This page is dedicated to the Immunodeficiencies, Autoimmunity, and Immune Dysregulation research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Immunodeficiencies, Autoimmunity, and Immune Dysregulation research study, established at Boston Children’s in 2019 and led by Drs. Janet Chou and Craig Platt, has enrolled more than 170 patients and their families. The study aims to identify genetic causes of immune disorders and provide personalized medicine.

Disease information

Immunodeficiencies, autoimmunity, and immune dysregulation are a group of inherited conditions affecting the immune system, due to a lack of or dysfunction of white blood cells, which have important roles in fighting infections. The causes of immune disorders may be from both genetic and environmental factors. Genetic causes play a more major role in certain immune disorders like primary immunodeficiencies. Learn more about immunodeficiencies, autoimmunity, and immune dysregulation at Boston Children’s.

Key outcomes

Diagnostic findings have been identified in 35% of patients, of which 35% resulted in changes in treatment plans, candidate findings in 57% of patients that are being further researched, and discoveries of six new genetic causes of primary immunodeficiency.

Participate in research

Physicians may refer their patients with immune disorders to Drs. Chou and Platt. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about their research on Dr. Chou’s research profile and Dr. Platt's publications.

Patient care

Patients and their families with immune disorders can be seen by an expert multidisciplinary team in the Immunology Program at Boston Children’s.

Investigators

Divisions

Notable publications by investigators

Rethinking immunologic risk: a retrospective cohort study of severe SARS-CoV-2 infections in individuals with congenital immunodeficiencies

Disease support organizations

American Autoimmune Related Diseases Association (AARDA)

AARDA is a nonprofit organization dedicated to raising awareness, providing education, and supporting research for autoimmune diseases. They offer resources and support for patients and their families.

American Partnership for Eosinophilic Disorders (APFED)

APFED is a nonprofit organization focused on improving the lives of those with eosinophilic disorders through education, advocacy, and research. They provide support and information for patients, caregivers, and healthcare providers.

APS Foundation of America (APSFA)

APSFA is a nonprofit health agency dedicated to raising awareness and providing support for individuals with Antiphospholipid Syndrome (APS). They offer educational resources, advocacy, and research funding to help those affected by APS.

Immune Deficiency Foundation (IDF)

IDF is a nonprofit organization that supports people with primary immunodeficiencies (PI) by offering education, advocacy, and research. They provide resources to help patients and their families manage their condition and connect with others in the community.

Trusted sites

NORD Report