Allergy and Immunology Natural History Study

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.

Eligibility

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 acquired abnormality of the immune system, such as cytotoxic chemotherapy or malignancy may be grounds for possible exclusion if, in the opinion of the investigator, the presence of such a disease process would interfere with evaluation.

Conditions4

Locations1 site

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