The purpose of this study is to evaluate people with certain types of immune system disorders.

A drug approved to treat certain autoimmune diseases and cancers successfully alleviated symptoms of a rare genetic syndrome called autoimmune polyendocrine syndrome type 1 (APS-1).

This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation.

This protocol is designed to study the techniques needed to develop gene therapy or other treatments for certain inherited immune system diseases.

This study will examine the symptoms, course of disease and treatment of non-tuberculous mycobacterial (NTM) infections, as well as the genetics involved in these infections.

The pathogenesis of this disease and long-term natural history is being investigated. Therefore, we seek to enroll patients and families with a confirmed or suspected diagnosis of HIES syndrome for extensive phenotypic and genotypic study as well as disease management. 

Researchers involved with the NIAID Clinical Genomics Program study many diseases of the immune system that are rare and not well understood but that often shed light on basic immune function and more common immune disorders. This research is carried out across multiple labs, disease processes, and with many different tools.

The NIAID Clinical Genomics Program centralizes resources to be used for genomics and related research.

The Primary Immunodeficiency (PI) Diseases Registry at US Immunodeficiency Network (USIDNET) collects validated data on all PI diagnoses from patients who give Informed Consent. The de-identified data in the registry is freely disseminated to those with research questions about PI diseases.

The USIDNET Cell Repository, part of the US Immunodeficiency Network (USIDNET), provides a resource of DNA and functional lymphoid cells obtained from patients with various primary immunodeficiency diseases.

The STAT3base contains a listing of STAT3 mutations in human HIES identified in the Laboratory of Clinical Immunology and Microbiology as well as those published in the literature.