Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years ’ experience in Catalonia (Spain)

ConclusionNewborn screening for SCID enables detection of several conditions, such as 22q syndromes, which should be managed by prompt, proactive approaches with adequate counseling for families by a multidisciplinary team.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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CONCLUSIONS: Data from this descriptive observational study do not suggest safety concerns associated with MenACWY-CRM when used as part of clinical care of 2-23 month-old infants/toddlers indicated for vaccination. PMID: 31648912 [PubMed - as supplied by publisher]
Source: Vaccine - Category: Allergy & Immunology Authors: Tags: Vaccine Source Type: research
CONCLUSION: In our sample, live vaccines were well-tolerated, even in children with moderate T-CD4+ lymphopenia and abnormal lymphocyte proliferative responses to antigens/mitogens. PMID: 31445531 [PubMed - in process]
Source: Acta Medica Portuguesa - Category: General Medicine Tags: Acta Med Port Source Type: research
We report a 2.32-Mb microdeletion at chromosome 17p13.3p13.2 and T-cell lymphopenia in a 6-month-old male infant with MDS. This is, to our knowledge, the first description of these 2 conditions co-occurring in the same patient.Cytogenet Genome Res
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research
INTRODUCTIONSevere combined immunodeficiency disease (SCID) is the most severe form of primary immunodeficiency disorders (PIDs). Impaired cellular and humoral immunity renders the affected infants susceptible to various infections and results in death within the first 2 years of life. Affected infants are asymptomatic at birth, untreated disease leads to death, and prompt treatment (i.e., hematopoietic stem cell transplantation, gene therapy, or enzyme replacement therapy) is linked to significant improvement in outcome. Thus, SCID meets the disease criteria for newborn screening (NBS). The T-cell receptor excision circle...
Source: Blood - Category: Hematology Authors: Tags: 203. Lymphocytes, Lymphocyte Activation, and Immunodeficiency, including HIV and Other Infections: Poster III Source Type: research
Background: The current standard of care in diffuse large B-cell lymphoma (DLBCL) consists of chemotherapy and therapeutic monoclonal antibodies that have significantly improved patient outcomes over the past 15 years. However, a large proportion of patients suffer from refractory or relapsed disease. Therefore, the development of new therapeutic strategies for this subgroup of patients, who are threatened by a high chance of disease-related death, represents an important unmet clinical need.Methods: We enrolled into our study 347 de novo DLBCL patients uniformly treated with R-CHOP from the BC Cancer population-based coho...
Source: Blood - Category: Hematology Authors: Tags: 621. Lymphoma-Genetic/Epigenetic Biology: Functional implications of genetics and epigenetics Source Type: research
AbstractPurpose of ReviewThis review provides an update on the progress in identifying the range of immunological dysfunction seen in DiGeorge syndrome and on more recent diagnostic and treatment approaches.Recent FindingsClinically, the associated thymic hypoplasia/aplasia is well known and can have profound effects on T cell function. Further, the humoral arm of the immune system can be affected, with hypogammaglobulinemia and poor vaccine-specific antibody response. Additionally, genetic testing utilizing chromosomal microarray demonstrates a small but significant number of 22q11 deletions that are not detectable by sta...
Source: Current Allergy and Asthma Reports - Category: Allergy & Immunology Source Type: research
In the article entitled “A case of atypical, complete DiGeorge syndrome without 22q11 mutation” (Ann Allergy Asthma Immunol 2017;118:629-647), the following sentence is incorrect: “Tetanus and pneumococcal immunoglobulin G titers were non-protective; the patient was not yet unvaccinated.” The sentence should read, “Tetanus and pneumococcal immunoglobulin G titers were non-protective; the patient was not yet vaccinated.”
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Tags: Erratum Source Type: research
ConclusionImmunodeficiencies identified among patients with 22q11.2 deletion syndrome were T cell defect (65.3%) and decreased immunoglobulin levels (12.2%). Median age of CD4 resolution was 2.5  years.
Source: Journal of Clinical Immunology - Category: Allergy & Immunology Source Type: research
This study is a good example of the degree to which the choice to remain active in later life makes a difference. That implies a range of other choices over the decades in order to raise the odds that you can in fact choose to remain active when older, such as avoiding weight gain. Moderate physical activity is associated with a greater than 50% reduction in cardiovascular death in over-65s. The 12 year study in nearly 2500 adults aged 65 to 74 years found that moderate physical activity reduced the risk of an acute cardiovascular event by more than 30%. High levels of physical activity led to greater risk reducti...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Immunosenescence is the name given to the decline of immune system effectiveness with aging, a large component of the frailty that arises in later life. This decline is partially a result of a failing supply of new immune cells, and partially a result of a growing misconfiguration of the immune system as a whole, driven by life-long exposure to infections. On this second front, persistent infection by herpesviruses such as cytomegalovirus appears to be particularly problematic, the cause of large fractions of the immune cell population in an old individual becoming specialized and unable to react to new threats. This open ...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
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