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ALLMedicine™ Adenosine Deaminase 2 Deficiency Center

Research & Reviews  23 results

Ischaemic cerebral small vessel disease caused by adenosine deaminase 2 deficiency synd...
European Journal of Neurology; Giossi A, Giliani SC et. al.

Jan 25th, 2023 - Only a small proportion of cerebral small vessel disease (cSVD), a frequent cause of stroke and cognitive or motor disability in adults, is attributable to monogenic conditions. The hereditary nature of a patient's cSVD may be masked by a mild or ...

Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.
Journal of Clinical Immunology; Alabbas F, Alanzi T et. al.

Oct 15th, 2022 - Adenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2 activity due to ADA2 mutations. DADA2 symptoms are variable and include vasculitis, immunodeficiency,...

Polyarteritis nodosa: an evolving primary systemic vasculitis.
Postgraduate Medicine; Springer JM, Byram K

Jun 17th, 2022 - Polyarteritis nodosa (PAN) is a primary form of vasculitis characterized by inflammation of primarily medium-sized arteries. Several key events have shaped the current spectrum of the disease including the separation of a subgroup with microscopic...

Hematopoietic stem cell transplantation in systemic autoinflammatory diseases - the fir...
Expert Review of Clinical Immunology; Signa S, Dell'Orso G et. al.

May 17th, 2022 - Primary immune regulatory disorders encompass a range of clinical conditions caused by different defects of immune regulatory mechanisms, including systemic autoinflammatory diseases (AIDs). Allogeneic hematopoietic stem cell transplantation may b...

Type I interferon-related kidney disorders.
Kidney International; Lodi L, Mastrolia MV et. al.

Mar 28th, 2022 - Type I interferon (IFN-I) mediates tissue damage in a wide range of kidney disorders, directly affecting the biology and function of several renal cell types including podocytes, mesangial, endothelial, and parietal epithelial cells. Enhanced IFN-...

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