Adenosine deaminase deficiency
Adenosine deaminase deficiency (ADA deficiency) is a metabolic disorder that causes immunodeficiency. It is caused by mutations in the ADA gene. It accounts for about 10–15% of all cases of autosomal recessive forms of severe combined immunodeficiency (SCID) among non-inbred populations. ADA deficiency can present in infancy, childhood, adolescence, or adulthood. Age of onset and severity is related to some 29 known genotypes associated with the disorder. It occurs in fewer than one in 100,000 live births worldwide.
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2016 in scienceADA-SCIDADA deficiencyAdenosine1,2-dimethoxyethaanAdenosine deaminase 2 deficiencyChromosome 20CladribineClaudio Bordignon1,2-dimethoxyethaan1,2-dimethoxyethaanElapegademaseEloise GiblettEmerging technologiesEnzyme replacement therapyGene therapyGenetically modified organismGenetically modified virusHypogammaglobulinemiaIndex of molecular biology articlesLightwood–Albright syndromeList of diseases (A)List of gene therapiesNucleic acid metabolismPurine nucleoside phosphorylase deficiencySevere combined immunodeficiencyStrimvelis
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Adenosine deaminase deficiency
Adenosine deaminase deficiency (ADA deficiency) is a metabolic disorder that causes immunodeficiency. It is caused by mutations in the ADA gene. It accounts for about 10–15% of all cases of autosomal recessive forms of severe combined immunodeficiency (SCID) among non-inbred populations. ADA deficiency can present in infancy, childhood, adolescence, or adulthood. Age of onset and severity is related to some 29 known genotypes associated with the disorder. It occurs in fewer than one in 100,000 live births worldwide.
has abstract
Adenosine deaminase deficiency ...... 100,000 live births worldwide.
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Der Hereditäre Adenosindesamin ...... ter W. H. Hitzig und H. Willi.
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Il deficit dell'enzima ((ADA-s ...... tare il contatto con patogeni.
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La inmunodeficiencia combinada ...... provocan síntomas parecidos.
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Le déficit en adénosine désami ...... onctionnement des lymphocytes.
@fr
SCID/ADA (ciężki złożony niedo ...... czona autosomalnie recesywnie.
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عوز نازعة أمين الأدينوزين اضطر ...... اثي معروف مرتبط بهذا الاضطراب.
@ar
腺苷脱氨酶缺乏症(英語:Adenosine deaminas ...... 成年期時才發病。發病年齡和嚴重程度與該疾病相關的基因型有關。
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DiseasesDB
geneReviewsId
geneReviewsName
Adenosine Deaminase Deficiency
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ICD10
OMIM id
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1,000,512,670
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DiseasesDB
GeneReviewsName
Adenosine Deaminase Deficiency
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GeneReviewsNBK
NBK1483
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ICD
name
Adenosine deaminase deficiency
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OMIM
synonyms
ADA deficiency or ADA-SCID
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Adenosine deaminase deficiency ...... 100,000 live births worldwide.
@en
Der Hereditäre Adenosindesamin ...... ter W. H. Hitzig und H. Willi.
@de
Il deficit dell'enzima ((ADA-s ...... le patologia, sono costretti a
@it
La inmunodeficiencia combinada ...... provocan síntomas parecidos.
@es
Le déficit en adénosine désami ...... onctionnement des lymphocytes.
@fr
SCID/ADA (ciężki złożony niedo ...... czona autosomalnie recesywnie.
@pl
عوز نازعة أمين الأدينوزين اضطر ...... اثي معروف مرتبط بهذا الاضطراب.
@ar
腺苷脱氨酶缺乏症(英語:Adenosine deaminas ...... 成年期時才發病。發病年齡和嚴重程度與該疾病相關的基因型有關。
@zh
label
Adenosine deaminase deficiency
@en
Deficit di adenosina deaminasi
@it
Déficit immunitaire combiné sévère par déficit en adénosine désaminase
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Hereditärer Adenosindesaminase-Mangel
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Inmunodeficiencia combinada grave por déficit de adenosina desaminasa
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Niedobór deaminazy adenozynowej
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عوز نازعة أمين الأدينوزين
@ar
腺苷脱氨酶缺乏症
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Adenosine deaminase deficiency
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