Disease Information for Adenosine deaminase defic/SCID variant

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Clinical Manifestations
Signs & Symptoms
Absent tonsils/infant
Absent lymph nodes/infant
Recurrent chest infections/bronchitis/sign
Tonsil hypoplasia/absent
Typical Clinical Presentation
Presentation/Infant progressive cellular then humoral immune defect
Clinical Presentation & Variations
Presentation/Recurrent Infections
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset/Six months
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Microbiology & Serology Findings
Common vaccination antibodies absent/low
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
Abnormal Lab Findings - Decreased
Adenosine deaminaminase RBC lysates (Lab)
Lymphocytes (Lab)
Diagnostic Test Results
Other Tests & Procedures
Skin test anergy
Associated Diseases & Rule outs
Rule Outs
Cystic fibrosis (mucoviscidosis)
Associated Disease & Complications
Agammaglobulinemia, acquired
Anergic status
Cellular immunity defect/deficiency
Hypogammaglobulinemia
Immunodeficiency
Infections
Severe combined immunodeficiency syndrome
Disease Mechanism & Classification
Class
CLASS/Humoral Immune System Disorder (ex)
CLASS/Pediatric disorders (ex)
CLASS/T-Cell immune Lymphocyte Disorder (ex)
CLASS/Spleen/thymus/RES/immune system (category)
Pathophysiology
Pathophysiology/DNA fragmentation
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Heterozygous/recessive silent/clinically
Pathophysiology/Homozygous/dominant lethal
Pathophysiology/One carbon methylation metabolism/defect
Pathophysiology/Single gene locus indentified
Pathophysiology/Lethal Mutation Homozygous
Pathophysiology/Defective cellular immunity
Pathophysiology/Inhibited RNA reductase by excess deoxy-ATP
Pathophysiology/Progressive T-cell/cellular immune defect
Pathophysiology/T-cells unable to divide
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Immunodeficiency disorder/Primary
Treatment
Drug Therapy - Indication
RX/Adenosine deaminase infusion
RX/Genetic treatment/experimental
SX/Bone marrow transplant
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Other Treatments
TX/Potential Stem Cell Research RX
Definition

SCID/A group of disorders characterized by congenital and usually hereditary deficiency of both B-cell and T-cell systems, lymphoid aplasia, and thymic dysplasia. [merck manual 17th ed]; subsets include X-linked severe combined immunodeficiency or scids, ADA or adenosine deaminase deficiency, and Nezelof syndrome which is "combined immunodficiency with Igs [non-functioning Igs]"

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External Links Related to Adenosine deaminase defic/SCID variant
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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