Macrophage Activation Syndrome Mimicking Life-Threatening Infection in a Patient With Variable Immunodeficiency, Centromeric Instability, and Facial Anomalies

André, Nícolas Vasconcellos; Roquelaure, Bertrand; Caillez, Mathilde; Chrestian, Marianne; Moncla, Anne; Blanco-Betancourt, Carla; Schiff, Claudine

doi:10.1542/peds.2004-1271

Cited by 6 publications

(3 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Developmental delay and intellectual disability are often seen in affected patients [Ehrlich et al, 2006]. Hematological diseases and malignancies including macrophage activation syndrome, myelodysplastic syndrome, Hodgkin lymphoma, adrenocortical adenoma, and angiosarcoma have been reported in some affected patients [Andre et al, 2004; Schuetz et al, 2007; Hagleitner et al, 2008; van den Brand et al, 2011]. Life expectancy of ICF patients is significantly reduced because of severe immunodeficiency leading to recurrent, severe and often fatal respiratory and gastrointestinal infections.…”

Section: Introductionmentioning

confidence: 99%

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

Cerbone

Wang

Maarel

et al. 2012

American J of Med Genetics Pt A

View full text Add to dashboard Cite

The Immunodeficiency, Centromeric instability, Facial anomalies (ICF) syndrome is an autosomal recessive disease presenting with immunodeficiency secondary to hypo- or agammaglobulinemia, developmental delay, and facial anomalies. Centromeric instability is the cytogenetic hallmark of the disorder which results from targeted chromosomal rearrangements related to a genomic methylation defect. We describe a patient carrying a homozygous mutation of the ZBTB24 gene, which has been recently shown to be responsible for ICF syndrome type 2. Our patient presented with intellectual disability, multiple café-au-lait spots, and a large cerebral arachnoidal cyst. Although laboratory signs of impaired immune function, such as reduced serum IgM were detected, our patient did not present clinical manifestations of immunodeficiency. Brain malformations have not been reported so far in ICF syndrome and it can be speculated that ZBTB24 mutations may alter cerebral development. Nevertheless, we cannot rule out that the presence of the cerebral cyst in the patient is coincidental. In summary, our patient illustrates that clinical evidence of immunodeficiency is not a universal feature of ICF2 syndrome type 2 and suggests that brain malformations may be present in other ICF cases.

show abstract

Section: Introductionmentioning

confidence: 99%

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

Cerbone

Wang

Maarel

et al. 2012

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…The major cause of death in ICF is infection [Hagleitner et al, 2008]. Hematological disease and malignancy (macrophage activation syndrome, myelodysplastic syndrome, and Hodgkin lymphoma) have been reported in three patients [Andr e et al, 2004;Schuetz et al, 2007;Hagleitner et al, 2008]. To date there have been no reports of either epithelial or mesenchymal malignancies.…”

Section: Introductionmentioning

confidence: 99%

Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome

Brand

Flucke

Bult

et al. 2011

American J of Med Genetics Pt A

View full text Add to dashboard Cite

The Immunodeficiency, Centromeric region instability, and Facial anomalies (ICF) syndrome (OMIM #242860) is a rare autosomal recessive disorder caused by defective DNA methylation. Hematological disease and malignancy (macrophage activation syndrome, myelodysplastic syndrome, and Hodgkin lymphoma) have been reported in three patients. To date, there have been no reports of either epithelial or mesenchymal malignancies. We present a patient with all clinical and laboratory findings of the ICF syndrome who died of a metastatic angiosarcoma of the liver. This is the first report of a non-hematological malignancy in the ICF syndrome. The young age at which our patient developed an angiosarcoma suggests an effect of the defective DNA methylation observed in the ICF syndrome. Therefore, with improvement of recognition and treatment of the ICF syndrome, malignancy could become more common in this condition.

show abstract

“…The major cause of death in ICF is infection [Hagleitner et al, 2008]. Hematological disease and malignancy (macrophage activation syndrome, myelodysplastic syndrome, and Hodgkin lymphoma) have been reported in three patients [André et al, 2004; Schuetz et al, 2007; Hagleitner et al, 2008]. To date there have been no reports of either epithelial or mesenchymal malignancies.…”

Section: Introductionmentioning

confidence: 99%

Tensile properties of denture base resin reinforced with various esthetic fibers

Demir

Doğan

2011

J of Applied Polymer Sci

View full text Add to dashboard Cite

This study was conducted to determine the reinforcement effect of five types of esthetic fibers on the tensile properties of a conventional denture base resin. E-glass, polyester, rayon, nylon 6, and nylon 6/6 fibers were cut into 2, 4, and 6 mm lengths and added into resin randomly at a concentration of 3% by weight. For each formulation, five tensile specimens, as well as control specimens without fibers, were prepared in a dumbbell shape using a stainless steel mold, constructed according to ASTM Standard D638M-91a. Tensile properties were evaluated by using a universal testing machine. Surfaces of the tensile sections were also observed under the scanning electron microscope (SEM). Tensile strength of the specimens reinforced with fibers in varying lengths was found to be lower than that of the unreinforced control group. Among the trial groups, the specimens reinforced with 6 mm long polyester fibers showed the highest tensile strength. All the SEM fractographs indicated both weak adhesion and pull out of fibers from the matrix. None of the incorporated esthetic fibers appeared to improve tensile strength of the resin.

show abstract

Macrophage Activation Syndrome Mimicking Life-Threatening Infection in a Patient With Variable Immunodeficiency, Centromeric Instability, and Facial Anomalies

Cited by 6 publications

References 6 publications

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome

Tensile properties of denture base resin reinforced with various esthetic fibers

Contact Info

Product

Resources

About