Shortly after birth, the participant was found to have low blood platelet levels (thrombocytopenia), anemia, a heart defect (atrial septal defect), low muscle tone (hypotonia), cataracts, and a blueberry muffin rash. She required transfusions with packed red blood cells and platelets for anemia and nasogastric intubation (NG tube) for feeding. … read more
Around age 60, the patient started having recurrent episodic fevers, with associated muscle/joint pain and a hive-like rash across his upper chest and abdomen that would come and go with the fevers. He had extensive evaluation for occult infection or malignancy that was unrevealing. He was trialed on numerous immunosuppressive … read more
Prenatally the participant was diagnosed with dilated loops of his bowel with a diffusely thickened wall. Prenatal testing for infections (toxoplasmosis, cytomegalovirus) and cystic fibrosis was negative. During the first week of his life, the participant underwent surgery (exploratory laparotomy) to examine his organs and he was found to have a … read more
