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  INCLUSION CRITERIA:

  There are three populations that will be included in this study: subjects with known or suspected autoinflammatory diseases, family members of subjects with known or suspected autoinflammatory diseases, and healthy controls.

In order to be eligible to participate in this study as a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria: 1. Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis); 2. Regardless of gender, at least one month of age; 3. A medical history that, in the expert opinion of the study team, is consistent with the possibility of autoinflammatory disease; and. 4. Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document. In order to be eligible to participate in this study as a family member of a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria: 1. Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis); 2. Regardless of gender, at least one month of age; 3. Relationship, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease; 4. Likelihood, in the expert opinion of the study team, that analysis of a sample from the individual would advance genetic or functional analysis of the affected relative s possible autoinflammatory condition; and. 5. Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document. In order to be eligible to participate in this study as a healthy volunteer, an individual must meet all of the following criteria: 1. Stated willingness to participate in study procedures for healthy volunteers; 2. Regardless of gender, at least one year old, and not pregnant (by history of a missed menstrual period); 3. Likelihood, in the expert opinion of the study team, that a sample from the individual would advance the functional analysis of an autoinflammatory condition under study; and. 4. Ability of the subject or parents (in the case of children) to understand and the willingness to sign a written informed consent document.

EXCLUSION CRITERIA:

For any of the three categories of subjects, an individual will be excluded from participation in this study if he or she has a medical condition that would, in the opinion of the investigators, confuse the interpretation of the study.

This is an exploratory natural history protocol that enrolls patients with known or as yet undiagnosed disorders of inflammation. Blood, saliva, or buccal samples will be collected for genetic analysis, blood samples will be obtained for immunologic and other functional studies, a small number of subjects may undergo skin biopsy, leukapheresis, or bone marrow aspiration and biopsy, and some subjects will be provided standard medical care follow up, with retrospective analysis of the clinical data gathered during follow up. The primary objective is to discover the genetic basis of human disorders of inflammation. The secondary objective is to enumerate immunologic features and genotype-phenotype associations in specific autoinflammatory diseases. The tertiary objective is to describe the clinical features of poorly characterized or newly defined disorders of inflammation. This protocol provided clinical support for the identification of the gene mutated in familial Mediterranean fever (FMF), the discovery of the TNF receptor-associated periodic syndrome (TRAPS), the identification of NLRP3 mutations in the neonatal-onset multisystem inflammatory disease (NOMID), the discovery of the deficiency of the IL-1 receptor antagonist (DIRA), and the proposal of the now widely accepted concept of autoinflammatory disease. During the last decade the protocol has provided the clinical foundation for the discovery of ten more monogenic autoinflammatory diseases, seven of which were previously unrecognized as distinct diseases. The protocol has also permitted numerous studies delineating the mechanisms of autoinflammation and its connections with the human innate immune system. The work catalyzed by this protocol has provided the conceptual basis for a number of targeted therapies. During the next decade the objective will be to utilize cutting edge genomic technologies to further advance discovery.

Arms

: Affected

Patients with auto-inflammatory disorders

: Family Members

Family members of patients

: Healthy Volunteers

Healthy Volunteers

Interventions