BIOMAT Database Logo BIOMAT Database Logo

Adenosine Deaminase Deficient SCID with Myocardial Hypertrophy. 2021

Aisling M Flinn, and Terence Flood, and Terence Prendiville, and Andrew R Gennery, and Timothy R Leahy
Great North Children's Hospital, Newcastle upon Tyne, UK. Aisling.flinn@ncl.ac.uk.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D005260 Female Females
D006332 Cardiomegaly Enlargement of the HEART, usually indicated by a cardiothoracic ratio above 0.50. Heart enlargement may involve the right, the left, or both HEART VENTRICLES or HEART ATRIA. Cardiomegaly is a nonspecific symptom seen in patients with chronic systolic heart failure (HEART FAILURE) or several forms of CARDIOMYOPATHIES. Cardiac Hypertrophy,Enlarged Heart,Heart Hypertrophy,Heart Enlargement,Cardiac Hypertrophies,Enlargement, Heart,Heart Hypertrophies,Heart, Enlarged,Hypertrophies, Cardiac,Hypertrophies, Heart,Hypertrophy, Cardiac,Hypertrophy, Heart
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000243 Adenosine Deaminase An enzyme that catalyzes the hydrolysis of ADENOSINE to INOSINE with the elimination of AMMONIA. Adenosine Aminohydrolase,Aminohydrolase, Adenosine,Deaminase, Adenosine
D015316 Genetic Therapy Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions. Gene Therapy,Somatic Gene Therapy,DNA Therapy,Gene Therapy, Somatic,Genetic Therapy, Gametic,Genetic Therapy, Somatic,Therapy, DNA,Therapy, Gene,Therapy, Somatic Gene,Gametic Genetic Therapies,Gametic Genetic Therapy,Genetic Therapies,Genetic Therapies, Gametic,Genetic Therapies, Somatic,Somatic Genetic Therapies,Somatic Genetic Therapy,Therapies, Gametic Genetic,Therapies, Genetic,Therapies, Somatic Genetic,Therapy, Gametic Genetic,Therapy, Genetic,Therapy, Somatic Genetic
D016511 Severe Combined Immunodeficiency Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID). Bare Lymphocyte Syndrome,Immunodeficiency, Severe Combined,Omenn Syndrome,Immunodeficiency Syndrome, Severe Combined,Immunologic Deficiency, Severe Combined,Omenn's Syndrome,Reticuloendotheliosis, Familial,Severe Combined Immune Deficiency,Severe Combined Immunodeficiency Syndrome,Severe Combined Immunologic Deficiency,Bare Lymphocyte Syndromes,Combined Immunodeficiencies, Severe,Combined Immunodeficiency, Severe,Familial Reticuloendothelioses,Familial Reticuloendotheliosis,Immunodeficiencies, Severe Combined,Lymphocyte Syndrome, Bare,Lymphocyte Syndromes, Bare,Omenns Syndrome,Reticuloendothelioses, Familial,Severe Combined Immunodeficiencies,Syndrome, Bare Lymphocyte,Syndrome, Omenn,Syndrome, Omenn's,Syndromes, Bare Lymphocyte
D018380 Hematopoietic Stem Cell Transplantation Transfer of HEMATOPOIETIC STEM CELLS from BONE MARROW or BLOOD between individuals within the same species (TRANSPLANTATION, HOMOLOGOUS) or transfer within the same individual (TRANSPLANTATION, AUTOLOGOUS). Hematopoietic stem cell transplantation has been used as an alternative to BONE MARROW TRANSPLANTATION in the treatment of a variety of neoplasms. Stem Cell Transplantation, Hematopoietic,Transplantation, Hematopoietic Stem Cell

Related Publications

Aisling M Flinn, and Terence Flood, and Terence Prendiville, and Andrew R Gennery, and Timothy R Leahy
Outcomes for adenosine deaminase-deficient SCID.
August 2022, Blood,
Aisling M Flinn, and Terence Flood, and Terence Prendiville, and Andrew R Gennery, and Timothy R Leahy
Hematopoietic stem cell gene therapy for adenosine deaminase deficient-SCID.
January 2009, Immunologic research,
Aisling M Flinn, and Terence Flood, and Terence Prendiville, and Andrew R Gennery, and Timothy R Leahy
How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID).
May 2017, Journal of clinical immunology,
Aisling M Flinn, and Terence Flood, and Terence Prendiville, and Andrew R Gennery, and Timothy R Leahy
SCID: the role of adenosine deaminase deficiency.
August 1997, Immunology today,
Aisling M Flinn, and Terence Flood, and Terence Prendiville, and Andrew R Gennery, and Timothy R Leahy
Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations.
October 2017, Journal of clinical immunology,
Aisling M Flinn, and Terence Flood, and Terence Prendiville, and Andrew R Gennery, and Timothy R Leahy
Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).
February 1994, Clinical immunology and immunopathology,
Aisling M Flinn, and Terence Flood, and Terence Prendiville, and Andrew R Gennery, and Timothy R Leahy
Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID).
November 2005, Clinical immunology (Orlando, Fla.),
Aisling M Flinn, and Terence Flood, and Terence Prendiville, and Andrew R Gennery, and Timothy R Leahy
Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry.
November 2020, Journal of clinical immunology,
Aisling M Flinn, and Terence Flood, and Terence Prendiville, and Andrew R Gennery, and Timothy R Leahy
Expression of human adenosine deaminase after fusion of adenosine deaminase-deficient cells with mouse fibroblasts.
February 1978, Proceedings of the National Academy of Sciences of the United States of America,
Aisling M Flinn, and Terence Flood, and Terence Prendiville, and Andrew R Gennery, and Timothy R Leahy
National experience with adenosine deaminase deficiency related SCID in Polish children.
January 2022, Frontiers in immunology,
Copied contents to your clipboard!