Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome

Pïcard, Capucine; Mellouli, Fethi; Duprez, Renan; Chédeville, Gaëlle; Neven, Bénédicte; Fraïtag, Sylvie; Delaunay, J.; Deist, Françoise Le; Fischer, Alain; Blanche, Stéphane; Bodemer, Christine; Gessain, Antoine; Casanova, Jean‐Laurent; Béjaoui, Mohamed

doi:10.1007/s00431-006-0107-2

Cited by 37 publications

(33 citation statements)

References 27 publications

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“…We previously hypothesized that this peculiar KS form may be related to an early and massive KSHV infection in genetically susceptible individuals [14]. In some classical KS in children, diverse genetic defects have been reported [59], [60], [61]. Similar studies need to be performed in children suffering from endemic KS in central Africa.…”

Section: Discussionmentioning

confidence: 98%

Epidemiology and Genetic Variability of HHV-8/KSHV in Pygmy and Bantu Populations in Cameroon

et al. 2014

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BackgroundKaposi's sarcoma associated herpesvirus (KSHV/HHV-8) is the causal agent of all forms of Kaposi sarcoma. Molecular epidemiology of the variable K1 region identified five major subtypes exhibiting a clear geographical clustering. The present study is designed to gain new insights into the KSHV epidemiology and genetic diversity in Cameroon.Methodology/Principal FindingsBantu and Pygmy populations from remote rural villages were studied. Antibodies directed against latent nuclear antigens (LANA) were detected by indirect immunofluorescence using BC3 cells. Peripheral blood cell DNAs were subjected to a nested PCR amplifying a 737 bp K1 gene fragment. Consensus sequences were phylogenetically analyzed. We studied 2,063 persons (967 females, 1,096 males, mean age 39 years), either Bantus (1,276) or Pygmies (787). The Bantu group was older (42 versus 35 years: P<10−4). KSHV anti-LANA seroprevalence was of 37.2% (768/2063), with a significant increase with age (P<10−4) but no difference according to sex. Seroprevalence, as well as the anti-LANA antibodies titres, were higher in Bantus (43.2%) than in Pygmies (27.6%) (P<10−4), independently of age. We generated 29 K1 sequences, comprising 24 Bantus and five Pygmies. These sequences belonged to A5 (24 cases) or B (five cases) subtypes. They exhibited neither geographical nor ethnic aggregation. A5 strains showed a wide genetic diversity while the B strains were more homogenous and belonged to the B1 subgroup.ConclusionThese data demonstrate high KSHV seroprevalence in the two major populations living in Southern and Eastern Cameroon with presence of mostly genetically diverse A5 but also B K1 subtypes.

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Section: Discussionmentioning

confidence: 98%

Epidemiology and Genetic Variability of HHV-8/KSHV in Pygmy and Bantu Populations in Cameroon

et al. 2014

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“…One patient (P12) had 2 different malignant complications (human herpesvirus 8-associated Kaposi sarcoma and an intracerebral, EBV-related, lymphoproliferative disorder) that were diagnosed at 19 and 23 months of age, respectively (reported in Picard et al 22 ; Table 2). He underwent HSCT with his 9.5/10 HLA-matched father (mismatch of a subtype of HLA-A on allelic HLA typing) after treatment with paclitaxel for Kaposi sarcoma and rituximab (combined with intrathecal infusions of rituximab and methotrexate because of intracranial hypertension) for the B-cell lymphoproliferative disorder.…”

Section: Tumorsmentioning

confidence: 99%

“…3 The condition is caused by hemizygous mutations in the WAS gene (Xp11. [22][23], which encodes the WAS protein (WASp). 4 The latter is expressed exclusively in hematopoietic cells and has a major role in actin polymerization, regulation of cytoskeleton reorganization, signal transduction, and apoptosis.…”

Section: Introductionmentioning

confidence: 99%

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome

Mahlaoui

Pellier

Mignot

et al. 2013

Blood

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Key Points• This study identified a distinct subgroup of WAS patients with an early onset (before the age of 2 years) of severe, lifethreatening manifestations.• HSCT is a curative strategy in this subgroup of patients and should be performed as early in life as possible, even when a fully matched donor is lacking.On the basis of a nationwide database of 160 patients with Wiskott-Aldrich syndrome (WAS), we identified a subset of infants who were significantly more likely to be attributed with an Ochs score of 5 before the age of 2 (n ‫؍‬ 26 of 47 [55%], P ‫؍‬ 2.8 ؋ 10 ؊7 ). A retrospective analysis revealed that these patients often had severe refractory thrombocytopenia (n ‫؍‬ 13), autoimmune hemolytic anemia (n ‫؍‬ 15), and vasculitis (n ‫؍‬ 6). One patient had developed 2 distinct cancers. Hemizygous mutations predictive of the absence of WAS protein were identified in 19 of the 24 tested patients, and the absence of WAS protein was confirmed in all 10 investigated cases. Allogeneic hematopoietic stem cell transplantation (HSCT) was found to be a curative treatment with a relatively good prognosis because it was successful in 17 of 22 patients. Nevertheless, 3 patients experienced significant disease sequelae and 4 patients died before HSCT. Therefore, the present study identifies a distinct subgroup of WAS patients with early-onset, life-threatening manifestations. We suggest that HSCT is a curative strategy in this subgroup of patients and should be performed as early in life as possible, even when a fully matched donor is lacking. (Blood. 2013;121(9):1510-1516)

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“…24,25 Grossman et al 26 reported HHV-8-related HLH in 2 triplets with familial HLH due to perforin gene mutations. HHV-8-related HLH has been also reported in immunosuppressed patients who underwent renal transplantation or rarely, in HIV-negative adults.…”

Section: Discussionmentioning

confidence: 99%

HHV-8-related Hemophagocytic Lymphohistiocytosis in a Boy With XLP Phenotype

Pašić

Ćupić

Lazarević

2012

Journal of Pediatric Hematology/Oncology

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We report a 2.5-year-old boy with an X-linked lymphoproliferative disease (XLP) phenotype who presented with human herpes virus-8 (HHV-8)-related hemophagocytic lymphohistiocytosis (HLH). XLP is a rare primary immunodeficiency characterized by extreme susceptibility to herpes viruses, mainly Epstein-Barr virus (EBV). Approximately 60% of patients with XLP present with fulminant mononucleosis associated with HLH, whereas remaining patients present with hypogammaglobulinemia or lymphoproliferative disease. Most commonly, one of the XLP phenotypes appears after exposure to EBV, but at least 12% of affected individuals developed symptoms without an evidence of EBV infection. Rarely, patients with XLP may present with central nervous system vasculitis or aplastic anemia. HHV-8 is lymphotrophic and it is associated with lymphoproliferative disorders and Kaposi sarcoma in immunodeficient hosts. Kaposi sarcoma rarely occurs in children with well-defined primary immunodeficiency. Also, HHV-8-related HLH was previously reported in 2 siblings with a perforin gene deficiency. Recently, it became evident that besides EBV, other viruses may trigger the symptoms in XLP. We report for the first time HHV-8-related HLH in EBV-negative pediatric patient with an XLP phenotype.

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Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome

Abstract: This observation expands the spectrum of primary immunodeficiencies associated with KS in childhood.

Cited by 37 publications

References 27 publications

Epidemiology and Genetic Variability of HHV-8/KSHV in Pygmy and Bantu Populations in Cameroon

Epidemiology and Genetic Variability of HHV-8/KSHV in Pygmy and Bantu Populations in Cameroon

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome

HHV-8-related Hemophagocytic Lymphohistiocytosis in a Boy With XLP Phenotype

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