- ... Dauguet C; Fischer A; Manigne P; Chermann JC; Griscelli C; Montagnier L. ... hepatitis B a prevention for the risk?]. Gastroenterol Clin Biol 1984 Jan; ...
- ... BTBD12 , FANCQ/ERCC4/XPF , FANCS/BRCA1 DNA repair Griscelli syndrome (type 1, type 2, and type 3) MYO5A , ... in the first decade of life.[ 123 - 125 ] Griscelli syndrome, also inherited in an autosomal recessive manner, was ...
- ... published></health-condition-summary><health-condition-summary ><name >Griscelli syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... 2004] , these disorders include Chediak-Higashi syndrome and Griscelli syndrome (see Table 2b ). Table 2b. Differential Diagnosis of ... allogenic HSCT – develop neurologic findings. MLPH MYO5A RAB27A Griscelli syndrome 2 (OMIM 214450 ) AR Mild hypopigmentation & immunodeficiency Can ...
- ... OMIM 267500 ) Cartilage-hair hypoplasia Chediak-Higashi syndrome Griscelli syndrome (OMIM PS214450 ) Barth syndrome Wiskott-Aldrich syndrome (See ...
- ... described in affected family members. MLPH MYO5A RAB27A Griscelli syndrome (GS) (OMIM PS214450 ) AR Mild skin hypopigmentation & silvery- ... Henter JI. Treatment of the X-linked lymphoproliferative, Griscelli and Chediak-Higashi syndromes by HLH directed therapy. Pediatr Blood Cancer. 2009; ...
- ... neutropenia Cohen syndrome Glycogen storage disease type 1b Griscelli syndrome type 2 (OMIM 607624 ) Hermansky-Pudlak syndrome type ...
- ... hemophagocytic lymphohistiocytosis: MedlinePlus Genetics (National Library of Medicine) Griscelli syndrome: MedlinePlus Genetics (National Library of Medicine) Hepatic veno- ...
- ... partial" OCA. Immunodeficiency & bleeding diathesis MLPH MYO5A RAB27A Griscelli syndrome(GS) (OMIM PS214450 ) <1% Skin hypopigmentation w/characteristic ...
- ... often not identified in persons w/fHLH. RAB27A Griscelli syndrome type 2 (GS2) (OMIM 607624 ) AR Disorder of ...
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