, Downing JR; Children's Oncology Group
N Engl J Med 2009 Jan 29;360(5):470-80. Epub 2009 Jan 7 doi: 10.1056/NEJMoa0808253. PMID: 19129520Free PMC Article

Clinical prediction guides

Bilgic Eltan S, Nain E, Catak MC, Ezen E, Sefer AP, Karimi N, Kiykim A, Kolukisa B, Baser D, Bulutoglu A, Kasap N, Yorgun Altunbas M, Yalcin Gungoren E, Kendir Demirkol Y, Kutlug S, Hancioglu G, Dilek F, Yildiran A, Ozen A, Karakoc-Aydiner E, Erman B, Baris S
J Clin Immunol 2023 Dec 22;44(1):26. doi: 10.1007/s10875-023-01620-6. PMID: 38129713
Yazdanbakhsh K, Provan D, Semple JW
Br J Haematol 2023 Oct;203(1):54-61. doi: 10.1111/bjh.19079. PMID: 37735552
Xu X, Paxton CN, Hayashi RJ, Dunsmore KP, Winter SS, Hunger SP, Winick NJ, Carroll WL, Loh ML, Devidas M, Gross TG, Bollard CM, Perkins SL, Miles RR
Blood Adv 2021 Jul 27;5(14):2890-2900. doi: 10.1182/bloodadvances.2021004334. PMID: 34297047Free PMC Article
Collins MH, Martin LJ, Alexander ES, Boyd JT, Sheridan R, He H, Pentiuk S, Putnam PE, Abonia JP, Mukkada VA, Franciosi JP, Rothenberg ME
Dis Esophagus 2017 Feb 1;30(3):1-8. doi: 10.1111/dote.12470. PMID: 26857345Free PMC Article
Dell'Angelica EC, Mullins C, Caplan S, Bonifacino JS
FASEB J 2000 Jul;14(10):1265-78. doi: 10.1096/fj.14.10.1265. PMID: 10877819

Recent systematic reviews

Frye RE, Rincon N, McCarty PJ, Brister D, Scheck AC, Rossignol DA
Neurobiol Dis 2024 Jul;197:106520. Epub 2024 May 3 doi: 10.1016/j.nbd.2024.106520. PMID: 38703861
Park JH, Lee KH, Jeon B, Ochs HD, Lee JS, Gee HY, Seo S, Geum D, Piccirillo CA, Eisenhut M, van der Vliet HJ, Lee JM, Kronbichler A, Ko Y, Shin JI
Autoimmun Rev 2020 Jun;19(6):102526. Epub 2020 Mar 29 doi: 10.1016/j.autrev.2020.102526. PMID: 32234571
Eaton-Fitch N, du Preez S, Cabanas H, Staines D, Marshall-Gradisnik S
Syst Rev 2019 Nov 14;8(1):279. doi: 10.1186/s13643-019-1202-6. PMID: 31727160Free PMC Article
Aalaei-Andabili SH, Rezaei N
Int Rev Immunol 2016;35(1):57-66. Epub 2015 Sep 1 doi: 10.3109/08830185.2015.1077828. PMID: 26327579
Viswanath B, Jose SP, Squassina A, Thirthalli J, Purushottam M, Mukherjee O, Vladimirov V, Patrinos GP, Del Zompo M, Jain S
J Affect Disord 2015 Sep 15;184:36-50. Epub 2015 May 28 doi: 10.1016/j.jad.2015.05.037. PMID: 26070045

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