Primary immune deficiency diseases (PIDDs) are rare, genetic disorders that impair the immune system. Without a functional immune response, people with PIDDs may be subject to chronic, debilitating infections, such as Epstein-Barr virus (EBV), which can increase the risk of developing cancer. Some PIDDs can be fatal. PIDDs may be diagnosed in infancy, childhood, or adulthood, depending on disease severity.
There are more than 200 different forms of primary immune deficiency diseases (PIDDs) affecting approximately 500,000 people in the United States. These rare genetic diseases may be chronic, debilitating, and costly. Read more about some of the individual PIDDs that NIAID is currently studying.
Since the 1970s, NIAID-supported investigators have been examining the causes and complications of PIDDs to improve the lives of patients and families. NIAID aims to improve diagnosis, explore new treatments and preventions for PIDDs, and facilitate genetic counseling. NIAID is home to the Primary Immune Deficiency Clinic, which provides diagnoses and disease management recommendations to patients and families whose lives are touched by PIDDs.
Highlights
Scientists Discover Cause, Potential Treatment for Cases of Deadly Autoimmune Disorder
Discovery of a gene variant causing some cases of APECED, a rare inherited autoimmune disease, will enable earlier diagnosis & medical care that may prolong lives.
Existing Drug Shows Promise as Treatment for Rare Genetic Disorder
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). Researchers identified the treatment based on their discovery that the syndrome is linked to elevated levels of interferon-gamma (IFN-gamma), a protein involved in immune system responses, providing new insights into
Blood is collected from a newborn for screening.
Screening Newborns for Deadly Immune Disease Saves Lives
Introducing widespread screening of newborns for a deadly disease called severe combined immunodeficiency, or SCID, followed by early treatment boosted the five-year survival rate of children with the disorder from 73% before the advent of screening to 87% since, researchers report. Among children whose disease was suspected because of newborn screening rather than illness or family history, 92.5% survived five years or more after treatment.
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NIAID Centralized Sequencing Program
The NIAID Centralized Sequencing Program serves as a genomics resource for NIAID human subjects research studies to help address interrelated challenges in clinical care and NIAID Intramural research. Any NIAID participant is eligible to receive genome sequencing and associated services through this protocol.
NIH Clinical Research Center
NIAID Primary Immune Deficiency Clinic
For those suspected of having a PIDD, the NIAID Primary Immune Deficiency Clinic offers clinicians specializing in immune deficiency disorders and provides comprehensive consultations with a focus on diagnosis and recommendations for management.