Search results for “autoinflammatory”

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2 articles
Spine and Neuroscience Open Access

Challenges in Diagnosis of Neurosarcoidosis

Mar 2024 DOI 10.14302/issn.2694-1201.jsn-22-4184
Ekladious AdelCorresponding author

Sarcoidosis is granulomatous autoinflammatory autoimmune remitting relapsing disease affecting every organ in the body, it is the most difficult disease to diagnose in the absence of serum or imaging biomarker. Differential diagnosis is broad which included inflammatory, infective, neurodegenerative and neoplastic, histological biopsy is the only confirmative marker, and even histological confirmation is not robust as infection, malignancy and some drugs can induce granuloma, the most common organs affected are lung, lymph nodes, skin, eyes, liver, and less commonly pituitary gland, bones, brain, peripheral nerves, and heart, causing bilateral hilar lymphadenopathy, granulomatous lymphadenitis.

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International Journal of Vasculitis Open Access

Deficiency of Adenosine Deaminase Type 2 (ADA2) DADA2 Masquerade as Lupus

Aug 2023
Almabadi BayanCorresponding author

DADA2 (deficiency of adenosine deaminase type 2) is an autoinflammatory autosomal recessive disease resulting from biallelic loss of function mutations in ADA2 gene. Clinical presentation and age of onset vary widely even among related patients, and variability of symptoms and severity manifestations include bone marrow failure, autoinflammation, immunodeficiency and vasculitis. Here, we report a case of young male with adult onset DADA2, who presented with fever, lower limbs skin rash, joint pain, and anemia resembling systemic lupus erythematous (SLE). DADA2 has an extremely variable clinical phenotype. It was described into three categories: inflammatory/vascular, immune dysregulation, and hematologic. However, the data is scant in describing autoimmunity phenotype in DADA2 and further studies are required to investigate the clinical correlation and presence of autoantibodies. We recommend genetic testing in cases with lupus-like disease especially if there is consanguinity between parents and family history of vasculitis.

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