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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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1. 重度複合型免疫不全（SCID）：特定の欠損 severe combined immunodeficiency scid specific defects
2. 先天性好中球減少症 congenital neutropenia
3. T-B-NK+ SCID：臨床症状、診断、および治療 t b nk scid clinical manifestations diagnosis and treatment
4. 化学療法以外の原因による好中球減少症を有する小児の発熱における感染リスク risk of infection in children with fever and non chemotherapy induced neutropenia
5. 貧食細胞機能の原発性疾患：概要 primary disorders of phagocytic function an overview

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