WordNet
- SCID resulting from mutation of a gene that codes for adenosine deaminase
- the 1st letter of the Roman alphabet (同)a
- the blood group whose red cells carry the A antigen (同)type_A, group A
- in the Christian era; used before dates after the supposed year Christ was born; "in AD 200" (同)A.D., anno_Domini
PrepTutorEJDIC
- answer / ampere
- Americans for Democratic Action 米国人民主行動連盟
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/08/24 21:27:31」(JST)
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Adenosine deaminase deficiency |
Classification and external resources |
Specialty |
hematology |
ICD-10 |
D81.3 |
ICD-9-CM |
279.2 |
OMIM |
102700 |
DiseasesDB |
260 |
NCI |
Adenosine deaminase deficiency |
GeneReviews |
- Adenosine Deaminase Deficiency
|
Adenosine deaminase deficiency, also called ADA deficiency or ADA-SCID,[1] is an autosomal recessive[2] metabolic disorder that causes immunodeficiency. It occurs in fewer than one in 100,000 live births worldwide.
It accounts for about 15% of all cases of severe combined immunodeficiency (SCID).[3] Only 3% of children are born with this gene.
ADA deficiency may be present in infancy, childhood, adolescence, or adulthood.[1] Age of onset and severity is related to some 29 known genotypes associated with the disorder.[4]
Contents
- 1 Pathophysiology
- 2 Genetics
- 3 Treatment
- 4 References
- 5 External links
Pathophysiology
ADA deficiency is due to a lack of the enzyme adenosine deaminase. This deficiency results in an accumulation of deoxyadenosine,[5] which, in turn, leads to:
- a buildup of dATP in all cells, which inhibits ribonucleotide reductase and prevents DNA synthesis, so cells are unable to divide. Since developing T cells and B cells are some of the most mitotically active cells, they are highly susceptible to this condition.
- an increase in S-adenosylhomocysteine since the enzyme adenosine deaminase is important in the purine salvage pathway; both substances are toxic to immature lymphocytes, which thus fail to mature.
Because T cells undergo proliferation and development in the thymus, affected individuals typically have a small, underdeveloped thymus.[6] As a result, the immune system is severely compromised or completely lacking.
Genetics
Adenosine deaminase deficiency has an autosomal recessive pattern of inheritance.
The enzyme adenosine deaminase is encoded by a gene on chromosome 20. ADA deficiency is inherited in an autosomal recessive manner.[1] This means the defective gene responsible for the disorder is located on an autosome (chromosome 20 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Treatment
Treatments include:
- bone marrow transplant
- gene therapy
- ADA enzyme in PEG vehicle
On September 14, 1990, the first gene therapy to combat this disease was performed by Dr. William French Anderson on a four-year-old girl, Ashanti DeSilva, at the National Institutes of Health, Bethesda, Maryland, U.S.A.[7]
References
- ^ a b c Online 'Mendelian Inheritance in Man' (OMIM) 102700
- ^ Hirschhorn R, Vawter GF, Kirkpatrick JA Jr., Rosen FS (September 1979). "Adenosine deaminase deficiency: frequency and comparative pathology in autosomally recessive severe combined immunodeficiency". Clinical immunology and immunopathology 14 (1): 107–20. doi:10.1016/0090-1229(79)90131-4. PMID 477037.
- ^ Hershfield MS (October 2003). "Genotype is an important determinant of phenotype in adenosine deaminase deficiency". Current opinion in immunology 15 (5): 571–7. doi:10.1016/S0952-7915(03)00104-3. PMID 14499267.
- ^ Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS (October 1998). "Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles". American Journal of Human Genetics 63 (4): 1049–59. doi:10.1086/302054. PMC 1377486. PMID 9758612.
- ^ "Adenosine Deaminase (ADA) Deficiency". Archived from the original on 12 February 2008. Retrieved 2008-02-28.
- ^ p347, The Immune System Peter Parham, Garland Science, London and New York, 2009
- ^ Naam, Ramez (2005-07-03). "'More Than Human' - New York Times". The New York Times. Retrieved 2008-02-28.
External links
- Adenosine deaminase deficiency - Genetics Home Reference
Immune disorders: Lymphoid and complement immunodeficiency (D80–D85, 279.0–4)
|
|
Primary |
Antibody/humoral (B) |
Hypogammaglobulinemia |
- X-linked agammaglobulinemia
- Transient hypogammaglobulinemia of infancy
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|
Dysgammaglobulinemia |
- IgA deficiency
- IgG deficiency
- IgM deficiency
- Hyper IgM syndrome (2
- 3
- 4
- 5)
- Wiskott-Aldrich syndrome
- Hyper-IgE syndrome
|
|
Other |
- Common variable immunodeficiency
- ICF syndrome
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|
|
T cell deficiency (T) |
- thymic hypoplasia: hypoparathyroid (Di George's syndrome)
- euparathyroid (Nezelof syndrome
- Ataxia telangiectasia)
peripheral: Purine nucleoside phosphorylase deficiency
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Severe combined (B+T) |
- x-linked: X-SCID
autosomal: Adenosine deaminase deficiency
- Omenn syndrome
- ZAP70 deficiency
- Bare lymphocyte syndrome
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|
|
Acquired |
|
|
Leukopenia:
Lymphocytopenia |
- Idiopathic CD4+ lymphocytopenia
|
|
Complement deficiency |
- C1-inhibitor (Angioedema/Hereditary angioedema)
- Complement 2 deficiency/Complement 4 deficiency
- MBL deficiency
- Properdin deficiency
- Complement 3 deficiency
- Terminal complement pathway deficiency
- Paroxysmal nocturnal hemoglobinuria
- Complement receptor deficiency
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Index of the immune system
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|
Description |
- Physiology
- cells
- autoantigens
- autoantibodies
- complement
- surface antigens
- IG receptors
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|
Disease |
- Allergies
- Immunodeficiency
- Immunoproliferative immunoglobulin disorders
- Hypersensitivity and autoimmune disorders
- Neoplasms and cancer
|
|
Treatment |
- Procedures
- Drugs
- antihistamines
- immunostimulants
- immunosuppressants
- monoclonal antibodies
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|
|
Inborn error of purine-pyrimidine metabolism (E79, 277.2)
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|
Purine metabolism |
Anabolism
|
- Adenylosuccinate lyase deficiency
- Adenosine Monophosphate Deaminase Deficiency type 1
|
|
Nucleotide salvage
|
- Lesch-Nyhan syndrome/Hyperuricemia
- Adenine phosphoribosyltransferase deficiency
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Catabolism
|
- Adenosine deaminase deficiency
- Purine nucleoside phosphorylase deficiency
- Xanthinuria
- Gout
- Mitochondrial neurogastrointestinal encephalopathy syndrome
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|
|
Pyrimidine metabolism |
Anabolism
|
- Orotic aciduria
- Miller syndrome
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Catabolism
|
- Dihydropyrimidine dehydrogenase deficiency
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|
|
Index of inborn errors of metabolism
|
|
Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
|
|
Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
|
|
Treatment |
|
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UpToDate Contents
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English Journal
- How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID).
- Kohn DB1, Gaspar HB2.
- Journal of clinical immunology.J Clin Immunol.2017 Feb 14. doi: 10.1007/s10875-017-0373-y. [Epub ahead of print]
- Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) accounts for 10-15% of cases of human SCID. From what was once a uniformly fatal disease, the prognosis for infants with ADA SCID has improved greatly based on the development of multiple therapeutic options, coupled with mor
- PMID 28194615
- Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients.
- Sauer AV1, Hernandez RJ1, Fumagalli F2, Bianchi V3, Poliani PL4, Dallatomasina C5, Riboni E5, Politi LS6, Tabucchi A7, Carlucci F7, Casiraghi M8, Carriglio N1, Cominelli M4, Forcellini CA8, Barzaghi F1,8,9, Ferrua F1,8,9, Minicucci F10, Medaglini S10, Leocani L10, la Marca G11, Notarangelo LD12, Azzari C11, Comi G5, Baldoli C13, Canale S14, Sessa M1,2, D'Adamo P3, Aiuti A1,8,9.
- Scientific reports.Sci Rep.2017 Jan 11;7:40136. doi: 10.1038/srep40136.
- Adenosine Deaminase (ADA) deficiency is an autosomal recessive variant of severe combined immunodeficiency (SCID) caused by systemic accumulation of ADA substrates. Neurological and behavioral abnormalities observed in ADA-SCID patients surviving after stem cell transplantation or gene therapy repre
- PMID 28074903
- Standing on the Shoulders of Stem Cell Gene Therapists: History, Hyperbole, and Hope for the Future.
- Gardner J1.
- Human gene therapy. Clinical development.Hum Gene Ther Clin Dev.2016 Dec;27(4):140-144. Epub 2016 Aug 30.
- A new type of medicine approved in Europe at the end of May represents the culmination of the successful convergence of two fields of science: stem cell transplantation and gene therapy. Strimvelis, a patient-specific gene-modified stem cell medicine for ADA-SCID (adenosine deaminase deficiency lead
- PMID 27763769
Japanese Journal
- Outcomes in Two Japanese Adenosine Deaminase-Deficiency Patients Treated by Stem Cell Gene Therapy with No Cytoreductive Conditioning
- Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning
- Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement
Related Pictures
★リンクテーブル★
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重症複合免疫不全症 severe combined immunodeficiency
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アデノシンデアミナーゼ adenosine deaminase
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