The Pathogenesis and Genetics of Disseminated or Refractory Coccidioidomycosis
Background: \- Coccidioidomycosis is caused by a fungus that grows in the southwest United States and parts of Mexico and South America. This disease is caused by breathing dust containing the fungus. It can lead to serious lung and breathing problems. Rarely, the fungus can infect other body parts. This is called disseminated coccidioidomycosis (DCM). If the fungus stays in the lungs for more than 6 months, it is called refractory coccidioidomycosis (RCM). People with DCM or RCM may have difficulty fighting off infection because of immune system problems. Researchers want to study the immune systems of people with DCM or RCM, to learn more about the disease and the best ways to treat it. They also want to learn more about the types of people that get DCM or RCM and about the fungus that causes it.
Objectives: \- To learn more about DCM and RCM, the fungus that causes these diseases, and the people who get them.
Eligibility: \- People over age 2 with DCM or RCM.
Design: * Participants will be screened with a review of their medical records. * At the initial visit, participants will have: * Medical history and physical exam * Blood and urine tests. Some blood may be used for genetic testing. The samples will not include participants names. Participants will be notified only if the tests show something urgent about their DCM/RCM. Researchers think this sort of problem will be rare. * Questionnaire about their DCM/RCM * Sputum (mucus) collection. They will spit into a cup. * Participants will have 1 follow-up visit per year. They will have blood tests. They may have other procedures to treat their DCM/RCM.
∙ To be eligible for this study, potential participants must meet the following criteria:
• Age greater than or equal to 2 years old.
• a. Enrollment of pediatric patients who are acutely ill or likely to become acutely ill will be deferred until a time when they are considered medically stable by the PI.
• Have a positive Coccidioides antigen load or culture proven (a) refractory pulmonary coccidioidomycosis or (b) disseminated coccidioidomycosis.
‣ Refractory pulmonary coccidioidomycosis must have occurred for at least 6 months and includes progressive pulmonary involvement without significant pulmonary cavitation.
⁃ Disseminated CM is coccidioidomycosis infection in one or more regions outside of the chest.
• Agree to undergo genetic testing.
• Allow their samples to be stored for future research.