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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
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma, Version 4.2020, NCCN Clinical Practice Guidelines in Oncology.
Wierda WG, Byrd JC, Abramson JS, Bilgrami SF, Bociek G, Brander D, Brown J, Chanan-Khan AA, Chavez JC, Coutre SE, Davis RS, Fletcher CD, Hill B, Kahl BS, Kamdar M, Kaplan LD, Khan N, Kipps TJ, Lim MS, Ma S, Malek S, Mato A, Mosse C, Shadman M, Siddiqi T, Stephens D, Sundaram S, Wagner N, Dwyer M, Sundar H
J Natl Compr Canc Netw 2020 Feb;18(2):185-217. doi: 10.6004/jnccn.2020.0006. PMID: 32023533
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

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
Natural Killer Cells: Potential Biomarkers and Therapeutic Target in Autoimmune Diseases?
Gianchecchi E, Delfino DV, Fierabracci A
Front Immunol 2021;12:616853. Epub 2021 Feb 19 doi: 10.3389/fimmu.2021.616853. PMID: 33679757Free PMC Article
T- and NK-cell lymphoproliferative disorders of the gastrointestinal tract: review and update.
van Vliet C, Spagnolo DV
Pathology 2020 Jan;52(1):128-141. Epub 2019 Nov 11 doi: 10.1016/j.pathol.2019.10.001. PMID: 31727264
New and emerging prognostic and predictive genetic biomarkers in B-cell precursor acute lymphoblastic leukemia.
Moorman AV
Haematologica 2016 Apr;101(4):407-16. doi: 10.3324/haematol.2015.141101. PMID: 27033238Free PMC Article

Diagnosis

Hereditary myopathies associated with hematological abnormalities.
Beecher G, Fleming MD, Liewluck T
Muscle Nerve 2022 Apr;65(4):374-390. Epub 2022 Jan 5 doi: 10.1002/mus.27474. PMID: 34985130
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
Natural Killer Cells: Potential Biomarkers and Therapeutic Target in Autoimmune Diseases?
Gianchecchi E, Delfino DV, Fierabracci A
Front Immunol 2021;12:616853. Epub 2021 Feb 19 doi: 10.3389/fimmu.2021.616853. PMID: 33679757Free PMC Article
T- and NK-cell lymphoproliferative disorders of the gastrointestinal tract: review and update.
van Vliet C, Spagnolo DV
Pathology 2020 Jan;52(1):128-141. Epub 2019 Nov 11 doi: 10.1016/j.pathol.2019.10.001. PMID: 31727264
New and emerging prognostic and predictive genetic biomarkers in B-cell precursor acute lymphoblastic leukemia.
Moorman AV
Haematologica 2016 Apr;101(4):407-16. doi: 10.3324/haematol.2015.141101. PMID: 27033238Free 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
Rituximab therapy for refractory steroid-resistant nephrotic syndrome in children.
Kamei K, Ishikura K, Sako M, Ito S, Nozu K, Iijima K
Pediatr Nephrol 2020 Jan;35(1):17-24. Epub 2018 Dec 18 doi: 10.1007/s00467-018-4166-1. PMID: 30564879
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
New and emerging prognostic and predictive genetic biomarkers in B-cell precursor acute lymphoblastic leukemia.
Moorman AV
Haematologica 2016 Apr;101(4):407-16. doi: 10.3324/haematol.2015.141101. PMID: 27033238Free 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

Prognosis

Multiomics identifies the link between intratumor steatosis and the exhausted tumor immune microenvironment in hepatocellular carcinoma.
Murai H, Kodama T, Maesaka K, Tange S, Motooka D, Suzuki Y, Shigematsu Y, Inamura K, Mise Y, Saiura A, Ono Y, Takahashi Y, Kawasaki Y, Iino S, Kobayashi S, Idogawa M, Tokino T, Hashidate-Yoshida T, Shindou H, Miyazaki M, Imai Y, Tanaka S, Mita E, Ohkawa K, Hikita H, Sakamori R, Tatsumi T, Eguchi H, Morii E, Takehara T
Hepatology 2023 Jan 1;77(1):77-91. Epub 2022 Jun 17 doi: 10.1002/hep.32573. PMID: 35567547Free 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
T- and NK-cell lymphoproliferative disorders of the gastrointestinal tract: review and update.
van Vliet C, Spagnolo DV
Pathology 2020 Jan;52(1):128-141. Epub 2019 Nov 11 doi: 10.1016/j.pathol.2019.10.001. PMID: 31727264
New and emerging prognostic and predictive genetic biomarkers in B-cell precursor acute lymphoblastic leukemia.
Moorman AV
Haematologica 2016 Apr;101(4):407-16. doi: 10.3324/haematol.2015.141101. PMID: 27033238Free PMC Article

Clinical prediction guides

The Immune Dysregulation of Common Variable Immunodeficiency Disorders.
Fernando SL, Jang HS, Li J
Immunol Lett 2021 Feb;230:21-26. Epub 2020 Dec 14 doi: 10.1016/j.imlet.2020.12.002. PMID: 33333111
Identification of fusion genes and characterization of transcriptome features in T-cell acute lymphoblastic leukemia.
Chen B, Jiang L, Zhong ML, Li JF, Li BS, Peng LJ, Dai YT, Cui BW, Yan TQ, Zhang WN, Weng XQ, Xie YY, Lu J, Ren RB, Chen SN, Hu JD, Wu DP, Chen Z, Tang JY, Huang JY, Mi JQ, Chen SJ
Proc Natl Acad Sci U S A 2018 Jan 9;115(2):373-378. Epub 2017 Dec 26 doi: 10.1073/pnas.1717125115. PMID: 29279377Free PMC Article
New and emerging prognostic and predictive genetic biomarkers in B-cell precursor acute lymphoblastic leukemia.
Moorman AV
Haematologica 2016 Apr;101(4):407-16. doi: 10.3324/haematol.2015.141101. PMID: 27033238Free PMC Article
Eight-color immunophenotyping of T-, B-, and NK-cell subpopulations for characterization of chronic immunodeficiencies.
Boldt A, Borte S, Fricke S, Kentouche K, Emmrich F, Borte M, Kahlenberg F, Sack U
Cytometry B Clin Cytom 2014 May;86(3):191-206. Epub 2014 Jan 31 doi: 10.1002/cyto.b.21162. PMID: 24488780
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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