Griscelli syndrome
4505284
215551707
2008-05-28T18:29:48Z
DOI bot
6652755
Citation maintenance. You can [[WP:DOI|use this bot]] yourself! Please [[User:DOI_bot/bugs|report any bugs]].
{{Infobox_Disease |
Name = {{PAGENAME}} |
Image = |
Caption = |
DiseasesDB = 32776 |
DiseasesDB_mult = {{DiseasesDB2|34039}} |
ICD10 = |
ICD9 = |
ICDO = |
OMIM = 214450 |
OMIM_mult = {{OMIM2|607624}} {{OMIM2|609227}} |
MedlinePlus = |
eMedicineSubj = derm |
eMedicineTopic = 926 |
MeshID = |
}}
'''Griscelli syndrome''' is a rare [[autosomal recessive]]<ref name="pmid707528">{{cite journal |author=Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M |title=A syndrome associating partial albinism and immunodeficiency |journal=Am. J. Med. |volume=65 |issue=4 |pages=691–702 |year=1978 |pmid=707528 |doi=}}</ref> disorder characterized by [[albinism]] (hypopigmentation) with [[immunodeficiency]], that usually causes death by early childhood.
==Types==
*Type I Griscelli syndrome -- [[MYO5A]]
*Type II Griscelli syndrome is caused by the knock out of the gene for [[Rab27]]A and is characterised by hypopigmentation and immunodeficiency. Children with this syndrome die with a mean age of 5 years. The only cure is [[Bone marrow transplant|bone-marrow transplantation]]. To date approximately 10 children have received successful bone marrow transplants for type II Griscelli syndrome.
*Type III Griscelli syndrome -- [[melanophilin]], [[MYO5A]]
==Presentation==
Griscelli syndrome is defined by the characteristic hypopigmentation. This may be caused by the loss of three different genes, each of which has different additional effects, resulting in the three types of syndrome.
==Pathophysiology==
[[Image:autorecessive.svg|thumb|right|{{PAGENAME}} has an autosomal recessive pattern of [[inheritance]].]]
In melanocytes, [[melanosomes]] ([[vesicles]] containing the pigment [[melanin]]) are transported on [[microtubules]]. They are then bound by [[Rab27]]A which recruits [[Slac2-a]] and [[myosin]] Va. This complex then transfers the melanosomes from the microtubules to [[actin]] filaments. This transfer is necessary for the transport of melanosomes from the perinuclear area to the cell periphery. The loss of any one of these proteins interrupts melanosome transport and results in the hypopigmentation.
However, these three proteins do not work together in other cells and Rab27A [[Effector (biology)|effectors]] may be 'mix and match' For example the knockout of Rab27 causes the hypopigmentation but also immunodeficiency due to deficiencies in cytotoxic killing activity in [[cytotoxic T cell]]s (something that also depends on [[vesicle]] transport). While, the knockout of myosin Va does not cause immunodeficiency, but it does cause neural defects. Though some neural problems (i.e brain damage) can be seen in Rab27A deficient children, this is thought to be a secondary effect of the immune problems, and not directly due to the lack of Rab27A.
==Eponym==
It is named for Claude Griscelli.<ref>{{WhoNamedIt|synd|3872}}</ref><ref name="pmid730432">{{cite journal |author=Griscelli C, Prunieras M |title=Pigment dilution and immunodeficiency: a new syndrome |journal=Int. J. Dermatol. |volume=17 |issue=10 |pages=788–91 |year=1978 |pmid=730432 |doi=}}</ref>
==References==
{{reflist}}
{{genetic-disorder-stub}}
[[Category:Albinism]]
[[Category:Pediatrics]]
[[Category:Dermatology]]
[[Category:Genetic disorders]]
[[Category:Autosomal recessive disorders]]
[[Category:Rare diseases]]
[[Category:Syndromes]]