Natural History Study for Genetic Diseases of Allergic Inflammation and Immune Dysregulation

  • End date
    Jan 1, 2025
  • participants needed
  • sponsor
    Columbia University
Updated on 28 October 2022
inherited disease
Accepts healthy volunteers


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.


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 improved methods for the diagnosis and management of patients with atopic diseases, immunodeficiency, and immune dysregulatory diseases. Immune dysregulation diseases comprise a group of disorders that can trigger defective or uncontrolled immune responses and are characterized by autoimmunity, episodes of recurrent autoinflammation, dysregulation of lymphocyte homeostasis, or hypersensitivity reactions. In addition to classical atopy, the investigators also use this line of research to further study other abnormalities affecting immune dysregulation. Patients with idiopathic anaphylaxis are also of interest.

The continued dissection of the genetic and biochemical bases of known and, as yet, undiscovered defects will have an impact beyond the mast cell and will contribute to the development of new therapies. This investigation will include patients with these and other related syndromes and both their healthy and ill family members. Moreover, these studies will continue to provide a wealth of information about the regulation of allergy and mast cell homeostasis in normal individuals. Research into these fundamental processes will help provide an understanding of how conditions of immediate hypersensitivity and cancers generally arise, and could lead to new preventative measures, diagnostic tests, treatments, or cures for these conditions.

The investigators propose to evaluate subjects who may have, or are suspected of having, inherited diseases of allergic inflammation or Immune Dysregulation which may include the following diseases:

  • Autoimmune diseases
  • Anaphylaxis
  • Allergy
  • Asthma
  • Atopic dermatitis
  • Allergic rhinitis
  • Food allergy
  • Immunodeficiency diseases
  • Immunodysregulatory diseases
  • Piebaldism
  • Urticaria/angioedema

Condition Immune Deficiency, Immune Dysregulation Disorder, Allergic Inflammation
Clinical Study IdentifierNCT05584488
SponsorColumbia University
Last Modified on28 October 2022


Yes No Not Sure

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
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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