Publications by authors named "Elena Colino"
Torque teno virus (TTV) viral load (VL), a component of the human virome, increases during immune suppression or dysregulation. This study aimed to explore TTV VL in youths living with vertically acquired HIV (YWVH) and its potential as an immunovirological marker. We performed an observational, retrospective study involving YWVH under antiretroviral treatment (ART) from the Spanish Cohort of HIV-infected children, adolescents, and vertically HIV-infected patients transferred to Adult Units (CoRISpe-FARO), compared to HIV-negative healthy donors (HD).
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- The study aimed to evaluate hearing outcomes at 24 months for infants with mild congenital cytomegalovirus (cCMV) infection, comparing those who received antiviral treatment to those who did not.
- Utilizing data from the European Registry of Children with cCMV, researchers included infants diagnosed with cCMV early in life, who had normal physical exams and mild imaging findings.
- Results showed that 34.7% of the 196 participants received antiviral treatment, but there was no significant difference in hearing loss prevalence between treated (4.6%) and untreated groups (6.3%) after two years.
Background: In high-resource settings, the survival of children with immunocompromise (IC) has increased and immunosuppressive therapies are increasingly being used. This study aimed to determine the clinical characteristics, performance of diagnostic tools, and outcome of IC children with tuberculosis (TB) in Europe.
Methods: Multicenter, matched case-control study within the Pediatric Tuberculosis Network European Trials Group, capturing TB cases <18 years diagnosed 2000-2020.
is a major pathogen in children, elderly subjects, and immunodeficient patients. Pentraxin 3 (PTX3) is a fluid-phase pattern recognition molecule (PRM) involved in resistance to selected microbial agents and in regulation of inflammation. The present study was designed to assess the role of PTX3 in invasive pneumococcal infection.
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- Patients with X-linked recessive deficiency of TLR7, a crucial immune sensor, struggle to recognize SARS-CoV-2 and produce necessary type I interferons, leading to severe pneumonia cases.
- A study included 22 unvaccinated individuals with MyD88 or IRAK-4 deficiencies from multiple countries, primarily affecting children and young adults, with a significant portion requiring hospitalization.
- The findings highlight that these genetic deficiencies, previously linked to bacterial infections, also significantly increase vulnerability to hypoxemic pneumonia caused by COVID-19, especially as patients age.
In 2016, a new interferon-gamma release assay, QuantiFERON-TB Gold Plus, was introduced. We conducted a cross-sectional multicenter study, involving 158 children and adolescents with tuberculosis disease. The overall sensitivity of the assay was 82.
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- Congenital cytomegalovirus infection (CMVc) affects a notable percentage of newborns, leading to issues such as low birth weight and length.
- A study observed 383 children with CMVc, comparing their growth patterns in the first two years to World Health Organization standards, revealing that about 10% had significant growth impairments by 24 months.
- Factors such as being symptomatic at birth, being premature, and having motor or neurocognitive impairments increased the risk of these growth issues, suggesting that growth impairment should be recognized as part of CMVc's clinical profile.
Article Synopsis
- - The study investigates isolated congenital asplenia (ICA), a rare condition affecting the lymphoid organ, linked to mutations in the ribosomal protein SA gene, with a significant number of cases showing a connection to protein-coding mutations and some affecting mRNA splicing.
- - New research identified 11 additional mutations in the ribosomal protein SA gene and revealed that a majority of the studied kindreds (41%) and over half of patients (55%) have mutations that can lead to ICA.
- - Notably, the study highlights the variable expressiveness of these mutations, with some demonstrating incomplete penetrance, suggesting that not all individuals with mutations will develop symptoms of ICA.
Cytomegalovirus DNA Detection by Polymerase Chain Reaction in Cerebrospinal Fluid of Infants With Congenital Infection: Associations With Clinical Evaluation at Birth and Implications for Follow-up.
Clin Infect Dis
May 2017
Background: DNA detection of human cytomegalovirus (hCMV) in cerebrospinal fluid (CSF) by polymerase chain reaction (PCR) is a marker of central nervous system (CNS) involvement in congenital hCMV infection (cCMV), but its prognostic value is unknown.
Methods: A multicenter, retrospective study was performed using the Spanish Congenital Cytomegalovirus Infection Database (REDICCMV; http://www.cmvcongenito.
Background: Hyperzincemia and hypercalprotectinemia (Hz/Hc) is a distinct autoinflammatory entity involving extremely high serum concentrations of the proinflammatory alarmin myeloid-related protein (MRP) 8/14 (S100A8/S100A9 and calprotectin).
Objective: We sought to characterize the genetic cause and clinical spectrum of Hz/Hc.
Methods: Proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene sequencing was performed in 14 patients with Hz/Hc, and their clinical phenotype was compared with that of 11 patients with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome.
Background: Interleukin 12Rβ1 (IL-12Rβ1)-deficient patients are prone to clinical disease caused by mycobacteria, Salmonella, and other intramacrophagic pathogens, probably because of impaired interleukin 12-dependent interferon γ production. About 25% of patients also display mucocutaneous candidiasis, probably owing to impaired interleukin 23-dependent interleukin 17 immunity. The clinical features and outcome of candidiasis in these patients have not been described before, to our knowledge.
View Article and Find Full Text PDFAmong 3967 Staphylococcus aureus recovered from a Gran Canaria hospital (2003-2010), 28 strains were Panton-Valentine leukocidin-positive community-associated methicillin-resistant Staphylococcus aureus and were included in this study. Most isolates (89.3%) caused skin and skin-structure infections.
View Article and Find Full Text PDFWe report a series of 14 patients from 11 kindreds with recessive partial (RP)-interferon (IFN)-γR1 deficiency. The I87T mutation was found in nine homozygous patients from Chile, Portugal and Poland, and the V63G mutation was found in five homozygous patients from the Canary Islands. Founder effects accounted for the recurrence of both mutations.
View Article and Find Full Text PDFClinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
Medicine (Baltimore)
November 2010
Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation factor (MyD)88 deficiencies impair Toll-like receptor (TLR)- and interleukin-1 receptor-mediated immunity. We documented the clinical features and outcome of 48 patients with IRAK-4 deficiency and 12 patients with MyD88 deficiency, from 37 kindreds in 15 countries.The clinical features of IRAK-4 and MyD88 deficiency were indistinguishable.
View Article and Find Full Text PDFGenetic defects in the IL-12-IL-23/IFN-gamma circuit confer Mendelian susceptibility to mycobacteria and salmonella. The IL-12/IFN-gamma axis is essential for anti-tumoral immunity in mice. Cancer susceptibility has not been recognised in these patients so far.
View Article and Find Full Text PDFWe report a kindred with autosomal recessive interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency in 3 fourth-degree relatives. A diagnosis of IRAK-4 deficiency should be considered in families with invasive bacterial disease, even if the individuals affected are only distantly related, which falsely suggests multigenic or dominant inheritance with low penetrance.
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