An observational study in Immune Deficiency, Immune Dysregulation Disorder and Allergic Inflammation, sponsored by Columbia University. Recruiting at 1 site in United States. Open to participants aged Up to 99 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-02-04.
Sponsored by Columbia University · Observational
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:
204 studies on the registry are indexed under Immunologic Deficiency Syndromes; 50 are open to participants now.
This study's planned enrollment of 10,000 is above the median of 181 across 72 observational studies indexed under Immunologic Deficiency Syndromes.
Browse Immunologic Deficiency Syndromes studies →Columbia University is the lead sponsor of 1,136 studies on the registry; 195 are open to participants now.
Of its 180 completed or terminated interventional studies of FDA-regulated products, 148 (82%) have results posted.
Counted across the registry records on this site, refreshed daily.
The total study population for this protocol is up to 10,000 subjects. It is estimated that one half of the total study population will consist of subjects, with the remaining half being biological relatives. Subjects and relatives may be enrolled.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Cancer (malignancy)
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients and blood relatives with disorders of allergic inflammation and immune dysregulation.
Total number of underlying susceptibility trait(s) identified
The primary endpoint will be the determination of the underlying susceptibility trait(s).
Time frame: Up to 1 year
Plan to share: No
No publications or documents are linked to this record.
Started Jul 2010 (actual). Primary completion is estimated for Jan 2027, 198 months after the start.
Of 38 observational studies under Immunologic Deficiency Syndromes, half reached primary completion within 77 months of starting (the median), counting those still running; a quarter within 53. This study's planned 198 months is above that.
How these figures are worked out, and which studies are left out of them.
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Immunologic Deficiency Syndromes →