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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
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
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, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:20301751
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
[Immunodeficiency and partial albinism, Griscelli syndrome].
Kawakami T, Mizoguchi M.
Ryoikibetsu Shokogun Shirizu. 2000;(32):302-4.
PMID:11212724
Case Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism.
Rausch J, Herold S, Liebhäuser S, Bülbül Y, Antunes Ferreira E, Wenz T, Legscha KJ, Bros M, Butsch F, Kriege O, Warnatz K, Groß M, Lehmberg K, Lichtenfeld HC, La Rosée P, Radsak MP, Theobald M, Echchannaoui H, Munder M.
Front Immunol. 2025 Aug 7;16:1604460. doi: 10.3389/fimmu.2025.1604460. eCollection 2025.
PMID:40852732
Albinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome.
Bouhafs N, N'joumi C, Elouali A, Babakhouya A, Rkain M, Benajiba N.
Cureus. 2024 Jun 11;16(6):e62178. doi: 10.7759/cureus.62178. eCollection 2024 Jun.
PMID:38993473
Chediak-Higashi Syndrome.
Ajitkumar A, Zeppieri M.
2026 Mar 29. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–.
PMID:29939658
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