Browsing by Author "Aird, Alejandra"

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    Miositis aguda benigna de la infancia. Serie clínica y revisión de la literatura
    (Sociedad Chilena de Pediatría, 2017) Cavagnaro, Felipe; Aird, Alejandra; Harwardt, Ingrid; Marambio, Carmen
    Benign acute childhood myositis (BACM) is a rare clinical condition that mainly affects pre-school and school age-children. It is usually preceded by a viral illness, particularly influenza virus infection. Objective: To describe a cluster of BACM cases that were seen in a paediatric unit. Patients and Methods: A retrospective serie of cases that presented with a clinical picture suggestive of BACM between August and November 2012 in the paediatric emergency department of a private clinic. Results: Nine children, between 4 and 12 years, presented with a history of a recent febrile upper viral respiratory infection, followed by intense calf pain and claudication. They all recovered without complications. Laboratory results showed a marked increase in CK, with a mean of 4,066 IU/l. Three of the cases had influenza B infection and one Mycoplasma pneumonia infection. They were managed conservatively with hydration and non-steroidal anti-inflammatory drugs. Conclusions: BACM is a benign entity with a characteristic clinical presentation that can be managed most of the time in the ambulatory setting, avoiding invasive studies and unnecessary hospital admission.
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    Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome
    (2019) Aird, Alejandra; Lagos, Macarena; Vargas-Hernández, Alexander; Posey, Jennifer; Coban-Akdemir, Zeynep; Jhangiani, Shalini; Mace, Emily; Reyes, Anaid; King, Alejandra; Cavagnaro, Felipe; Forbes, Lisa; Chinn, Iván; Lupski, James; Orange, Jordan; Poli, Cecilia
    Nuclear factor kappa-B subunit 2 (NF-κB2/p100/p52), encoded by NFKB2 (MIM: 164012) belongs to the NF-κB family of transcription factors that play a critical role in inflammation, immunity, cell proliferation, differentiation and survival. Heterozygous C-terminal mutations in NFKB2 have been associated with early-onset common variable immunodeficiency (CVID), central adrenal insufficiency and ectodermal dysplasia. Only two previously reported cases have documented decreased natural killer (NK) cell cytotoxicity, and little is known about the role of NF-κB2 in NK cell maturation and function. Here we report a 13-year-old female that presented at 6 years of age with a history of early onset recurrent sinopulmonary infections, progressive hair loss, and hypogamaglobulinemia consistent with a clinical diagnosis of CVID. At 9 years of age she had cytomegalovirus (CMV) pneumonia that responded to ganciclovir treatment. Functional NK cell testing demonstrated decreased NK cell cytotoxicity despite normal NK cell numbers, consistent with a greater susceptibility to systemic CMV infection. Research exome sequencing (ES) was performed and revealed a novel de novo heterozygous nonsense mutation in NFKB2 (c.2611C>T, p.Gln871*) that was not carried by either of her parents. The variant was Sanger sequenced and confirmed to be de novo in the patient. At age 12, she presented with a reactivation of the systemic CMV infection that was associated with severe and progressive nephrotic syndrome with histologic evidence of pedicellar effacement and negative immunofluorescence. To our knowledge, this is the third NF-κB2 deficient patient in which an abnormal NK cell function has been observed, suggesting a role for non-canonical NF-κB2 signaling in NK cell cytotoxicity. NK cell function should be assessed in patients with mutations in the non-canonical NF-κB pathway to explore the risk for systemic viral infections that may lead to severe complications and impact patient survival. Similarly NF-κB2 should be considered in patients with combined immunodeficiency who have aberrant NK cell function. Further studies are needed to characterize the role of NF-κB2 in NK cell cytotoxic function.

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