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Page 1
Diagnostic and therapeutic caveats in Griscelli syndrome.
Castaño-Jaramillo LM, Lugo-Reyes SO, Cruz Muñoz ME, Scheffler-Mendoza SC, Duran McKinster C, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Saez-de-Ocariz Gutierrez MDM. Castaño-Jaramillo LM, et al. Scand J Immunol. 2021 Jun;93(6):e13034. doi: 10.1111/sji.13034. Epub 2021 Mar 20. Scand J Immunol. 2021. PMID: 33660295 Free article. Review.
Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.
Sefsafi Z, Hasbaoui BE, Kili A, Agadr A, Khattab M. Sefsafi Z, et al. Pan Afr Med J. 2018 Jan 25;29:75. doi: 10.11604/pamj.2018.29.75.12353. eCollection 2018. Pan Afr Med J. 2018. PMID: 29875956 Free PMC article. Review.
We present here a case of Macrophage activation syndrome associated with Griscelli syndrome type 2 in a 3-years-old boy who had been referred due to severe sepsis with non-remitting high fever, generalized lymphoadenopathy and hepato-splenomegaly. ...T …
We present here a case of Macrophage activation syndrome associated with Griscelli syndrome type 2 in a 3-years- …
Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.
Zamani R, Shahkarami S, Rezaei N. Zamani R, et al. Allergol Immunopathol (Madr). 2021 Mar 1;49(2):178-190. doi: 10.15586/aei.v49i2.61. eCollection 2021. Allergol Immunopathol (Madr). 2021. PMID: 33641308 Review.
However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2 and type 10, Vici syndrome, and P14/LAMTOR2 deficie …
However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak-Higashi syndrome, …
Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.
Krzewski K, Cullinane AR. Krzewski K, et al. Exp Cell Res. 2013 Sep 10;319(15):2360-7. doi: 10.1016/j.yexcr.2013.06.012. Epub 2013 Jun 26. Exp Cell Res. 2013. PMID: 23810987 Free PMC article. Review.
More than 60 Rab GTPases play important roles in protein trafficking, but only five Rab-encoding genes have been associated with inherited human disorders, and only one of these (Rab27a) causes an immune defect. Mutations in RAB27A cause Griscelli Syndrome type …
More than 60 Rab GTPases play important roles in protein trafficking, but only five Rab-encoding genes have been associated with inherited h …
Mimics and rare presentations of pediatric demyelination.
O'Mahony J, Shroff M, Banwell B. O'Mahony J, et al. Neuroimaging Clin N Am. 2013 May;23(2):321-36. doi: 10.1016/j.nic.2012.12.010. Epub 2013 Jan 23. Neuroimaging Clin N Am. 2013. PMID: 23608693 Review.
Cases of transverse myelitis, spinal infarction, acute disseminated encephalomyelitis, fever-induced refractory epileptic encephalopathy in school-aged children, small-vessel vasculitis, Griscelli syndrome type 2, cysticercosis, vitamin B12 deficiency, …
Cases of transverse myelitis, spinal infarction, acute disseminated encephalomyelitis, fever-induced refractory epileptic encephalopathy in …
Severe congenital neutropenia: new genes explain an old disease.
Bohn G, Welte K, Klein C. Bohn G, et al. Curr Opin Rheumatol. 2007 Nov;19(6):644-50. doi: 10.1097/BOR.0b013e3282f05cc2. Curr Opin Rheumatol. 2007. PMID: 17917547 Review.
In other patients, congenital neutropenia is not an isolated finding but is associated with other abnormalities, in particular, lymphoid immunodeficiency and pigmentation defects such as Chediak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pu …
In other patients, congenital neutropenia is not an isolated finding but is associated with other abnormalities, in particular, lymphoid imm …
Successful haploidentical bone marrow transplantation in Griscelli syndrome type 2 with non-busulfan-based regimen and post-transplantation cyclophosphamide: a case report and review of the literature.
Yamada S, Maruyama Y, Saito S, Komori K, Morokawa H, Okura E, Hirabayashi K, Furui Y, Kurata T, Nishioka M, Fukuyama T, Sakashita K, Nakazawa Y. Yamada S, et al. Pediatr Hematol Oncol. 2024 May;41(4):296-300. doi: 10.1080/08880018.2023.2273880. Epub 2023 Oct 31. Pediatr Hematol Oncol. 2024. PMID: 37906298 Review. No abstract available.
[Defect in lytic granule exocytosis: several causes, a same effect].
Ménasché G, Ménager M, Le Deist F, Fischer A, de Saint Basile G. Ménasché G, et al. Med Sci (Paris). 2006 Aug-Sep;22(8-9):733-8. doi: 10.1051/medsci/20062289733. Med Sci (Paris). 2006. PMID: 16962048 Free article. Review. French.
Defect in the granule dependent cytotoxic function of lymphocytes result from perforin mutation in familial hemophagocytic lymphohistiocytosis type 2, from Munc13-4 (UNC13D) mutation in familial hemophagocytic lymphohistiocytosis type 3, from Rab27a mutation in Griscelli …
Defect in the granule dependent cytotoxic function of lymphocytes result from perforin mutation in familial hemophagocytic lymphohistiocytos …