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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

Integrated clinical genotype-phenotype characteristics of early T-cell precursor acute lymphoblastic leukemia.
Ye MT, Wang Y, Zuo Z, Calin S, He H, Tang Z, Jabbour EJ, Borthakur G, Zhang Y, Yang Y, You MJ
Cancer 2023 Jan 1;129(1):49-59. Epub 2022 Oct 25 doi: 10.1002/cncr.34515. PMID: 36281717
Molecular Mechanisms and Management of a Cutaneous Inflammatory Disorder: Psoriasis.
Woo YR, Cho DH, Park HJ
Int J Mol Sci 2017 Dec 11;18(12) doi: 10.3390/ijms18122684. PMID: 29232931Free PMC Article
Evaluation and management of patients with isolated neutropenia.
Newburger PE, Dale DC
Semin Hematol 2013 Jul;50(3):198-206. doi: 10.1053/j.seminhematol.2013.06.010. PMID: 23953336Free PMC Article

Recent clinical studies

Etiology

Loss of TET2 in human hematopoietic stem cells alters the development and function of neutrophils.
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
Single-cell sequencing of immune cells from anticitrullinated peptide antibody positive and negative rheumatoid arthritis.
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
Pathophysiology of psoriasis: A review.
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
Monogenic autoinflammatory diseases.
Russo RA, Brogan PA
Rheumatology (Oxford) 2014 Nov;53(11):1927-39. Epub 2014 May 15 doi: 10.1093/rheumatology/keu170. PMID: 24831056
Myelodysplastic syndromes.
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

Genetic Abnormalities in Extramedullary Multiple Myeloma.
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
Update on Lymphoblastic Leukemia/Lymphoma.
Luca DC
Clin Lab Med 2021 Sep;41(3):405-416. doi: 10.1016/j.cll.2021.04.003. PMID: 34304772
Monogenic autoinflammatory diseases.
Russo RA, Brogan PA
Rheumatology (Oxford) 2014 Nov;53(11):1927-39. Epub 2014 May 15 doi: 10.1093/rheumatology/keu170. PMID: 24831056
Myelodysplastic syndromes.
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
Alpha-mannosidosis.
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

NKG2D-CAR-transduced natural killer cells efficiently target multiple myeloma.
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
Regulatory T cells in multiple sclerosis and myasthenia gravis.
Danikowski KM, Jayaraman S, Prabhakar BS
J Neuroinflammation 2017 Jun 9;14(1):117. doi: 10.1186/s12974-017-0892-8. PMID: 28599652Free PMC Article
Severe congenital neutropenias.
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K
Nat Rev Dis Primers 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. PMID: 28593997Free PMC Article
Myelodysplastic syndromes.
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
Dyskeratosis congenita.
Gupta V, Kumar A
Adv Exp Med Biol 2010;685:215-9. doi: 10.1007/978-1-4419-6448-9_20. PMID: 20687509

Prognosis

Genetic Abnormalities in Extramedullary Multiple Myeloma.
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
Update on Lymphoblastic Leukemia/Lymphoma.
Luca DC
Clin Lab Med 2021 Sep;41(3):405-416. doi: 10.1016/j.cll.2021.04.003. PMID: 34304772
B Cell Lymphoma.
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
Myelodysplastic syndromes.
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
Alpha-mannosidosis.
Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971Free PMC Article

Clinical prediction guides

Molecular Pathogenesis of Central and Peripheral Nervous System Complications in Anderson-Fabry Disease.
Tuttolomondo A, Baglio I, Riolo R, Todaro F, Parrinello G, Miceli S, Simonetta I
Int J Mol Sci 2023 Dec 20;25(1) doi: 10.3390/ijms25010061. PMID: 38203231Free PMC Article
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
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
The role of T cells and myeloid-derived suppressor cells in refractory immune thrombocytopenia.
Yazdanbakhsh K, Provan D, Semple JW
Br J Haematol 2023 Oct;203(1):54-61. doi: 10.1111/bjh.19079. PMID: 37735552
Newly developed and validated eosinophilic esophagitis histology scoring system and evidence that it outperforms peak eosinophil count for disease diagnosis and monitoring.
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
Lysosome-related organelles.
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

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review.
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
Pathophysiology of IgG4-related disease: A T follicular helper cells disease?
De Sainte Marie B, Urban ML, Vély F, Seguier J, Grados A, Daniel L, Ebbo M, Schleinitz N
Presse Med 2020 Apr;49(1):104013. Epub 2020 Mar 29 doi: 10.1016/j.lpm.2020.104013. PMID: 32234383
A systematic review of natural killer cells profile and cytotoxic function in myalgic encephalomyelitis/chronic fatigue syndrome.
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
MicroRNAs (MiRs) Precisely Regulate Immune System Development and Function in Immunosenescence Process.
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
Cellular models to study bipolar disorder: A systematic review.
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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