Kaposi Sarcoma of Childhood: Inborn or Acquired Immunodeficiency to Oncogenic HHV‐8

Jackson, Carolyn C.; Dickson, Mark A.; Sadjadi, Mahan; Gessain, Antoine; Abel, Laurent; Jouanguy, Emmanuelle; Casanova, Jean‐Laurent

doi:10.1002/pbc.25779

Cited by 48 publications

(39 citation statements)

References 78 publications

(177 reference statements)

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“…end-stage AIDS, HIV-associated pediatric KS, and KS associated with immune reconstitution inflammatory syndrome (IRIS) [5]. Current evidence indicates that pediatric KS, regardless of the epidemiologic variant, is different from adult KS with an increased risk for disseminated and progressive disease [6]. The wide clinicopathological spectrum of KS suggests that KS does not represent a single disease.…”

Section: Introductionmentioning

confidence: 99%

Diagnosis and Treatment of Kaposi Sarcoma

2017

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Kaposi Sarcoma (KS) is the most common neoplasm of people living with HIV today. In Sub-Saharan Africa KS is among the most common cancers in men, overall. Not only HIV+ individuals present with KS; any immune compromised person infected with Kaposi Sarcoma-associated herpesvirus (KSHV) or human herpesvirus 8 is at risk: the elderly, children in KSHV-endemic areas, and transplant recipients. KS diagnosis is based on detection of the viral protein LANA in the biopsy, but not all cases of KS are the same or will respond to the same therapy. Standard KS therapy has not changed in 20 years, but newer modalities are on the horizon and will be discussed.

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Section: Introductionmentioning

confidence: 99%

Diagnosis and Treatment of Kaposi Sarcoma

2017

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“…This study was the first to investigate why only some HAV-infected individuals develop FVH. However, given the incidence of the disease, the allele frequency in the general population is too high to be compatible with the hypothesis of single-gene IEI, as previously reported in other severe viral diseases (Byun et al 2013;Ciancanelli et al 2015Ciancanelli et al , 2016Jong et al 2018a, b;Hernandez et al 2018Hernandez et al , 2019Jackson et al 2016;Tangye and Latour 2020;Zhang and Casanova 2015;Zhang et al 2018Zhang et al , 2019Lafaille et al 2012Lafaille et al , 2015Latour and Fischer 2019). In 2014, a second study was performed on a cohort of ten adult patients with acute liver injury or failure due to HAV.…”

Section: Genetic Studies In Humansmentioning

confidence: 82%

“…Conversely, reports of rare multiplex and/or consanguineous families have suggested a possible contribution of inborn errors of immunity (IEI) (Durst et al 2001;Yalniz et al 2005;Yoshida et al 2017). Moreover, single-gene IEI have been found to underlie other severe, isolated viral infections, such as herpes simplex virus encephalitis, attenuated live measles and yellow fever vaccine diseases, Kaposi sarcoma, severe influenza pneumonitis, epidermodysplasia verruciformis, and fulminant EBV disease (Byun et al 2013;Ciancanelli et al 2015Ciancanelli et al , 2016Jong et al 2018a, b;Hernandez et al 2018Hernandez et al , 2019Jackson et al 2016;Tangye and Latour 2020;Zhang and Casanova 2015;Zhang et al 2018Zhang et al , 2019Lafaille et al 2012Lafaille et al , 2015Latour and Fischer 2019). These observations suggest that FVH may be caused by a liver IEI to viruses.…”

Section: Introductionmentioning

confidence: 99%

Human genetic basis of fulminant viral hepatitis

Jouanguy

2020

Hum Genet

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In rare cases, hepatitis A virus (HAV) and hepatitis B virus (HBV) can cause fulminant viral hepatitis (FVH), characterized by massive hepatocyte necrosis and an inflammatory infiltrate. Other viral etiologies of FVH are rarer. FVH is life-threatening, but the patients are typically otherwise healthy, and normally resistant to other microbes. Only a small minority of infected individuals develop FVH, and this is the key issue to be addressed for this disease. In mice, mouse hepatitis virus 3 (MHV3) infection is the main model for dissecting FVH pathogenesis. Susceptibility to MHV3 differs between genetic backgrounds, with high and low mortality in C57BL6 and A/J mice, respectively. FVH pathogenesis in mice is related to uncontrolled inflammation and fibrinogen deposition. In humans, FVH is typically sporadic, but rare familial forms also exist, suggesting that there may be causal monogenic inborn errors. A recent study reported a single-gene inborn error of human immunity underlying FVH. A patient with autosomal recessive complete IL-18BP deficiency was shown to have FVH following HAV infection. The mechanism probably involves enhanced IL-18-and IFN-γ-dependent killing of hepatocytes by NK and CD8 T cytotoxic cells. Proof-of-principle that FVH can be genetic is important clinically, for the affected patients and their families, and immunologically, for the study of immunity to viruses in the liver. Moreover, the FVH-causing IL18BP genotype suggests that excessive IL-18 immunity may be a general mechanism underlying FVH, perhaps through the enhancement of IFN-γ immunity. (2013) Inherited human OX40 deficiency underlying classic Kaposi sarcoma in childhood. J Exp Med 210:1743-1759

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“…Human herpes virus-8 (HHV-8), also designated as KS-associated herpes virus (KSHV), is the causative agent for all epidemiological forms of KS [Chang et al, 1994]. It is currently classified under four epidemiologic forms and represents an inborn or acquired immunodeficiency to oncogenic HHV-8 [Jackson et al, 2016]. Classic KS primarily affects elderly men between the ages of 60–70 years of Eastern European and Mediterranean origin, typically presenting with indolent and chronic cutaneous plaques and nodules.…”

Section: Discussionmentioning

confidence: 99%

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34‐q36.3 heterozygous terminal deletion

Jackson

Lefèvre‐Utile²,

Guimier

et al. 2017

American J of Med Genetics Pt A

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Chromosome 7 germline macrodeletions have been implicated in human congenital malformations and developmental delays. We herein report a novel heterozygous macrodeletion of 7q34-q36.3 in a 16-year-old girl originally from West Indies. Similar to previously reported cases of germline chromosome 7q terminal deletions, our patient has dental malposition, and developmental (growth and intellectual) delay. Novel phenotypic features include endemic Kaposi sarcoma, furrowed tongue, thoracolumbar scoliosis, and mild mitral valve dysplasia. The occurrence of human herpes virus 8-driven Kaposi sarcoma, in a child otherwise normally resistant to other infectious agents and without any other tumoral lesion, points to a very selective immunodeficiency. While defects in organogenesis have been described with such macrodeletions, this is the first report of immunodeficiency and cancer predisposition.

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Kaposi Sarcoma of Childhood: Inborn or Acquired Immunodeficiency to Oncogenic HHV‐8

Cited by 48 publications

References 78 publications

Diagnosis and Treatment of Kaposi Sarcoma

Diagnosis and Treatment of Kaposi Sarcoma

Human genetic basis of fulminant viral hepatitis

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34‐q36.3 heterozygous terminal deletion

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