Browsing by Author "Frigati, Lisa"

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    HIV testing and antiretroviral therapy initiation at birth : views from a primary care setting in Khayelitsha
    (AOSIS Publishing, 2015-04-28) Nelson, Aurelie; Maritz, Jean; Giddy, Janet; Frigati, Lisa; Rabie, Helena; Van Cutsem, Gilles; Mutseyekwa, Tabitha; Jange, Nomfusi; Bernheimer, Jonathan; Cotton, Mark F.; Cox, Vivian
    No abstract available.
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    Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome : a case report
    (BioMed Central, 2020-06-05) Glanzmann, Brigitte; Möller, Marlo; Schoeman, Mardelle; Urban, Michael; Van Helden, Paul D.; Frigati, Lisa; Grewal, Ravnit; Pieters, Hermanus; Loos, Ben; Hoal, Eileen G.; Glashoff, Richard H.; Cornelissen, Helena; Rabie, Helena; Esser, Monika M.; Kinnear, Craig J.
    Background: The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The syndrome, the result of mutations in the WAS gene which encodes the Wiskott-Aldrich protein (WASp), has wide clinical phenotype variation, ranging from classical WAS to X-linked thrombocytopaenia and X-linked neutropaenia. In many cases, the diagnosis of WAS in first affected males is delayed, because patients may not present with the classic signs and symptoms, which may intersect with other thrombocytopenia causes. Case presentation: Here, we describe a three-year-old HIV negative boy presenting with recurrent infections, skin rashes, features of autoimmunity and atopy. However, platelets were initially reported as normal in numbers and morphology as were baseline immune investigations. An older male sibling had died in infancy from suspected immunodeficiency. Uncertainty of diagnosis and suspected severe PIDD prompted urgent further molecular investigation. Whole exome sequencing identified c. 397 G > A as a novel hemizygous missense mutation located in exon 4 of WAS. Conclusion: With definitive molecular diagnosis, we could target treatment and offer genetic counselling and prenatal diagnostic testing to the family. The identification of novel variants is important to confirm phenotype variations of a syndrome.
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    Tuberculosis : opportunities and challenges for the 90-90-90 targets in HIV-infected children
    (International AIDS Society, 2015-12-02) Rabie, Helena; Frigati, Lisa; Hesseling, Anneke C.; Garcia-Prats, Anthony J.
    Introduction: In 2014 the Joint United Nations Programme on HIV/AIDS defined the ambitious 90 90 90 targets for 2020, in which 90% of people living with HIV must be diagnosed, 90% of those diagnosed should be on sustained therapy and 90% of those on therapy should have an undetectable viral load. Children are considered to be a key focus population for these targets. This review will highlight key components of the epidemiology, prevention and treatment of tuberculosis (TB) in HIV-infected children in the era of increasing access to antiretroviral therapy (ART) and their relation to the 90 90 90 targets. Discussion: The majority of HIV-infected children live in countries with a high burden of TB. In settings with a high burden of both diseases such as in sub-Saharan Africa, up to 57% of children diagnosed with and treated for TB are HIV-infected. TB results in substantial morbidity and mortality in HIV-infected children, so preventing TB and optimizing its treatment in HIV-infected children will be important to ensuring good long-term outcomes. Prevention of TB can be achieved by increasing access to ART to both children and adults, and appropriate provision of isoniazid preventative therapy. Co-treatment of HIV and TB is complicated by drug-drug interactions particularly due to the use of rifampicin; these may compromise virologic outcomes if appropriate corrective actions are not taken. There remain substantial operational challenges, and improved integration of paediatric TB and HIV services, including with antenatal and routine under-five care, is an important priority. Conclusions: TB may be an important barrier to achievement of the 90 90 90 targets, but specific attention to TB care in HIV-infected children may provide important opportunities to enhance the care of both TB and HIV in children.