Diagnostic and therapeutic caveats in Griscelli syndrome

Castaño-Jaramillo, Lina-Maria; Reyes, Saúl Oswaldo Lugo; Muñoz, Mario E Cruz; Scheffler‐Mendoza, Selma; McKinster, Carola Durán; Yamazaki‐Nakashimada, Marco Antonio; Espinosa-Padilla, S; Gutierrez, Maria Del Mar Saez-de-Ocariz

doi:10.1111/sji.13034

Cited by 14 publications

(31 citation statements)

References 43 publications

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“…Griscelli syndrome is divided into subgroups: GS1 with more neurological findings, GS2 with predominant immunological findings, and GS3 with only hypopigmentation (8). RAB27A deficiency in GS2 can impair NK and T lymphocyte cytotoxicity, resulting in the release of lytic granules and the development of HLH (9).…”

Section: Discussionmentioning

confidence: 99%

Hemophagocytic Lymphohistiocytosis in Children with Griscelli Syndrome Type 2 : Genetic, Laboratory findings and Treatment

Çay

Sezer

Karakulak

et al. 2023

Preprint

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Section: Discussionmentioning

confidence: 99%

Hemophagocytic Lymphohistiocytosis in Children with Griscelli Syndrome Type 2 : Genetic, Laboratory findings and Treatment

Çay

Sezer

Karakulak

et al. 2023

Preprint

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“…However, the presence in the blood smear of giant intracytoplasmic granules in leucocytes is unique to Chédiak-Higashi syndrome and differentiates it from the other syndromes [ 10 ]. Elejalde syndrome, also considered a part of GS1 by most authors [ 1 ], was linked to important ophthalmological alterations [ 1 ].…”

Section: Discussionmentioning

confidence: 99%

“…Griscelli syndrome (GS) is a rare recessive autosomal disease that involves hypopigmentation of the hair and the skin, immunodeficiency with susceptibility to hemophagocytic lymphohistiocytosis (HLH), and neurological features [ 1 ]. While there are currently three subtypes described according to the genes involved in the genetic defect, only GS type 1 (GS1) is characterized by primary neurological impairments, and only GS type 2 (GS2) is described to involve immunological deficiency with associated HLH [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Hemiparesis Revealing a Unique Neurological Hemophagocytic Lymphohistiocytosis in a Patient With Griscelli Syndrome Type 2

Moueqqit¹,

Ayad²,

Benhachem³

et al. 2022

Cureus

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Griscelli syndrome (GS) is a rare genetic disorder that encompasses three different subtypes (GS type 1 (GS1), GS type 2 (GS2), and GS type 3 (GS3)), in which isolated neurological manifestations without immune system implications are typically seen in GS1, while neurological involvements in GS2 should be attributed to the macrophage and lymphocyte invasion of the central nervous system (CNS), under associated hemophagocytic lymphohistiocytosis (HLH). The presence of the clinical, biological, and hematologic features of HLH help explain the neurological defects that GS2 patients unusually present. In our case report, however, we attempt to highlight an uncommon presentation of GS2 involving a hemiparesis, along which we did not have any clinical or biological features of HLH. We also collect and evaluate similar published cases that feature this problem of explaining the neurological manifestations among GS2 patients.

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“…A GS2 patient with isolated CNS-HLH presenting with developmental regression, seizures, and eventually status epilepticus has been described (193). Other cases of GS2 have been reported with neurological involvement in the form of encephalopathy, headache and tonsillar herniation, focal seizures, multifocal or diffuse white matter lesions, and pathological CSF (38)(39)(40). An atypical case of GS2 without hypopigmentation describes a 14-year old male that presented with myoclonus, dysmetria, dysarthria, ataxia, fever, and pancytopenia (37).…”

Section: Familial Hemophagocytic Lymphohistiocytosis-related Disordersmentioning

confidence: 99%

Neuroinflammation Associated With Inborn Errors of Immunity

Lindahl

Bryceson

2022

Front. Immunol.

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The advent of high-throughput sequencing has facilitated genotype-phenotype correlations in congenital diseases. This has provided molecular diagnosis and benefited patient management but has also revealed substantial phenotypic heterogeneity. Although distinct neuroinflammatory diseases are scarce among the several thousands of established congenital diseases, elements of neuroinflammation are increasingly recognized in a substantial proportion of inborn errors of immunity, where it may even dominate the clinical picture at initial presentation. Although each disease entity is rare, they collectively can constitute a significant proportion of neuropediatric patients in tertiary care and may occasionally also explain adult neurology patients. We focus this review on the signs and symptoms of neuroinflammation that have been reported in association with established pathogenic variants in immune genes and suggest the following subdivision based on proposed underlying mechanisms: autoinflammatory disorders, tolerance defects, and immunodeficiency disorders. The large group of autoinflammatory disorders is further subdivided into IL-1β-mediated disorders, NF-κB dysregulation, type I interferonopathies, and hemophagocytic syndromes. We delineate emerging pathogenic themes underlying neuroinflammation in monogenic diseases and describe the breadth of the clinical spectrum to support decisions to screen for a genetic diagnosis and encourage further research on a neglected phenomenon.

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Diagnostic and therapeutic caveats in Griscelli syndrome

Cited by 14 publications

References 43 publications

Hemophagocytic Lymphohistiocytosis in Children with Griscelli Syndrome Type 2 : Genetic, Laboratory findings and Treatment

Hemophagocytic Lymphohistiocytosis in Children with Griscelli Syndrome Type 2 : Genetic, Laboratory findings and Treatment

Hemiparesis Revealing a Unique Neurological Hemophagocytic Lymphohistiocytosis in a Patient With Griscelli Syndrome Type 2

Neuroinflammation Associated With Inborn Errors of Immunity

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