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Chediak-Higashi syndrome, adult type

MedGen UID:
865430
Concept ID:
C4016993
Finding
Synonym: CHEDIAK-HIGASHI SYNDROME, ADULT TYPE
 
OMIM®: 606897

Recent clinical studies

Etiology

Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Gironi LC, Zottarelli F, Savoldi G, Notarangelo LD, Basso ME, Ferrero I, Timeus F, Fagioli F, Maiuri L, Colombo E, Savoia P
Medicina (Kaunas) 2019 Mar 25;55(3) doi: 10.3390/medicina55030078. PMID: 30934652Free PMC Article
Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S
Blood 2013 Apr 11;121(15):2943-51. Epub 2013 Feb 12 doi: 10.1182/blood-2012-10-463166. PMID: 23403622Free PMC Article
Sakata N, Kawa K, Kato K, Yabe H, Yabe M, Nagasawa M, Mugishima H, Kigasawa H, Tsuchida M, Akiyama Y, Morisima Y, Kodera Y, Kato S
Int J Hematol 2004 Aug;80(2):174-82. doi: 10.1532/ijh97.04055. PMID: 15481448
Root RK, Rosenthal AS, Balestra DJ
J Clin Invest 1972 Mar;51(3):649-65. doi: 10.1172/JCI106854. PMID: 4400956Free PMC Article

Diagnosis

Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Gironi LC, Zottarelli F, Savoldi G, Notarangelo LD, Basso ME, Ferrero I, Timeus F, Fagioli F, Maiuri L, Colombo E, Savoia P
Medicina (Kaunas) 2019 Mar 25;55(3) doi: 10.3390/medicina55030078. PMID: 30934652Free PMC Article
Wolach B, Gavrieli R, Roos D, Berger-Achituv S
J Clin Immunol 2012 Jun;32(3):454-66. Epub 2011 Dec 30 doi: 10.1007/s10875-011-9633-4. PMID: 22207252

Prognosis

Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Gironi LC, Zottarelli F, Savoldi G, Notarangelo LD, Basso ME, Ferrero I, Timeus F, Fagioli F, Maiuri L, Colombo E, Savoia P
Medicina (Kaunas) 2019 Mar 25;55(3) doi: 10.3390/medicina55030078. PMID: 30934652Free PMC Article
Sakata N, Kawa K, Kato K, Yabe H, Yabe M, Nagasawa M, Mugishima H, Kigasawa H, Tsuchida M, Akiyama Y, Morisima Y, Kodera Y, Kato S
Int J Hematol 2004 Aug;80(2):174-82. doi: 10.1532/ijh97.04055. PMID: 15481448

Clinical prediction guides

Viuff B, Aasted B, Alexandersen S
J Virol 1994 Apr;68(4):2720-5. doi: 10.1128/JVI.68.4.2720-2725.1994. PMID: 8139047Free PMC Article
Bloom ME, Kanno H, Mori S, Wolfinbarger JB
Infect Agents Dis 1994 Dec;3(6):279-301. PMID: 7889316
Misra VP, King RH, Harding AE, Muddle JR, Thomas PK
Acta Neuropathol 1991;81(3):354-8. doi: 10.1007/BF00305881. PMID: 2058369
Maeda K, Sueishi K, Lida M
Pathol Res Pract 1989 Aug;185(2):231-7. doi: 10.1016/S0344-0338(89)80257-2. PMID: 2798223

Supplemental Content

Table of contents

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