Partial albinism with immunodeficiency: Griscelli syndrome: Report of a case and review of the literature

Mancini, Anthony J.; Chan, Lawrence S.; Paller, Amy S.

doi:10.1016/s0190-9622(98)70568-7

Cited by 120 publications

(111 citation statements)

References 20 publications

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“…Hermansky-Pudlak syndrome is a disorder of ocular and cutaneous albinism, bleeding diathesis and deposition of ceroid lipofuscin in various organs. However, giant leukocytic granules are the only major differentiating point between Griscelli and CHS as seen only in CHS [2,3,20].…”

Section: Discussionmentioning

confidence: 99%

Chediak–Higashi Syndrome Presented as Accelerated Phase: Case Report and Review of the Literature

Bouatay

Hizem

Tej

et al. 2014

Indian J Hematol Blood Transfus

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Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, recurrent pyogenic infections (skin, mucosa and respiratory system), and neurologic deficit. The hallmark of this syndrome is the presence of abnormal intracytoplasmic giant granules in all granule containing cells including leukocytes in blood and bone marrow. A majority (85 %) of patients with CHS develop an accelerated phase consisting of a lymphoproliferative syndrome with hemophagocytosis and infiltration of most tissues. This phase is characterized by fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia and neurological abnormalities. In this paper, we report a case of CHS presented as accelerated phase in a 9-month-old girl child.

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Section: Discussionmentioning

confidence: 99%

Chediak–Higashi Syndrome Presented as Accelerated Phase: Case Report and Review of the Literature

Bouatay

Hizem

Tej

et al. 2014

Indian J Hematol Blood Transfus

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“…1,5 In Elejalde syndrome, recurrent accelerated phases of the syndrome have not been reported. 9 Mutations on chromosome 15q21 in the myosin Va gene and in the RAB27A gene have been identified in Griscelli syndrome. 2,3,10 Myosin-Va and RAB27A are believed to participate in organelle transport 10,11 and might explain the accumulation of melanosomes in the melanocytes in Griscelli syndrome.…”

Section: Discussionmentioning

confidence: 99%

Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT

Schuster

Stachel

Schmid

et al. 2001

Bone Marrow Transplant

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“…Griscelli syndrome is a rare autosomal recessive disorder characterized by pigmentary dilution of hairs, skin and variable cellular immunodeficiency [1]. It was first described by Griscelli and Pruniera in 1978 [2].…”

Section: Introductionmentioning

confidence: 99%

“…It was first described by Griscelli and Pruniera in 1978 [2]. Common age of diagnosis is between 4 months to 7 years of age [1]. It is classified into three types.…”

Section: Introductionmentioning

confidence: 99%

Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistocytosis a Rare and Lethal Disorder

Meena

2013

Int J Clin Pediatr

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A two and half years old male child was admitted with silvery grey hair, recurrent chest infection, ear discharge, hepatosplenomegaly, pancytopenia and hemophagocytosis in bone marrow. Light microscopy of hair shaft showed large unevenly distributed melanin pigment. Skin biopsy showed large coarse aggregates of melanin and the basal layer of epidermis showed reactivity with Masson's fontana stain. Griscelli syndrome type 2 was made as diagnosis which was confirmed by mutation study which showed nonsense mutation of Exon 6 of RAB 27A gene. The child was in accelerated phase and succumbed to death.

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Partial albinism with immunodeficiency: Griscelli syndrome: Report of a case and review of the literature

Cited by 120 publications

References 20 publications

Chediak–Higashi Syndrome Presented as Accelerated Phase: Case Report and Review of the Literature

Chediak–Higashi Syndrome Presented as Accelerated Phase: Case Report and Review of the Literature

Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT

Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistocytosis a Rare and Lethal Disorder

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