As a young child, the patient had eczema, allergies, and asthma. At age 19, her symptoms started to get much worse. She developed severe itchy skin inflammation (atopic dermatitis) on her face and entire body. This inflammation improved with cyclosporine, but came back when the medication dose was lowered. The … read more
The participant was born at term after an uncomplicated pregnancy and delivery. Shortly after birth he was noted to have low muscle tone (hypotonia) and feeding difficulties, and was treated with physical therapy. He began to have seizure episodes (generalized tonic-clonic) at 2 months old after developing a fever following … read more
As an infant, the participant was very unhappy, often screaming and appearing uncomfortable. She met early developmental milestones, but had problems with coordination (ataxia) and displayed a tremor (action tremor) when reaching for items. Following an illness around 9 months of age, the participant appeared to regress in skills, which … read more
