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Adenosine Deaminase Deficiency

Severe combined immunodeficiency due to ADA deficiency
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Adenosine Deaminase Deficiency" returned 6 free, full-text review articles. First few results:
Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity.
Last Updated: Dec 02, 2019

Human adenosine deaminase 1 deficiency was described in the 1970s to cause severe combined immunodeficiency. The residual adenosine deaminase activity in these patients was attributed to adenosine deaminase 2. Human adenosine deaminase type 2 deficiency (DADA2), due to biallelic deleterious ...

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
Last Updated: Mar 16, 2020

Inherited defects in adenosine deaminase (ADA) cause a subtype of severe combined immunodeficiency (SCID) known as severe combined immune deficiency caused by adenosine deaminase defects (ADA-SCID). Most affected infants can receive a diagnosis while still asymptomatic by using an ...

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.
Last Updated: Oct 15, 2019

Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that encodes the adenosine deaminase 2 (ADA2) protein. Over 60 disease-associated mutations have been identified in all ...

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6 Free Review Articles 29 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Adenosine Deaminase Deficiency" returned 1 free, full-text editorial articles. First 1 results:
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1 Free Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Adenosine Deaminase Deficiency" returned 77 free, full-text research articles. First few results:
Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2.
Last Updated: Jul 13, 2020

Çakan M, Aktay-Ayaz N, Karadağ ŞG, Tahir-Turanlı E, Stafstrom K, Bainter W, Geha RS, Chou J. Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. Turk J Pediatr 2019; 61: 413-417. Deficiency of adenosine deaminase 2 (DADA2) ...

A homozygote novel L451W mutation in CECR1 gene causes deficiency of adenosine deaminase 2 in a pediatric patient representing with chronic lymphoproliferation and cytopenia.
Last Updated: Apr 09, 2020

Deficiency of Adenosine Deaminase 2 (DADA2) is a monogenic autoinflammatory disorder characterized by livedo reticularis, skin ulcers, subcutaneous rash, aphthous ulcers, and leukocytoclastic vasculitis, neurological signs such as early onset stroke and polyneuropathy. A minority ...

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77 Free Research Articles 183 Research Articles