| H00100 | |
| H番号 | H00100 |
| 名称 | 好中球減少症 |
| 概要 | Neutropenias represents a series of potentially life-threatening disorders characterised by a reduction in circulating neutrophils. Since neutrophils play a major role in host defense against bacteria, neutropenia patients suffer from frequent episodes of opportunistic bacterial infections. Severe congenital neutropenia (SCN) is a rare neutropenia with a bone marrow maturation arrest of granulocytic differentiation. Kostmann syndrome is an autosomal recessive SCN. The characteristic maturation arrest and the lack of mature neutrophils in peripheral blood of patients with Kostmann syndrome can be explained by the deletion of an anti-apoptotic factor (HAX-1) in myeloid cells of these patients. Heterozygous mutations in the protooncogene growth factor-independent 1 (GFI1) gene are also associated with SCN. In patients with autosomal dominant cyclic neutropenia (CyN), a condition with oscillating neutrophil counts but less severe clinical symptoms, heterozygous mutations in ELA-2/ELANE were discovered. Patients with X-linked severe congenital neutropenia (SCN) have been reported with activating mutations in Wiskott-Aldrich syndrome protein (WASp) leading to a constitutively-active form of the protein, and unregulated actin polymerization. |
| カテゴリ | 原発性免疫不全症 |
| ネットワーク | - |
| 病因遺伝子 | (SCN1) ELANE [HSA:1991] [KO:K01327] (SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223] (SCN3) HAX1 [HSA:10456] [KO:K16220] (SCN4) G6PC3 [HSA:92579] [KO:K01084] (SCN5) VPS45 [HSA:11311] [KO:K12479] (SCN6) JAGN1 [HSA:84522] [KO:K25789] (SCN7) CSF3R [HSA:1441] [KO:K05061] (SCN8) SRP54 [HSA:6729] [KO:K03106] (SCN9) CLPB [HSA:81570] [KO:K03695] (SCNX) WAS [HSA:7454] [KO:K05747] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | フィルグラスチム [DR:D03235] レノグラスチム [DR:D03247] ペグフィルグラスチム [DR:D06889] |
| コメント | - |
| リンク | ICD-11: 4B00.0 ICD-10: D70 OMIM: 202700 613107 607847 610738 612541 615285 616022 617014 618752 619813 300299 |
| 文献 | PMID:17162365 (SCN1, SCN2, SCNX) 著者 Kumar A, Teuber SS, Gershwin ME. タイトル Current perspectives on primary immunodeficiency diseases. 雑誌 Clin Dev Immunol 13:223-59 (2006) DOI:10.1080/17402520600800705 PMID:18424339 (SCN1, SCN2, SCN3, SCN7) 著者 Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT. タイトル Genetic diagnosis of primary immune deficiencies. 雑誌 Immunol Allergy Clin North Am 28:387-412, x (2008) DOI:10.1016/j.iac.2008.01.004 PMID:19811314 (SCN1, SCN2, SCN3, SCN4, SCN7) 著者 Rezaei N, Moazzami K, Aghamohammadi A, Klein C タイトル Neutropenia and primary immunodeficiency diseases. 雑誌 Int Rev Immunol 28:335-66 (2009) DOI:10.1080/08830180902995645 PMID:19118303 (SCN4) 著者 Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C タイトル A syndrome with congenital neutropenia and mutations in G6PC3. 雑誌 N Engl J Med 360:32-43 (2009) DOI:10.1056/NEJMoa0805051 PMID:23738510 (SCN5) 著者 Vilboux T, Lev A, Malicdan MC, Simon AJ, Jarvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R タイトル A congenital neutrophil defect syndrome associated with mutations in VPS45. 雑誌 N Engl J Med 369:54-65 (2013) DOI:10.1056/NEJMoa1301296 PMID:25129144 (SCN6) 著者 Boztug K, Jarvinen PM, Salzer E, Racek T, Monch S, Garncarz W, Gertz EM, Schaffer AA, Antonopoulos A, Haslam SM, Schieck L, Puchalka J, Diestelhorst J, Appaswamy G, Lescoeur B, Giambruno R, Bigenzahn JW, Elling U, Pfeifer D, Conde CD, Albert MH, Welte K, Brandes G, Sherkat R, van der Werff Ten Bosch J, Rezaei N, Etzioni A, Bellanne-Chantelot C, Superti-Furga G, Penninger JM, Bennett KL, von Blume J, Dell A, Donadieu J, Klein C タイトル JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. 雑誌 Nat Genet 46:1021-7 (2014) DOI:10.1038/ng.3069 PMID:24753537 (SCN7) 著者 Triot A, Jarvinen PM, Arostegui JI, Murugan D, Kohistani N, Dapena Diaz JL, Racek T, Puchalka J, Gertz EM, Schaffer AA, Kotlarz D, Pfeifer D, Diaz de Heredia Rubio C, Ozdemir MA, Patiroglu T, Karakukcu M, Sanchez de Toledo Codina J, Yague J, Touw IP, Unal E, Klein C タイトル Inherited biallelic CSF3R mutations in severe congenital neutropenia. 雑誌 Blood 123:3811-7 (2014) DOI:10.1182/blood-2013-11-535419 PMID:28972538 (SCN8) 著者 Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Muller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Bene MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S タイトル Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. 雑誌 J Clin Invest 127:4090-4103 (2017) DOI:10.1172/JCI92876 PMID:34115842 (SCN9) 著者 Warren JT, Cupo RR, Wattanasirakul P, Spencer DH, Locke AE, Makaryan V, Bolyard AA, Kelley ML, Kingston NL, Shorter J, Bellanne-Chantelot C, Donadieu J, Dale DC, Link DC タイトル Heterozygous variants of CLPB are a cause of severe congenital neutropenia. 雑誌 Blood 139:779-791 (2022) DOI:10.1182/blood.2021010762 |