Journal ArticleDOI
Partial albinism with immunodeficiency (Griscelli syndrome)
Christoph Klein,N Philippe,Françoise Le Deist,Sylvie Fraitag,Catherine Prost,Anne Durandy,Alain Fischer,Claude Griscelli +7 more
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TLDR
It is concluded that partial albinism with immunodeficiency (Griscelli syndrome) can be differentiated from Chédiak-Higashi syndrome by pathognomonic histologic features.About:
This article is published in The Journal of Pediatrics.The article was published on 1994-12-01. It has received 207 citations till now. The article focuses on the topics: Griscelli syndrome & Griscelli syndrome type 2.read more
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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
Gaël Ménasché,Pastural E,Jérôme Feldmann,Stéphanie Certain,Fügen Ersoy,Stéphanie Dupuis,NM Wulffraat,Diana W. Bianchi,Alain Fischer,Alain Fischer,Le Deist F,Le Deist F,de Saint Basile G +12 more
TL;DR: The GTP-binding protein RAB27A appears to be involved in the control of the immune system, as all patients with RAB 27A mutations, but none with the MYO5A mutation, developed HS.
Journal ArticleDOI
Familial and acquired hemophagocytic lymphohistiocytosis
TL;DR: In conclusion, awareness of the clinical symptoms and of the diagnostic criteria of HLH is crucial in order not to overlook HLH and to start life-saving therapy in time.
Journal ArticleDOI
Formation and function of the lytic NK-cell immunological synapse
TL;DR: The natural killer (NK)-cell immunological synapse is the dynamic interface formed between an NK cell and its target cell and this tight regulation underlies the precision with which NK cells select and kill susceptible target cells.
Journal ArticleDOI
Rab GTPases, intracellular traffic and disease.
TL;DR: The human genome is predicted to contain 60 RAB genes, suggesting that future work could reveal further links between Rab dysfunction and disease, and the function of endocytic Rabs is altered either as part of host defences or as part- survival strategy of the pathogen.
Journal ArticleDOI
Griscelli Disease Maps to Chromosome 15q21 and Is Associated With Mutations in the myosin-Va Gene
Pastural E,Franck J. Barrat,Dufourcq-Lagelouse R,Stéphanie Certain,Ozden Sanal,Nada Jabado,Reinhard Seger,Claude Griscelli,Alain Fischer,Alain Fischer,de Saint Basile G +10 more
TL;DR: It is reported that the Griscelli disease locus co-localizes on chromosome 15q21 with the myosin-Va gene, MYO5a, and that mutations of this gene occur in two patients with the disease.
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The metabolic basis of inherited disease
TL;DR: The metabolic basis of inherited disease, the metabolic basis for inherited disease as mentioned in this paper, The metabolic basis in inherited disease and inherited diseases, and inherited disease diagnosis and management, in the context of inherited diseases
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Severe herpesvirus infections in an adolescent without natural killer cells.
TL;DR: A population of T-cell–receptornegative (CD3–) lymphocytes that spontaneously mediate the lysis of sensitive target cells are studied.
Journal Article
Chemotaxis under agarose: a new and simple method for measuring chemotaxis and spontaneous migration of human polymorphonuclear leukocytes and monocytes.
TL;DR: A new and simple method for studying human leukocyte chemotaxis, in vitro, which is based upon migration of cells under agarose gel is described, which has application to both polymorphonuclear leukocytes and monocytes, and is rapid, simple, reproducible, and inexpensive to set up.