Natural History Study for Genetic Diseases of Allergic Inflammation and Immune Dysregulation
Columbia University
Summary
This protocol is a natural history study designed to evaluate subjects (and some family members) with suspected or identified genetic diseases of allergic inflammation or Immune Dysregulation. Patients determined by clinical history and outside evaluations to be of interest will be consented and enrolled into this study. Blood specimens, stored blood products and derivatives, saliva, hair, fingernail clippings, cord blood, umbilical cord, bone marrow, tissue biopsies and/or buccal swabs from such patients and/or their family members will be obtained for research studies related to understanding genetic and immunopathogenic bases of these diseases. Outside medical records may be obtained, and patient evaluations may be performed to correlate to research laboratory testing results.
Description
Studying patients with suspected genetic diseases with features of atopy or affecting atopic pathways, both known and novel disorders, will provide critical populations for understanding atopic pathways and mechanisms of allergic inflammation in atopic dermatitis, and atopic diseases in general. This investigation will include patients with atopic diseases and other related syndromes and both their healthy and ill family members. The goal of these studies is to advance understanding of the genetic and immunologic basis of disorders of allergic inflammation, leading to the development of improv…
Eligibility
- Age range
- Up to 99 years
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: * Subjects, ages birth to 99 years old, known to have or suspected of having an inherited disorder of allergic inflammation, or mast cell homeostasis, or activation or immune dysregulation. * Blood relatives of enrolled subjects will be eligible for enrollment. * There will be no discrimination as to age, gender, race, or disability. * Subjects/guardians must be willing and able to give informed consent. * Subjects must agree to have their blood stored for future studies of the immune system and/or other medical conditions. Exclusion Criteria: • The presence of an acquir…
Location
- Columbia University Irving Medical Center / NewYork-Presbyterian HospitalNew York, New York