| dbo:abstract |
متلازمة غريسيلي أو متلازمة غريسيللي (بالإنجليزية: Griscelli syndrome) هو مرض وراثي متنحي نادر ، يتميز بالمهق (نقص التصبغ) مع نقص المناعة، وعادة ما يسبب الموت في مرحل الطفولة المبكرة. (ar) Das Griscelli-Syndrom auch Griscelli-Prunieras Syndrom ist eine sehr seltene angeborene Form des partiellen Albinismus verbunden mit einem Immundefekt. Die Bezeichnung bezieht sich auf die Erstpublikation von 1978 durch den Pariser Kinderarzt Claude Griscelli. (de) Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Type 1 Griscelli Syndrome is assosciated with severe brain function issues along with distinctive discolouring of the hair and skin. Type 2 Griscelli Syndrome have immune system abnormalities in addition to hypopigmentation of skin and hair. Finally, Type 3 is seen as those only affected by hypopigmentation of the skin and hair. This type is not associated with immune deficiencies or neurological abnormalities. (en) La maladie ou le syndrome de Griscelli (SG) a été décrit pour la première fois par Griscelli et Pruniéras en 1978.Le SG est une maladie héréditaire rare caractérisée par un albinisme partiel associé à d’autres pathologies dans les cas les plus graves. C’est une maladie génétique à transmission autosomique récessive due à des mutations des gènes codant le complexe transporteur des mélanosomes. (fr) El síndrome de Griscelli es una rara enfermedad genética de transmisión autosómica recesiva caracterizada por albinismo e inmunodeficiencia que suele causar la muerte en la infancia. Se conocen tres tipos diferentes del trastorno. El tipo 1 se asocia con graves problemas cerebrales junto con una decoloración del cabello y de la piel. El tipo 2 se asocia con deficiencias inmunológicas además de del cabello y la piel. El tipo 3 sólo está asociado con del cabello y la piel sin presentar problemas neurológicos o inmunológicos. (es) Le sindromi di Griscelli, sono rare malattie autosomiche recessive, caratterizzate da depigmentazione della cute e dei capelli; un particolare albinismo parziale con ampi aggregati di pigmento nei fusti dei capelli e accumulo di maturi nei melanociti. Normalmente provoca la morte prematura nei neonati o infanti.Il nome è dovuto a Claude Griscelli, professore in pediatria presso l'Hôpital Necker Enfants-Malades di Parigi che per primo insieme a Pruniueras individuò la malattia nel 1978. (it) |
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| dbp:caption |
Griscelli syndrome has an autosomal recessive pattern of inheritance. (en) |
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Partial albinism-immunodeficiency syndrome, Griscelli-Pruniéras syndrome, Chédiak-Higashi-like syndrome (en) |
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| rdfs:comment |
متلازمة غريسيلي أو متلازمة غريسيللي (بالإنجليزية: Griscelli syndrome) هو مرض وراثي متنحي نادر ، يتميز بالمهق (نقص التصبغ) مع نقص المناعة، وعادة ما يسبب الموت في مرحل الطفولة المبكرة. (ar) Das Griscelli-Syndrom auch Griscelli-Prunieras Syndrom ist eine sehr seltene angeborene Form des partiellen Albinismus verbunden mit einem Immundefekt. Die Bezeichnung bezieht sich auf die Erstpublikation von 1978 durch den Pariser Kinderarzt Claude Griscelli. (de) Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Type 1 Griscelli Syndrome is assosciated with severe brain function issues along with distinctive discolouring of the hair and skin. Type 2 Griscelli Syndrome have immune system abnormalities in addition to hypopigmentation of skin and hair. Finally, Type 3 is seen as those only affected by hypopigmentation of the skin and hair. This type is not associated with immune deficiencies or neurological abnormalities. (en) La maladie ou le syndrome de Griscelli (SG) a été décrit pour la première fois par Griscelli et Pruniéras en 1978.Le SG est une maladie héréditaire rare caractérisée par un albinisme partiel associé à d’autres pathologies dans les cas les plus graves. C’est une maladie génétique à transmission autosomique récessive due à des mutations des gènes codant le complexe transporteur des mélanosomes. (fr) El síndrome de Griscelli es una rara enfermedad genética de transmisión autosómica recesiva caracterizada por albinismo e inmunodeficiencia que suele causar la muerte en la infancia. Se conocen tres tipos diferentes del trastorno. El tipo 1 se asocia con graves problemas cerebrales junto con una decoloración del cabello y de la piel. El tipo 2 se asocia con deficiencias inmunológicas además de del cabello y la piel. El tipo 3 sólo está asociado con del cabello y la piel sin presentar problemas neurológicos o inmunológicos. (es) Le sindromi di Griscelli, sono rare malattie autosomiche recessive, caratterizzate da depigmentazione della cute e dei capelli; un particolare albinismo parziale con ampi aggregati di pigmento nei fusti dei capelli e accumulo di maturi nei melanociti. Normalmente provoca la morte prematura nei neonati o infanti.Il nome è dovuto a Claude Griscelli, professore in pediatria presso l'Hôpital Necker Enfants-Malades di Parigi che per primo insieme a Pruniueras individuò la malattia nel 1978. (it) |
| rdfs:label |
متلازمة غريسيلي (ar) Griscelli-Syndrom (de) Síndrome de Griscelli (es) Maladie de Griscelli (fr) Griscelli syndrome (en) Sindrome di Griscelli (it) |
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