細網異形成症
WordNet
- infertility between hybrids
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/05/28 08:19:36」(JST)
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Reticular dysgenesis |
Classification and external resources |
ICD-10 |
D81.0 |
Reticular dysgenesis is a rare genetic disorder of the bone marrow resulting in complete absence of granulocytes and decreased number of abnormal lymphocytes. Production of red blood cells (erythrocytes) and megakaryocytes (platelet precursors) is not affected. There is also poor development of the secondary lymphoid organs.
Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID). The cause of reticular dysgenesis is the inability of granulocyte precursors to form granules secondary to mitochondrial adenylate kinase 2 malfunction.
Further reading
- Bertrand Y, Müller SM, Casanova JL, Morgan G, Fischer A, Friedrich W (May 2002). "Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients". Bone Marrow Transplant. 29 (9): 759–62. doi:10.1038/sj.bmt.1703531. PMID 12040473.
- Cham B, Bonilla MA, Winkelstein J (April 2002). "Neutropenia associated with primary immunodeficiency syndromes". Semin. Hematol. 39 (2): 107–12. doi:10.1053/shem.2002.31916. PMID 11957193.
- Emile JF, Geissmann F, Martin OC et al. (July 2000). "Langerhans cell deficiency in reticular dysgenesis". Blood 96 (1): 58–62. PMID 10891430.
- Ohashi Y (2000). "[Reticular dysgenesis]". Ryoikibetsu Shokogun Shirizu (in Japanese) (32): 35–7. PMID 11212742.
UpToDate Contents
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English Journal
- AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages.
- Six E1, Lagresle-Peyrou C1, Susini S1, De Chappedelaine C1, Sigrist N1, Sadek H1, Chouteau M1, Cagnard N2, Fontenay M3, Hermine O4, Chomienne C5, Reynier P6, Fischer A7, André-Schmutz I1, Gueguen N6, Cavazzana M8.
- Cell death & disease.Cell Death Dis.2015 Aug 13;6:e1856. doi: 10.1038/cddis.2015.211.
- Reticular dysgenesis is a human severe combined immunodeficiency that is primarily characterized by profound neutropenia and lymphopenia. The condition is caused by mutations in the adenylate kinase 2 (AK2) gene, resulting in the loss of mitochondrial AK2 protein expression. AK2 regulates the homeos
- PMID 26270350
- Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress.
- Rissone A1, Weinacht KG2, la Marca G3, Bishop K1, Giocaliere E4, Jagadeesh J1, Felgentreff K5, Dobbs K5, Al-Herz W6, Jones M1, Chandrasekharappa S1, Kirby M1, Wincovitch S1, Simon KL1, Itan Y7, DeVine A5, Schlaeger T5, Schambach A8, Sood R9, Notarangelo LD10, Candotti F11.
- The Journal of experimental medicine.J Exp Med.2015 Jul 27;212(8):1185-202. doi: 10.1084/jem.20141286. Epub 2015 Jul 6.
- Adenylate kinases (AKs) are phosphotransferases that regulate the cellular adenine nucleotide composition and play a critical role in the energy homeostasis of all tissues. The AK2 isoenzyme is expressed in the mitochondrial intermembrane space and is mutated in reticular dysgenesis (RD), a rare for
- PMID 26150473
- Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.
- Shearer WT1, Dunn E2, Notarangelo LD3, Dvorak CC2, Puck JM2, Logan BR4, Griffith LM5, Kohn DB6, O'Reilly RJ7, Fleisher TA8, Pai SY9, Martinez CA10, Buckley RH11, Cowan MJ2.
- The Journal of allergy and clinical immunology.J Allergy Clin Immunol.2014 Apr;133(4):1092-8. doi: 10.1016/j.jaci.2013.09.044. Epub 2013 Nov 28.
- BACKGROUND: The approach to the diagnosis of severe combined immunodeficiency disease (SCID) and related disorders varies among institutions and countries.OBJECTIVES: The Primary Immune Deficiency Treatment Consortium attempted to develop a uniform set of criteria for diagnosing SCID and related dis
- PMID 24290292
Japanese Journal
- Adenylate kinase 2 deficiency limits survival and regulates various genes during larval stages of <I>Drosophila melanogaster</I>
- 臍帯血移植により治療した Reticular dysgenesis の1例
- 日本産婦人科・新生児血液学会誌 = The Japanese journal of obstetrical, gynecological & neonatal hematology 19(1), "S-59"-"S-60", 2009-05-01
- NAID 10026710194
- 小児てんかんにおける出生前要因の検討 II 出生前要因に基づくてんかんの脳波に関する研究:第2編: 出生前要因に基づくてんかんの脳波に関する研究
Related Links
- 267500 - RETICULAR DYSGENESIS - RETICULAR DYSGENESIA;; CONGENITAL ALEUKIA;; SEVERE COMBINED IMMUNODEFICIENCY WITH LEUKOPENIA;; DE VAAL DISEASE;; HEMATOPOIETIC HYPOPLASIA ... NOTE ...
- The portal for rare diseases and orphan drugs ... Summary Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack ...
★リンクテーブル★
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異形成、形成不全、形成異常、形成不全症、形成異常症、発育異常、異発生
- 関
- aplasia、aplastic、dysgenetic、dysgenic、dysplasia、dysplastic、heteroplasia、heteroplasmy、hypoplasia、malformation、metaplasia、metaplastic
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- 関
- reticular、reticulata、reticulum