U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
  • CN229566 has been replaced by C0398794, showing C0398794

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
Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant).
Durandy A, Breton-Gorius J, Guy-Grand D, Dumez C, Griscelli C
Prenat Diagn 1993 Jan;13(1):13-20. doi: 10.1002/pd.1970130104. PMID: 8446567

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
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
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
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
Familial and acquired hemophagocytic lymphohistiocytosis.
Janka GE
Eur J Pediatr 2007 Feb;166(2):95-109. Epub 2006 Dec 7 doi: 10.1007/s00431-006-0258-1. PMID: 17151879

Diagnosis

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
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
Melanosome transport and regulation in development and disease.
Tian X, Cui Z, Liu S, Zhou J, Cui R
Pharmacol Ther 2021 Mar;219:107707. Epub 2020 Oct 17 doi: 10.1016/j.pharmthera.2020.107707. PMID: 33075361
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
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

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
Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity.
Groß M, Speckmann C, May A, Gajardo-Carrasco T, Wustrau K, Maier SL, Panning M, Huzly D, Agaimy A, Bryceson YT, Choo S, Chow CW, Dückers G, Fasth A, Fraitag S, Gräwe K, Haxelmans S, Holzinger D, Hudowenz O, Hübschen JM, Khurana C, Kienle K, Klifa R, Korn K, Kutzner H, Lämmermann T, Ledig S, Lipsker D, Meeths M, Naumann-Bartsch N, Rascon J, Schänzer A, Seidl M, Tesi B, Vauloup-Fellous C, Vollmer-Kary B, Warnatz K, Wehr C, Neven B, Vargas P, Sepulveda FE, Lehmberg K, Schmitt-Graeff A, Ehl S
J Allergy Clin Immunol 2022 Jan;149(1):388-399.e4. Epub 2021 May 24 doi: 10.1016/j.jaci.2021.05.007. PMID: 34033843
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
Partial albinism with immunodeficiency (Griscelli syndrome).
Klein C, Philippe N, Le Deist F, Fraitag S, Prost C, Durandy A, Fischer A, Griscelli C
J Pediatr 1994 Dec;125(6 Pt 1):886-95. doi: 10.1016/s0022-3476(05)82003-7. PMID: 7996360

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
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
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
Griscelli syndrome.
Malhotra AK, Bhaskar G, Nanda M, Kabra M, Singh MK, Ramam M
J Am Acad Dermatol 2006 Aug;55(2):337-40. doi: 10.1016/j.jaad.2005.11.1056. PMID: 16844525

Clinical prediction guides

High Prevalence of Hemophagocytic Lymphohistiocytosis in Acute Liver Failure of Infancy.
Hadžić N, Molnar E, Height S, Kovács G, Dhawan A, Andrikovics H, Worth A, Gilmour KC
J Pediatr 2022 Nov;250:67-74.e1. Epub 2022 Jul 11 doi: 10.1016/j.jpeds.2022.07.006. PMID: 35835228
Granulomatous Lymphocytic Interstitial Lung Disease in a Spectrum of Pediatric Primary Immunodeficiencies.
Szczawinska-Poplonyk A, Jonczyk-Potoczna K, Mikos M, Ossowska L, Langfort R
Pediatr Dev Pathol 2021 Nov-Dec;24(6):504-512. Epub 2021 Jun 28 doi: 10.1177/10935266211022528. PMID: 34176349
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
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
Rab GTPases, intracellular traffic and disease.
Seabra MC, Mules EH, Hume AN
Trends Mol Med 2002 Jan;8(1):23-30. doi: 10.1016/s1471-4914(01)02227-4. PMID: 11796263

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...