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Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)
The Hyper IgE Syndromes (HIES) are primary immunodeficiencies resulting in eczema and recurrent skin and lung infections. Autosomal dominant Hyper IgE syndrome…
A Pilot Study to Evaluate the Safety and Tolerability of Baricitinib in Patients With Job s Syndrome With Lupus-like Disease and/or Atopic Dermatitis
Background: Autosomal dominant hyper-IgE syndrome (HIES), also called Job syndrome, is a genetic disorder that affects the immune system. It can cause skin an…
Genetic Analysis of Immune Disorders
The purposes of this study are to 1) identify the genes responsible for certain immune disorders, 2) learn about the medical problems they cause, and 3) learn …
Safety and Efficacy of Upadacitinib in Treatment of JAK/STAT Pathway Disorders With Activating Mutations
This study focuses on a genetic condition that affects the Janus Kinase-Signal Transducer and Activator of Transcription (JAK-STAT) immune signaling pathway. A…
Novel Genetic Disorders of the Immune System
Background: \- The immune system helps the body fight infection and disease. People with immune system problems can get infections, blood disorders, and other…