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partial albinism immunodeficiency syndrome 相关文献:
Chediak-Higashi syndrome.
Talbert ML, Malicdan MCV, Introne WJ.
Curr Opin Hematol. 2023 Jul 1;30(4):144-151. doi: 10.1097/MOH.0000000000000766. Epub 2023 Apr 25.
PMID:37254856
Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature.
Mancini AJ, Chan LS, Paller AS.
J Am Acad Dermatol. 1998 Feb;38(2 Pt 2):295-300. doi: 10.1016/s0190-9622(98)70568-7.
PMID:9486701
Partial albinism with immunodeficiency (Griscelli syndrome).
Klein C, Philippe N, Le Deist F, Fraitag S, Prost C, Durandy A, Fischer A, Griscelli C.
J Pediatr. 1994 Dec;125(6 Pt 1):886-95. doi: 10.1016/s0022-3476(05)82003-7.
PMID:7996360
Chediak-Higashi Syndrome.
Toro C, Morimoto M, Malicdan MC, Adams DR, Introne WJ.
2009 Mar 3 [updated 2023 Dec 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301751
[Immunodeficiency and partial albinism, Griscelli syndrome].
Kawakami T, Mizoguchi M.
Ryoikibetsu Shokogun Shirizu. 2000;(32):302-4.
PMID:11212724
Chediak-Higashi syndrome.
Barak Y, Nir E.
Am J Pediatr Hematol Oncol. 1987 Spring;9(1):42-55. doi: 10.1097/00043426-198721000-00008.
PMID:3296821
Diagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited.
Henter JI, Sieni E, Eriksson J, Bergsten E, Hed Myrberg I, Canna SW, Coniglio ML, Cron RQ, Kernan KF, Kumar AR, Lehmberg K, Minoia F, Naqvi A, Ravelli A, Tang YM, Bottai M, Bryceson YT, Horne A, Jordan MB.
Blood. 2024 Nov 28;144(22):2308-2318. doi: 10.1182/blood.2024025077.
PMID:39046779
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.
Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, Badolato R.
Orphanet J Rare Dis. 2013 Oct 17;8:168. doi: 10.1186/1750-1172-8-168.
PMID:24134793
Chediak-Higashi Syndrome: Hair-to-toe spectrum.
Greene S, Soldatos A, Toro C, Zein WM, Snow J, Lehky TJ, Malicdan MCV, Introne WJ.
Semin Pediatr Neurol. 2024 Dec;52:101168. doi: 10.1016/j.spen.2024.101168. Epub 2024 Nov 8.
PMID:39622608
Partial albinism and immunodeficiency in patients with Hermansky-Pudlak Type II: Introducing 2 novel mutations.
Alizadeh Z, Nabilou S, Mazinani M, Tajik S, Hamidieh AA, Houshmand M, Fazlollahi MR, Pourpak Z.
Scand J Immunol. 2021 Jan;93(1):e12966. doi: 10.1111/sji.12966. Epub 2020 Sep 14.
PMID:32869296
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