HHV-8–associated Kaposi sarcoma in a child with IFNγR1 deficiency

Camcioğlu, Yıldız; Pïcard, Capucine; Lacoste, Vincent; Dupuis, Stéphanie; Akçakaya, Necla; Çokura, Haluk; Kaner, Gültekin; Demirkesen, Cüyan; Plancoulaine, Sabine; Émile, Jean-François; Gessain, Antoine; Casanova, Jean‐Laurent

doi:10.1016/j.jpeds.2003.11.012

Cited by 94 publications

(80 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…It is also somewhat surprising that PID patients with IL-12/ IL-23 defects do not seem more susceptible to viruses (42,78,85,96), while IFN-␥R-deficient patients show only a moderate incidence of viral infections (13,34,78). In contrast, patients with homozygous mutations in STAT-1 (and STAT-5) are highly vulnerable to viruses, seemingly as a consequence of impaired responses to type I IFN (35,36,58).…”

Section: Susceptibility To Viral Infectionsmentioning

confidence: 99%

“…In contrast, patients with homozygous mutations in STAT-1 (and STAT-5) are highly vulnerable to viruses, seemingly as a consequence of impaired responses to type I IFN (35,36,58). Again in contrast to murine models (109), in humans the antiviral role of IFN-␥ seems to be redundant (except perhaps against CMV and human herpesvirus 8) (13,34,78), IL-12 being entirely redundant, since patients with IL-12R␤1 and IL-12p40 subunit deficiencies do not present abnormal susceptibilities to viral infections (42,78,85).…”

Section: Susceptibility To Viral Infectionsmentioning

confidence: 99%

See 1 more Smart Citation

Immunity to Microbes: Lessons from Primary Immunodeficiencies

Carneiro‐Sampaio

Coutinho

2007

Infect Immun

View full text Add to dashboard Cite

Section: Susceptibility To Viral Infectionsmentioning

confidence: 99%

Section: Susceptibility To Viral Infectionsmentioning

confidence: 99%

Immunity to Microbes: Lessons from Primary Immunodeficiencies

Carneiro‐Sampaio

Coutinho

2007

Infect Immun

View full text Add to dashboard Cite

“…4,5 Mutations in genes involved in the IFN-␥ signal cascade also have been identified in primary human tumors, 6 and 1 child with IFNGR1 deficiency developed human herpesvirus 8-associated Kaposi sarcoma. 7 Disseminated mycobacterial infections have been reported in hairy cell leukemia and chronic myelogenous leukemia, as well as advanced HIV infection. 8,9 Therefore, at least some of the pathways that mediate mycobacterial susceptibility also control susceptibility to other infections and malignancies.…”

Section: Introductionmentioning

confidence: 99%

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

Vinh

Patel

Uzel

et al. 2010

Blood

303

306

View full text Add to dashboard Cite

We identified 18 patients with the distinct clinical phenotype of susceptibility to disseminated nontuberculous mycobacterial infections, viral infections, especially with human papillomaviruses, and fungal infections, primarily histoplasmosis, and molds. This syndrome typically had its onset in adulthood (age range, 7-60 years; mean, 31.1 years; median, 32 years) and was characterized by profound circulating monocytopenia (

show abstract

“…Both subgroups show an autosomal recessive (AR) inheritance. Several reports concerning patients with complete IFN-γ R1 deficiency have been published before (19)(20)(21)(22)(23)(24)(25)(26)(27).…”

Section: Introductionmentioning

confidence: 99%

Two Patients with Complete Defects in Interferon Gamma Receptor-Dependent Signaling

et al. 2007

View full text Add to dashboard Cite

Unusual susceptibility to mycobacterial infections can be caused by deleterious mutations in genes that encode the interferon-γ receptor 1 chain. Such mutations hamper the activation of macrophages by a type 1 immune response and result in enhanced survival of intracellular pathogens. We here report two patients with unusual mycobacterial infections, both diagnosed with homozygous deleterious interferon-γ receptor 1 gene mutations. Patient 1 became ill after Bacillus CalmetteGuérin vaccination at the age of 9 months and died at the age of 18 months. She carried a homozygous C71Y mutation in the extracellular part of the mature interferon-γ receptor 1 protein, resulting in the lack of detectable protein expression and absence of interferon-γ dependent signaling. Patient 2 became ill at the age of 3 years, is still alive at 19 years of age, and has suffered from five successive infection episodes with atypical mycobacteria. A homozygous splice-site mutation in intron 3 was identified, resulting in the deletion of exon 3 at the mRNA level and consequently a truncated interferon-γ receptor 1 protein with absence of the transmembrane domain. Protein expression and interferon-γ dependent signaling were not detectable.

show abstract

HHV-8–associated Kaposi sarcoma in a child with IFNγR1 deficiency

Cited by 94 publications

References 39 publications

Immunity to Microbes: Lessons from Primary Immunodeficiencies

Immunity to Microbes: Lessons from Primary Immunodeficiencies

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

Two Patients with Complete Defects in Interferon Gamma Receptor-Dependent Signaling

Contact Info

Product

Resources

About