グリセリ症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/05/22 17:40:07」(JST)
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Griscelli syndrome |
Classification and external resources |
OMIM |
214450 607624 609227 |
DiseasesDB |
32776 34039 |
Griscelli syndrome is a rare autosomal recessive[1] disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood.
Contents
- 1 Types
- 2 Presentation
- 3 Pathophysiology
- 4 Eponym
- 5 References
- 6 External links
Types
Griscelli syndrome is a disorder of melanosome transport, and divided into several types[2]:866:
OMIM |
Name |
Gene |
214450 |
Griscelli syndrome type 1 (Elejalde syndrome) |
MYO5A |
607624 |
Griscelli syndrome type 2 (Partial albinism with immunodeficiency) |
RAB27A |
609227 |
Griscelli syndrome type 3 |
MLPH |
Presentation
Griscelli syndrome is defined by the characteristic hypopigmentation, with frequent pyogenic infection, hepatosplenomegaly, neutropenia, thrombocytopenia, and immunodeficiency. Very often there is also impaired natural killer cell activity, absent delayed-type hypersensitivity and a poor cell proliferation response to antigenic challenge. This may be caused by the loss of three different genes, each of which has different additional effects, resulting in three types of syndrome. Its Inheritance is autosomal recessive.
Examination of the hair in this syndrome may be useful. Under light microscopy, these hairs exhibit bigger and irregular melanin granules, distributed mainly near the medulla. Under polarized light microscopy, the hairs appear monotonously white.[3]
Pathophysiology
Griscelli syndrome has an autosomal recessive pattern of inheritance.
In melanocytes, melanosomes (vesicles containing the pigment melanin) are transported on microtubules. They are then bound by Rab27A 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 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 cells (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 after Claude Griscelli, professor of pediatrics at Hôpital des Enfants-Malades in Paris (France).[4][5]
References
- ^ Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M (1978). "A syndrome associating partial albinism and immunodeficiency". Am. J. Med. 65 (4): 691–702. doi:10.1016/0002-9343(78)90858-6. PMID 707528.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Valente NY, Machado MC, Boggio P, Alves AC, Bergonse FN, Casella E, Vasconcelos DM, Grumach AS, de Oliveira ZN (2006) Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes. Clinics (Sao Paulo) 61(4):327-332.
- ^ synd/3872 at Who Named It?
- ^ Griscelli C, Prunieras M (1978). "Pigment dilution and immunodeficiency: a new syndrome". Int. J. Dermatol. 17 (10): 788–91. doi:10.1111/j.1365-4362.1978.tb05980.x. PMID 730432.
External links
- Griscelli syndrome type 1 at NIH's Office of Rare Diseases OMIM: 214450
- Griscelli syndrome type 2 at NIH's Office of Rare Diseases OMIM: 607624
- Griscelli syndrome type 3 at NIH's Office of Rare Diseases OMIM: 609227
Pigmentation disorders/Dyschromia (L80–L81, 709.0)
|
|
Hypo-/
leucism |
Loss of melanocytes |
vitiligo: |
- Quadrichrome vitiligo
- Vitiligo ponctué
|
|
syndromic |
- Alezzandrini syndrome
- Vogt–Koyanagi–Harada syndrome
|
|
melanocyte development: |
- Piebaldism
- Waardenburg syndrome
- Tietz syndrome
|
|
|
Loss of melanin/
amelanism |
albinism: |
- Oculocutaneous albinism
- Ocular albinism
|
|
melanosome transfer: |
- Hermansky–Pudlak syndrome
- Chédiak–Higashi syndrome
- Griscelli syndrome
- Elejalde syndrome
- Griscelli syndrome type 2
- Griscelli syndrome type 3
|
|
other: |
- Cross syndrome
- ABCD syndrome
- Albinism–deafness syndrome
- Idiopathic guttate hypomelanosis
- Phylloid hypomelanosis
- Progressive macular hypomelanosis
|
|
|
Leukoderma w/o
hypomelanosis |
- Vasospastic macule
- Woronoff's ring
- Nevus anemicus
|
|
Ungrouped |
- Nevus depigmentosus
- Postinflammatory hypopigmentation
- Pityriasis alba
- Vagabond's leukomelanoderma
- Yemenite deaf-blind hypopigmentation syndrome
- Wende–Bauckus syndrome
|
|
|
Hyper- |
Melanin/
Melanosis/
Melanism |
Reticulated |
- Dermatopathia pigmentosa reticularis
- Pigmentatio reticularis faciei et colli
- Reticulate acropigmentation of Kitamura
- Reticular pigmented anomaly of the flexures
- Naegeli–Franceschetti–Jadassohn syndrome
- Dyskeratosis congenita
- X-linked reticulate pigmentary disorder
- Galli–Galli disease
- Revesz syndrome
|
|
Diffuse/
circumscribed |
- Lentigo/Lentiginosis: Lentigo simplex
- Liver spot
- Centrofacial lentiginosis
- Generalized lentiginosis
- Inherited patterned lentiginosis in black persons
- Ink spot lentigo
- Lentigo maligna
- Mucosal lentigines
- Partial unilateral lentiginosis
- PUVA lentigines
- Melasma
- Erythema dyschromicum perstans
- Lichen planus pigmentosus
- Café au lait spot
- Poikiloderma (Poikiloderma of Civatte
- Poikiloderma vasculare atrophicans)
- Riehl melanosis
|
|
Linear |
- Incontinentia pigmenti
- Scratch dermatitis
- Shiitake mushroom dermatitis
|
|
Other/ungrouped |
- Acanthosis nigricans
- Freckle
- Familial progressive hyperpigmentation
- Pallister–Killian syndrome
- Periorbital hyperpigmentation
- Photoleukomelanodermatitis of Kobori
- Postinflammatory hyperpigmentation
- Transient neonatal pustular melanosis
|
|
|
Other
pigments |
iron: |
- Hemochromatosis
- Iron metallic discoloration
- Pigmented purpuric dermatosis
- Schamberg disease
- Majocchi's disease
- Gougerot–Blum syndrome
- Doucas and Kapetanakis pigmented purpura/Eczematid-like purpura of Doucas and Kapetanakis
- Lichen aureus
- Angioma serpiginosum
- Hemosiderin hyperpigmentation
|
|
other metals: |
- Argyria
- Chrysiasis
- Arsenic poisoning
- Lead poisoning
- Titanium metallic discoloration
|
|
other: |
- Carotenosis
- Tattoo
- Tar melanosis
|
|
|
|
Dyschromatoses |
- Dyschromatosis symmetrica hereditaria
- Dyschromatosis universalis hereditaria
|
|
|
|
noco (i/b/d/q/u/r/p/m/k/v/f)/cong/tumr (n/e/d), sysi/epon
|
proc, drug (D2/3/4/5/8/11)
|
|
|
|
Inherited disorders of trafficking / vesicular transport proteins
|
|
Vesicle formation |
Lysosome/Melanosome: |
- HPS1-HPS7
- Hermansky–Pudlak syndrome
- LYST
|
|
COPII: |
- SEC23A
- Cranio–lenticulo–sutural dysplasia
|
|
|
|
APC: |
- AP1S2
- X-linked intellectual disability
- AP3B1
- Hermansky–Pudlak syndrome 2
- AP4M1
|
|
|
Rab |
|
|
Cytoskeleton |
Myosin: |
|
|
Microtubule: |
- SPG4
- Hereditary spastic paraplegia 4
|
|
Kinesin: |
- KIF5A
- Hereditary spastic paraplegia 10
|
|
Spectrin: |
|
|
|
Vesicle fusion |
Synaptic vesicle: |
- SNAP29
- STX11
- Hemophagocytic lymphohistiocytosis 4
|
|
Caveolae: |
- CAV1
- Congenital generalized lipodystrophy 3
- CAV3
- Limb-girdle muscular dystrophy 2B, Long QT syndrome 9
|
|
Vacuolar protein sorting: |
|
|
- DYSF
- Distal muscular dystrophy
|
|
|
See also vesicular transport proteins
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
UpToDate Contents
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English Journal
- A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis?
- Grandin V1, E Sepulveda F2, Lambert N1, Al Zahrani M3, Al Idrissi E3, Al-Mousa H4, Almanjomi F3, Al-Ghonaium A4, K Habazi M3, A Alghamdi H3, Picard C1,5,6, Bole-Feysot C7, Nitschke P8, Ménasché G2, de Saint Basile G1,2.
- Human mutation.Hum Mutat.2017 Jun 6. doi: 10.1002/humu.23274. [Epub ahead of print]
- PMID 28585352
- Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.
- Patiroglu T1, Akar HH, Unal E, Ozdemir MA, Karakukcu M.
- Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation.Exp Clin Transplant.2017 Jun;15(3):337-343. doi: 10.6002/ect.2015.0233. Epub 2016 Mar 21.
- PMID 27001505
- Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.
- Yeetong P1, Suphapeetiporn K2,3, Shotelersuk V4,5.
- World journal of pediatrics : WJP.World J Pediatr.2017 May 9. doi: 10.1007/s12519-017-0037-2. [Epub ahead of print]
- PMID 28484936
Japanese Journal
- メラニン輸送の分子メカニズム解明とその応用 (シンポジウム 光老化の予防と対策最前線)
- Rab27Aエフェクター分子群によるメラノソーム輸送の分子メカニズムの解明
- Neurological presentation of Griscelli syndrome : Obstructive hydrocephalus without haematological abnormalities or organomegaly
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