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Immune System Diseases Commons

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Full-Text Articles in Immune System Diseases

A Case Of Dock8 Deficiency Treated With Dupilumab, Melissa Anderson, Brandon D. Newell, Hugo Escobar, Erin Stahl, Nikita Raje May 2023

A Case Of Dock8 Deficiency Treated With Dupilumab, Melissa Anderson, Brandon D. Newell, Hugo Escobar, Erin Stahl, Nikita Raje

Research Days

Background: Dedicator of cytokinesis 8 gene (DOCK8) deficiency is an immune disorder associated with autosomal recessive hyper-IgE syndrome, characterized by elevated IgE levels, atopic dermatitis, and predisposition to recurrent skin and lung infections.

Objectives/Goal: A 12-year-old male presented to Immunology clinic for DOCK8 deficiency. He was diagnosed in infancy due to diffuse papulopustular eruption positive for candidiasis and known family history. Past medical history included severe eczematous dermatitis, asthma, interstitial lung disease, food allergies, and poor growth, with cutaneous HSV and fungal infections, HSV keratitis, and MRSA bacteremia. Family history was notable for two siblings with DOCK8 deficiency, both deceased. …


Two Cases Of Severe Combined Immunodeficiency Disease With No Known Variants Identified In Genes Associated With Immunodeficiencies, Megan H. Tucker May 2020

Two Cases Of Severe Combined Immunodeficiency Disease With No Known Variants Identified In Genes Associated With Immunodeficiencies, Megan H. Tucker

Research Days

No abstract provided.