Genetic susceptibility to critical illness from acute infections

This page is dedicated to the Genetic Susceptibility to Critical Illness from Acute Infections 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 Genetic Susceptibility to Critical Illness from Acute Infections research study, established at Boston Children’s in 2024 and is led by Drs. Janet Chou and Adrienne Randolph.

Disease information

Genetic susceptibility to critical illness from acute infections is a group of inherited conditions affecting the immune system. There are more than 400 rare immunodeficiency disorders, where the lack of or dysfunction of white blood cells, which have important roles in fighting infections, leaves affected individuals vulnerable to recurrent infections. Learn more about genetic immunodeficiency disorders causing susceptibility to critical illness from acute infections.

Participate in research

Physicians may refer their patients with immune disorders to Drs. Chou and Randolph. 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. Randolph's research profile. 

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

  1. A Description of COVID-19-Directed Therapy in Children Admitted to US Intensive Care Units 2020.
  2. Community-Onset Bacterial Coinfection in Children Critically Ill With Severe Acute Respiratory Syndrome Coronavirus 2 Infection.
  3. Pre-existing Immunocompromising Conditions and Outcomes of Acute COVID-19 Patients Admitted for Pediatric Intensive Care.
  4. Risk factors for health impairments in children after hospitalization for acute COVID-19 or MIS-C.
  5. Multisystem Inflammatory Syndrome in Children - Initial Therapy and Outcomes.
  6. NFKB2 haploinsufficiency identified via screening for IFN-α2 autoantibodies in children and adolescents hospitalized with SARS-CoV-2-related complications.
  7. Transcriptomic profiles of multiple organ dysfunction syndrome phenotypes in pediatric critical influenza.
  8. Immunology of SARS-CoV-2 infection in children.
  9. The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children.
  10. Measurement of SARS-CoV-2 antigens in plasma of pediatric patients with acute COVID-19 or MIS-C using an ultrasensitive and quantitative immunoassay.

Disease support organizations

Foundation for Primary Immunodeficiency Diseases

The Foundation for Primary Immunodeficiency Diseases (FPID) supports education, diagnosis, treatment, and research in primary immunodeficiency diseases (PIDs) in India and the U.S.

Immune Deficiency Foundation

The Immune Deficiency Foundation (IDF) improves the diagnosis, treatment, and quality of life for every person affected by primary immunodeficiency by offering resources, education, and support for those with PI, while partnering with clinicians and scientists to conduct research and promote public policy programs.

Trusted sites

NORD Report