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Griscelli syndrome

MedGen UID:
585090
•Concept ID:
C0398794
•
Disease or Syndrome
Synonyms: Ch??diak-Higashi-like syndrome; ChC)diak-Higashi-like syndrome; Chediak-Higashi-like syndrome; Chédiak-Higashi-like syndrome; Griscelli disease; Griscelli syndrome with immunodeficiency; Griscelli-Pruni??ras syndrome; Griscelli-PruniC)ras syndrome; Griscelli-Pruniéras syndrome; Hypopigmentation-immunodeficiency disease; Partial albinism with immunodeficiency; Partial albinism-immunodeficiency syndrome; partial albinism-immunodeficiency syndrome
SNOMED CT: Griscelli syndrome (37548006); Chediak-Higashi-like syndrome (37548006); Griscelli syndrome with immunodeficiency (37548006); Partial albinism with immunodeficiency (37548006); Hypopigmentation-immunodeficiency disease (37548006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018306
OMIM® Phenotypic series: PS214450
Orphanet: ORPHA381

Definition

Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGriscelli syndrome

Professional guidelines

PubMed

Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Brauer N, Maruta Y, Lisci M, Strege K, Oschlies I, Nakamura H, Böhm S, Lehmberg K, Brandhoff L, Ehl S, Parvaneh N, Klapper W, Fukuda M, Griffiths GM, Hennies HC, Niehues T, Ammann S
Front Immunol 2023;14:1151166. Epub 2023 Jun 14 doi: 10.3389/fimmu.2023.1151166. PMID: 37388727Free PMC Article
Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.
Zamani R, Shahkarami S, Rezaei N
Allergol Immunopathol (Madr) 2021;49(2):178-190. Epub 2021 Mar 1 doi: 10.15586/aei.v49i2.61. PMID: 33641308
Treatment of the X-linked lymphoproliferative, Griscelli and Chédiak-Higashi syndromes by HLH directed therapy.
Trottestam H, Beutel K, Meeths M, Carlsen N, Heilmann C, Pasić S, Webb D, Hasle H, Henter JI
Pediatr Blood Cancer 2009 Feb;52(2):268-72. doi: 10.1002/pbc.21790. PMID: 18937330

Suggested Reading

PubMed

Genetics of Skin Cancer (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389333
Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389258

Recent clinical studies

Etiology

Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.
Banushi B, Simpson F
Cells 2022 Nov 21;11(22) doi: 10.3390/cells11223702. PMID: 36429129Free PMC Article
The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.
Bowman SL, Bi-Karchin J, Le L, Marks MS
Traffic 2019 Jun;20(6):404-435. doi: 10.1111/tra.12646. PMID: 30945407Free PMC Article
Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience.
Kuskonmaz B, Ayvaz D, Gokce M, Ozgur TT, Okur FV, Cetin M, Tezcan I, Uckan Cetinkaya D
Pediatr Transplant 2017 Nov;21(7) Epub 2017 Aug 23 doi: 10.1111/petr.13040. PMID: 28836324
Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.
Sieni E, Cetica V, Mastrodicasa E, Pende D, Moretta L, Griffiths G, Aricò M
Cell Mol Life Sci 2012 Jan;69(1):29-40. Epub 2011 Oct 12 doi: 10.1007/s00018-011-0835-y. PMID: 21990010Free PMC Article
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article

Diagnosis

Griscelli Syndrome Type 1: Hair Microscopy Clinches the Diagnosis.
Gupta J, Sharma P, Ameta P, Mathur DK, Gupta A
Indian J Pediatr 2023 Feb;90(2):195-196. Epub 2022 Dec 13 doi: 10.1007/s12098-022-04422-7. PMID: 36512299
Griscelli syndrome type 2.
Gailson T, Pandit S, Chandrasekaran S
QJM 2020 Feb 1;113(2):137. doi: 10.1093/qjmed/hcz144. PMID: 31199490
Griscelli Syndrome Type 3: Two New Cases and Review of the Literature.
Nouriel A, Zisquit J, Helfand AM, Anikster Y, Greenberger S
Pediatr Dermatol 2015 Nov-Dec;32(6):e245-8. Epub 2015 Sep 4 doi: 10.1111/pde.12663. PMID: 26337734
Mimics and rare presentations of pediatric demyelination.
O'Mahony J, Shroff M, Banwell B
Neuroimaging Clin N Am 2013 May;23(2):321-36. Epub 2013 Jan 23 doi: 10.1016/j.nic.2012.12.010. PMID: 23608693
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article

Therapy

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
Pediatr Hematol Oncol 2024 May;41(4):296-300. Epub 2023 Oct 31 doi: 10.1080/08880018.2023.2273880. PMID: 37906298
The first case of Wickerhamomyces anomalus fungemia in Iran in an immuneodeficient child, a review on the literature.
Aboutalebian S, Mirhendi H, Eshaghi H, Nikmanesh B, Charsizadeh A
J Mycol Med 2023 Mar;33(1):101351. Epub 2022 Nov 12 doi: 10.1016/j.mycmed.2022.101351. PMID: 36413850
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
Pan Afr Med J 2018;29:75. Epub 2018 Jan 25 doi: 10.11604/pamj.2018.29.75.12353. PMID: 29875956Free PMC Article
Hemophagocytic lymphohistiocytosis in infants: a single center experience from India.
Ramzan M, Yadav SP, Kharya G, Chinnabhandar V, Enteserian M, Henter JI, Sachdeva A
Pediatr Hematol Oncol 2014 Apr;31(3):285-92. Epub 2014 Jan 2 doi: 10.3109/08880018.2013.862754. PMID: 24383954
Development of in situ melanoma after allogeneic bone marrow transplantation in Griscelli syndrome type II.
Köse O, Kürekçi AE, Safali M, Akin R, Köseoğlu V, Tezcan I
Pediatr Transplant 2007 Nov;11(7):792-5. doi: 10.1111/j.1399-3046.2007.00758.x. PMID: 17910659

Prognosis

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
Scand J Immunol 2021 Jun;93(6):e13034. Epub 2021 Mar 20 doi: 10.1111/sji.13034. PMID: 33660295
Griscelli syndrome type 2.
Gailson T, Pandit S, Chandrasekaran S
QJM 2020 Feb 1;113(2):137. doi: 10.1093/qjmed/hcz144. PMID: 31199490
Griscelli syndrome: A rare disorder.
Sahu C, Netam SS, Bhutada BR, Jaiswal SJ
Neurol India 2017 Jul-Aug;65(4):869-870. doi: 10.4103/neuroindia.NI_762_16. PMID: 28681765
Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis.
Saini AG, Nagaraju S, Sahu JK, Rawat A, Vyas S, Singhi P
Neurology 2014 Apr 8;82(14):e122-3. doi: 10.1212/WNL.0000000000000288. PMID: 24711539
Griscelli syndrome.
Emanuel PO, Sternberg LJ, Phelps RG
Skinmed 2007 May-Jun;6(3):147-9. doi: 10.1111/j.1540-9740.2007.05783.x. PMID: 17483661

Clinical prediction guides

Melanogenesis Connection with Innate Immunity and Toll-Like Receptors.
Koike S, Yamasaki K
Int J Mol Sci 2020 Dec 21;21(24) doi: 10.3390/ijms21249769. PMID: 33371432Free PMC Article
Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden.
Meeths M, Horne A, Sabel M, Bryceson YT, Henter JI
Pediatr Blood Cancer 2015 Feb;62(2):346-352. Epub 2014 Nov 8 doi: 10.1002/pbc.25308. PMID: 25382070
'Should I stay or should I go?': myosin V function in organelle trafficking.
Desnos C, Huet S, Darchen F
Biol Cell 2007 Aug;99(8):411-23. doi: 10.1042/BC20070021. PMID: 17635110
The roles of Rab27 and its effectors in the regulated secretory pathways.
Izumi T, Gomi H, Kasai K, Mizutani S, Torii S
Cell Struct Funct 2003 Oct;28(5):465-74. doi: 10.1247/csf.28.465. PMID: 14745138
Rab27a: A key to melanosome transport in human melanocytes.
Bahadoran P, Aberdam E, Mantoux F, Buscà R, Bille K, Yalman N, de Saint-Basile G, Casaroli-Marano R, Ortonne JP, Ballotti R
J Cell Biol 2001 Feb 19;152(4):843-50. doi: 10.1083/jcb.152.4.843. PMID: 11266474Free PMC Article

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