Griscelli syndrome type 2: Rare 3 cases from Iraq
Griscelli syndrome (GS) is multisystem disorder of three subtypes, hereditary autosomal recessive diseases characterized by inborn silvery gray hair, partial skin albinism & immune deficiency. It was first reported by Griscelli et al. in 1978. The pathogenic defect in the RAB27Agene is responsib...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-12-01
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| Series: | Iraqi Journal of Hematology |
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| Online Access: | https://journals.lww.com/10.4103/ijh.ijh_10_24 |
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| _version_ | 1841552023808376832 |
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| author | Mouroge Hashim AL Ani Farah Samer Yahya |
| author_facet | Mouroge Hashim AL Ani Farah Samer Yahya |
| author_sort | Mouroge Hashim AL Ani |
| collection | DOAJ |
| description | Griscelli syndrome (GS) is multisystem disorder of three subtypes, hereditary autosomal recessive diseases characterized by inborn silvery gray hair, partial skin albinism & immune deficiency. It was first reported by Griscelli et al. in 1978. The pathogenic defect in the RAB27Agene is responsible both for inborn pigmentary impairment and for triggering the Hemophagocytic lymphohistiocytosis (HLH) a rapidly progressive, life-threatening condtion. We present two cases from different governorates who were diagnosed with GS by achieving genetic study: the first case was saved by successful bone marrow transplantation, whereas the second case died before managing to do the procedure, being rare and underdiagnosed disease end with misdiagnosis and mismanagement. |
| format | Article |
| id | doaj-art-e2d2433a0e6f45308ec910e73b41dcbd |
| institution | Kabale University |
| issn | 2072-8069 2543-2702 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Iraqi Journal of Hematology |
| spelling | doaj-art-e2d2433a0e6f45308ec910e73b41dcbd2025-01-09T13:55:14ZengWolters Kluwer Medknow PublicationsIraqi Journal of Hematology2072-80692543-27022024-12-0113231932310.4103/ijh.ijh_10_24Griscelli syndrome type 2: Rare 3 cases from IraqMouroge Hashim AL AniFarah Samer YahyaGriscelli syndrome (GS) is multisystem disorder of three subtypes, hereditary autosomal recessive diseases characterized by inborn silvery gray hair, partial skin albinism & immune deficiency. It was first reported by Griscelli et al. in 1978. The pathogenic defect in the RAB27Agene is responsible both for inborn pigmentary impairment and for triggering the Hemophagocytic lymphohistiocytosis (HLH) a rapidly progressive, life-threatening condtion. We present two cases from different governorates who were diagnosed with GS by achieving genetic study: the first case was saved by successful bone marrow transplantation, whereas the second case died before managing to do the procedure, being rare and underdiagnosed disease end with misdiagnosis and mismanagement.https://journals.lww.com/10.4103/ijh.ijh_10_24griscelli syndrome type 2iraqrab27a |
| spellingShingle | Mouroge Hashim AL Ani Farah Samer Yahya Griscelli syndrome type 2: Rare 3 cases from Iraq Iraqi Journal of Hematology griscelli syndrome type 2 iraq rab27a |
| title | Griscelli syndrome type 2: Rare 3 cases from Iraq |
| title_full | Griscelli syndrome type 2: Rare 3 cases from Iraq |
| title_fullStr | Griscelli syndrome type 2: Rare 3 cases from Iraq |
| title_full_unstemmed | Griscelli syndrome type 2: Rare 3 cases from Iraq |
| title_short | Griscelli syndrome type 2: Rare 3 cases from Iraq |
| title_sort | griscelli syndrome type 2 rare 3 cases from iraq |
| topic | griscelli syndrome type 2 iraq rab27a |
| url | https://journals.lww.com/10.4103/ijh.ijh_10_24 |
| work_keys_str_mv | AT mourogehashimalani griscellisyndrometype2rare3casesfromiraq AT farahsameryahya griscellisyndrometype2rare3casesfromiraq |