Skip to main content

Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email

All Diseases > Primary Immune Deficiency Disorders

Primary Immune Deficiency Disorders (PID)

Disease Category: Primary Immune Deficiency Disorders

A term describing a group of over 400 rare, chronic disorders of varying severities, caused by inherited genetic defects. They are all characterized by weakened or absent immune systems that cannot properly protect the body from viruses, fungi, or bacteria. This results in recurrent, persistent, sometimes life-threatening infections. Common symptoms include pneumonia, bronchitis, meningitis, chronic diarrhea, skin rashes, oral thrush (a fungal mouth infection), and frequent infections of the sinuses and ears.

Research groups studying this disease

Genetic Mucociliary Disorders
GDMCC logo

Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)


A collaboration between pulmonologists and immunologists across the consortium, the project will systematically characterize the clinical phenotype and laboratory profile of patients with chronic suppurative respiratory diseases that are typically referred to pediatric and adult pulmonologists. A primary goal of this project is to identify the genetic basis of suppurative respiratory disease, including those with primary ciliary dyskinesia, primary immunodeficiencies, and other genetic disorders that interfere with airway defenses in patients without a confirmed genetic cause for their disease. This one-visit study includes a comprehensive medical history, physical exam, spirometry, nasal nitric oxide measurements, laboratory testing for genetics and immunologic evaluation, and a chest CT.

A collaboration between pulmonologists, immunologists, and otolaryngologists at four sites, this project is designed to comprehensively define and compare the clinical manifestations and morbidity of upper airway involvement in primary ciliary dyskinesia and primary immunodeficiencies. The main objective of this project is to collect critical data to inform the design of future clinical trials that treat upper airway disease in these conditions. This one-visit study will include a comprehensive medical history, targeted ENT physical, nasal endoscopy, mucus sample collection, nasal nitric oxide, smell identification testing, audiology assessment and a sinus CT.

Improves the diagnosis, treatment, and quality of life of people affected by primary immunodeficiency.

Primary Immune Deficiency Disorders
PIDTC logo

Primary Immune Deficiency Treatment Consortium (PIDTC)


This study focuses on the natural history of patients with PIRD to help collect data on ideal therapies for these patients. There are two groups that are being studied. The first group enrolls patients who have clinical symptoms commonly seen in PIRD. These patients can have a known or unknown genetic defect. We will collect retrospective data from the medical chart and follow these patients over time prospectively. This study will help characterize the clinical symptoms and responses to treatments both medications and bone marrow transplant. The study will collect data yearly from the clinical record. There will also be research samples at the start of enrollment and one year later. If the patient receives a bone marrow transplant, research samples will be collected one month prior to transplant and a year later. The second group is focused on family members of PIRD patients enrolled in the first group with a known genetic mutation. These family members will have the same genetic change but do not have clinical symptoms of PIRD. These participates will answer yearly questionnaires to monitor of symptoms.

Individuals with a possible diagnosis of severe combined immune deficiency (including infants who were identified by newborn screening) may be eligible to be enrolled on the PIDTC research study 6907. Speak to your doctor to determine if you / your child may be eligible.  Protocol 6907 follows all patients with SCID, meaning the 6907 study enrolls participants regardless of whether they have already received a blood and marrow transplant (BMT), enzyme replacement therapy (ERT), or gene therapy (GT). Patients are then followed after diagnosis and treatment according to standard of care recommendations, which typically align with a schedule set out by the study protocol. The times the study requests follow up will be the same as when your doctor would want to be seeing you / your child as part of their regular ongoing medical care. Patients with “leaky SCID” (a form of SCID with T cell numbers less severely compromised) and Omenn syndrome are also eligible to participate in 6907. The 6907 research study does NOT dictate how your / your child’s doctors should treat you / your child, as the PIDTC recognizes that there are many complex factors that go into this decision.  The decision about how you / your child with SCID will be treated is made by your doctor.  The 6907 study simply follows how you / your child do over time.  There are no experimental therapies on this study.

Chronic Granulomatous Disease (CGD) is an inherited condition characterized by a defect of specific white blood cells called neutrophils. Neutrophils are important for the killing of bacterial and fungal infections. In CGD, the neutrophils are unable to make the hydrogen peroxide needed to kill bacteria and fungi. Patient with CGD are, therefore, highly susceptible to infections from certain bacterial and fungal organisms. Patients with CGD have normal immunity to other microbes, including viruses. As a result, patients with CGD have normal immunity against common infections like the common cold or stomach flu (the majority of which are caused by viruses). Children with CGD are usually healthy at birth; however, they typically develop serious bacterial and fungal infections in early childhood that are difficult to treat. Patients may have severe or frequent infections.

Seeks to improve the treatment, quality of life, and long-term outlook for children and adults living with hyper IgM.

Advocates for patients and carriers with chronic granulomatous disease (CGD).

Improves the diagnosis, treatment, and quality of life of people affected by primary immunodeficiency.

Works to improve treatment, diagnosis, and find a cure for primary immunodeficiency through research, education, support, advocacy, awareness, and newborn screening.

Funds research to find improved cures for Wiskott-Aldrich syndrome and supports families living with the disease around the world.

The only global patient organization dedicated to empowering every SCID patient to strive for the highest possible quality of life.

XLA Life is uniting the global XLA community in community-based activism and community-focused advocacy.