アデノシンデアミナーゼ欠損症
WordNet
- 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
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
- 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）』「2015/10/30 13:10:55」(JST)
[Wiki en表示]
| Adenosine deaminase deficiency |
| Classification and external resources |
| Specialty |
hematology |
| ICD-10 |
D81.3 |
| ICD-9-CM |
279.2 |
| OMIM |
102700 |
| DiseasesDB |
260 |
| 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)
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|
| Primary |
| Antibody/humoral (B) |
| Hypogammaglobulinemia |
- X-linked agammaglobulinemia
- Transient hypogammaglobulinemia of infancy
|
|
| Dysgammaglobulinemia |
- IgA deficiency
- IgG deficiency
- IgM deficiency
- Hyper IgM syndrome (1
- 2
- 3
- 4
- 5)
- Wiskott-Aldrich syndrome
- Hyper-IgE syndrome
|
|
| Other |
- Common variable immunodeficiency
- ICF syndrome
|
|
|
| T cell deficiency (T) |
- thymic hypoplasia: hypoparathyroid (Di George's syndrome)
- euparathyroid (Nezelof syndrome
- Ataxia telangiectasia)
peripheral: Purine nucleoside phosphorylase deficiency
|
|
| 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
|
|
| Description |
- Physiology
- cells
- autoantigens
- autoantibodies
- complement
- surface antigens
- IG receptors
|
|
| 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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|
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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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|
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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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|
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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
- Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.
- Baffelli R1, Notarangelo LD2, Imberti L3, Hershfield MS4, Serana F3, Santisteban I4, Bolda F1, Porta F2, Lanfranchi A5.
- Journal of clinical immunology.J Clin Immunol.2015 Sep 16. [Epub ahead of print]
- PURPOSE: We carried out a retrospective analysis of 27 patients with Adenosine Deaminase (ADA) deficiency diagnosed in a single center from 1997 to the 2013, for evaluating whether data regarding types of disease-inducing mutations, biochemical and immunological features as well as clinical outcomes
- PMID 26376800
- Effects of enzyme replacement therapy on immune function in ADA deficiency patient.
- Nakazawa Y1, Kawai T1, Uchiyama T1, Goto F1, Watanabe N1, Maekawa T2, Ishiguro A2, Okuyama T3, Otsu M4, Yamada M5, Hershfield MS6, Ariga T5, Onodera M7.
- Clinical immunology (Orlando, Fla.).Clin Immunol.2015 Jun 27. pii: S1521-6616(15)00217-X. doi: 10.1016/j.clim.2015.06.011. [Epub ahead of print]
- PMID 26122173
- Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.
- Nikolajeva O1, Worth A, Hague R, Martinez-Alier N, Smart J, Adams S, Davies EG, Gaspar HB.
- Journal of clinical immunology.J Clin Immunol.2015 May;35(4):366-72. doi: 10.1007/s10875-015-0158-0. Epub 2015 Apr 15.
- PURPOSE: Adenosine deaminase (ADA) deficiency is a systemic disorder of purine metabolism. Deficiency of the purine salvage enzyme ADA leads to the build-up of the toxic metabolites, deoxyadenosine triphosphate and deoxyadenosine. ADA is ubiquitously expressed in all tissues of the body but most pro
- PMID 25875700
Japanese Journal
- 大津 真
- 日本臨床免疫学会会誌 33(6), 312-316, 2010
- … 種の免疫担当細胞等に欠陥が生じ，結果として免疫能の一部あるいは広範な欠損を呈する疾患群の総称である．重篤なタイプの疾患に対して造血幹細胞を標的とした遺伝子細胞治療の研究が進められており，ADA欠損症，X連鎖重症複合免疫不全症を含むいくつかの疾患において臨床試験が行われ，臨床効果が認められている．現行の治療では，ウイルスベクターを用いた治療遺伝子のゲノムへの挿入が行われるため永続 …
- NAID 130000431645
- ALTERATION OF PERIPHERAL BLOOD LYMPHOCYTE SUBSETS IN AUTOIMMUNE DIABETES OF THE ADULTS (ADA) PRIOR OF INSULIN DEFICIENCY
- AKESSON C.,LETHAGEN A-L,ARVASTSSON J.,LERNMARK A.,AGARDH C-D,CILIO C. M
- Endocrine journal 52, 155, 2005-10-01
- NAID 10019365029
Related Links
- What Is ADA Deficiency?. Adenosine deaminase (ADA) deficiency is an inherited disorder that affects the immune system. This disorder is considered a type of severe combined immunodeficiency (SCID). Extremely rare and often ...
- adenosine deaminase deficiency adenosine deaminase deficiency A uniformly fatal autosomal dominant [MIM 102700] disease, which consitutes 40% of patients with sever combined immunodeficiency disease. Clinical findings ...
Related Pictures
★リンクテーブル★
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- 英
- adenosine deaminase deficiency
- 同
- ADA欠損症 ADA deficiency
- 関
- アデノシンデアミナーゼ
遺伝
参考
- 1. [charged] Adenosine deaminase deficiency: Pathogenesis, clinical manifestations, and diagnosis - uptodate [1]
- 2. [charged] Adenosine deaminase deficiency: Treatment - uptodate [2]
- 3. ADENOSINE DEAMINASE; ADA - OMIM
- http://omim.org/entry/608958
[★]
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
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アデノシンデアミナーゼ adenosine deaminase
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