Severe congenital neutropenia (redirect from Kostmann syndrome)
Severe congenital neutropenia (SCN), also often known as Kostmann syndrome or disease, is a group of rare disorders that affect myelopoiesis, causing...
21 KB (2,057 words) - 06:42, 11 November 2024
syndrome Kostmann syndrome Kounis syndrome Kowarski syndrome Kufor–Rakeb syndrome König's syndrome Lachiewicz–Sibley syndrome Lacunar Stroke Syndrome...
42 KB (4,068 words) - 16:56, 1 November 2024
Kohlschütter-Tönz syndrome Koilonychia Konigsmark–Knox–Hussels syndrome Koone–Rizzo–Elias syndrome Korsakoff's syndrome Korula–Wilson–Salomonson syndrome Kostmann syndrome...
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deficiency Kostmann syndrome (HAX1 deficiency) Neutropenia with cardiac and urogenital malformations Glycogen storage disease type 1b Cohen syndrome Clericuzio...
19 KB (1,836 words) - 09:52, 5 July 2024
Shwachman–Diamond syndrome, Kostmann syndrome, neurofibromatosis type 1, ataxia-telangiectasia, paroxysmal nocturnal hemoglobinuria, and Li–Fraumeni syndrome. Fewer...
78 KB (7,830 words) - 05:56, 10 November 2024
syndrome Phagocyte disorders Kostmann syndrome Shwachman–Diamond syndrome Immune dysregulation diseases Griscelli syndrome, type II Innate immune deficiencies...
4 KB (364 words) - 18:31, 9 February 2024
ataxia-telangiectasia (all characterised by problems with DNA repair), and Kostmann syndrome. Being overweight and obese increase the risk of developing AML, as...
75 KB (7,543 words) - 06:32, 11 November 2024
signaling, and colony-stimulating. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. Mutations in the intracellular...
13 KB (1,548 words) - 05:32, 17 August 2024
Radiation Toxins – alcohol, benzenes Intrinsic disorders – Fanconi's, Kostmann's, cyclic neutropenia, Chédiak–Higashi Immune dysfunction – connective tissue...
32 KB (3,218 words) - 21:14, 6 November 2024
early loss of teeth e.g. Kostmann's disease, cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome Permanent tooth discolouration...
27 KB (2,988 words) - 14:59, 14 July 2024
needed to transport glucose across the blood-brain barrier. Fanconi-Bickel syndrome (GLUT2 deficiency, formally known as GSD-XI) is a deficiency of GLUT2,...
59 KB (2,814 words) - 15:05, 31 October 2024