Publications by authors named "Staines-Boone T"
Background: Common Variable Immunodeficiency (CVID) is a heterogeneous disorder characterized by defective B cell differentiation and antibody production. Interleukin (IL)-21 activates STAT3, a potent regulator of B cell differentiation into plasma cells. We have studied the phosphorylation of STAT3 in CVID patients and its contribution to B cells subsets.
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- * The study, involving 13 hospitals, found that the majority of patients (88%) were male, all experienced bacterial infections, and 30% had fungal infections; complications related to the BCG vaccine occurred in 58% of vaccinated patients.
- * Genetic analysis revealed X-linked CGD was most common, with 89% diagnosed biologically and 89% genetically; notable findings include a significant presence of CYBA and NCF2 mutations,
Severe combined immunodeficiency (SCID) represents the most lethal form of primary immunodeficiency, with mortality rates of greater than 90% within the first year of life without treatment. Hematopoietic stem cell transplantation and gene therapy are the only curative treatments available, and the best-known prognostic factors for success are age at diagnosis, age at hematopoietic stem cell transplantation, and the comorbidities that develop in between. There are no evidence-based guidelines for standardized clinical care for patients with SCID during the time between diagnosis and definitive treatment, and we aim to generate a consensus management strategy on the supportive care of patients with SCID.
View Article and Find Full Text PDFHyper IgE syndrome (HIES) is characterized by recurrent skin abscesses, eczema, pneumonia, and high levels of serum IgE. Nonimmunologic manifestations of HIES include a characteristic face, pathologic dentition, scoliosis, bone alterations, hyperextensible joints, and vascular abnormalities. Somatic mosaicism is defined by the presence of two or more populations of cells with different genotypes in one individual.
View Article and Find Full Text PDFHyper-IgE syndrome (HIES) is an immunodeficiency disorder that is characterized by distinctive immunologic and non-immunologic manifestations. Although mutations in signal transducer and activator of transcription 3 (STAT3) have been associated with HIES, the exact nature of the relationship is unknown. Here, we characterized the functional activity of STAT3 and its mutations in 11 Mexican patients with autosomal dominant HIES.
View Article and Find Full Text PDFBackground: There are two inheritance patterns, the X-linked recessive (XL) pattern and the autosomal recessive pattern. There is no information on the predominant inheritance pattern of male patients with chronic granulomatous disease (CGD) in Mexico.
Objective: The aim of this study was to determine the inheritance pattern in a cohort of Mexican male patients with CGD by means of the detection of an XL status carrier among their female relatives, and to describe the frequency of discoid lupus (DL) among carriers.
Article Synopsis
- Hyper-IgM syndrome (HIGM) is a condition with high IgM and low levels of other immunoglobulins (IgG, IgA, IgE) that can lead to a variety of infections.
- A study from the HIGM syndrome Registry in Latin America found molecular defects in 37 out of 58 patients, primarily CD40 ligand deficiency in 35 cases, which was linked to severe respiratory and opportunistic infections.
- This research provides new insights into the genetic and clinical characteristics of HIGM syndrome in Latin America, including previously unreported mutations and the success of bone marrow transplants for some patients.
Background: Common variable immunodeficiency (CVID) is characterised by hypogammaglobulinaemia and a broad clinical spectrum, mainly showing recurrent bacterial infections accompanied sometimes by increased susceptibility to chronic lung disease, autoimmunity, and neoplastic diseases.
Objectives: To evaluate the clinical and immunological characteristics of patients with CVID in Mexico.
Methods: This is a retrospective analysis of 43 patients with CVID from the Immunology Division of seven different reference centres in Mexico.
Kawasaki disease is an acute febrile multisystemic vasculitis affecting children that can affect the coronary arteries. Routine BCG vaccination in Mexico leads to a 99% coverage in infants younger than 1 year. We present a case of Kawasaki disease with skin lesions at the site of BCG.
View Article and Find Full Text PDFChurg-Strauss syndrome (CSS) is one of the rarest forms of vasculitis, and very rarely presents in the pediatric population. We present two cases of childhood CSS, both with hepatic and cardiac involvement. To our knowledge, these are the first two cases of CSS in the pediatric population described in Mexico.
View Article and Find Full Text PDFObjective: To investigate the association between family history (FH) of neoplasia, gyneco-obstetric factors and breast cancer (BC) in a case-control study. In cases, to analyze those variables in relation with early onset of BC, the manner of detection (self-examination, prompted by pain, or casual), the size of tumor, and the elapsed time to seek medical attention.
Material And Methods: Data from 151 prevalent BC cases and 235 age-matched controls were analyzed by multiple logistic regression, to assess the influence of BC risk factors.