Some children seem to catch every infection that goes around. When illnesses happen often, last longer than expected, or require repeated antibiotics, it may be a sign the immune system needs a closer look.
Primary immunodeficiencies affect how the body fights infection, sometimes from birth. At Westchester Medical Center Health Network (WMCHealth), pediatric specialists evaluate immune health early and coordinate care to help guide families through diagnosis and treatment.
What Are Primary Immunodeficiencies?
Primary immunodeficiencies are conditions in which part of the immune system does not work as it should. This may involve having too few immune cells, cells that do not function properly, or an immune system that needs more time to mature.
These conditions are often present from birth, though symptoms may appear later in infancy or childhood. Some children require treatment, while others are monitored over time.
Types of Immunodeficiencies
Primary immunodeficiencies are often grouped by which part of the immune system is affected. These categories help guide testing and treatment.
Antibody (B Cell) Deficiencies
These conditions affect the body’s ability to produce antibodies that fight infection. Children may experience frequent ear, sinus, or lung infections.
T Cell Deficiencies
T cell disorders affect how the immune system responds to viruses, fungi, and certain bacteria. Infections may be more severe or harder to treat.
Combined Immunodeficiencies
Combined immunodeficiencies involve both B cells and T cells. Severe combined immunodeficiency is one example identified through newborn screening.
Phagocytic Disorders
These conditions affect immune cells that help destroy bacteria and fungi. Children may develop deep skin infections or abscesses.
Complement Deficiencies
Complement disorders affect proteins that help immune cells work together. Some children may have recurrent bacterial infections or autoimmune symptoms.
Causes of Primary Immunodeficiencies
Primary immunodeficiencies are usually caused by differences in how the immune system develops or functions. These differences are often present at birth and are not caused by infections, lifestyle, or parenting choices.
Common underlying causes may include:
- Genetic changes that affect immune cell development or function
- Conditions that interfere with how immune cells communicate
- Delayed maturation of the immune system in infancy or early childhood
Some immunodeficiencies occur on their own, while others are associated with additional health conditions affecting multiple systems of the body.
Diagnosing Primary Immunodeficiencies
Early identification of immune conditions helps guide timely care. Diagnosis may begin at birth through newborn screening or later in childhood based on infection patterns.
Newborn screening includes testing for severe combined immunodeficiency, a rare but serious immune disorder. WMCHealth serves as the primary evaluation center for abnormal newborn screening results in Westchester County, coordinating next steps with pediatricians and families.
Evaluation usually starts with a comprehensive blood test that assesses immune cell number and function. Additional testing is recommended only when needed.
Treatment for Primary Immunodeficiencies
Treatment for primary immunodeficiencies reflects the complexity of the immune system itself. Care plans are designed to be flexible, adjusting as immune function changes over time.
As the region’s only advanced care children’s hospital, WMCHealth offers multidisciplinary pediatric care under one roof. Immunology specialists collaborate closely with allergy, pulmonology, infectious disease, gastroenterology, endocrinology, rheumatology, and hematology-oncology to streamline evaluations and treatment decisions.
Treatment options may include:
- Ongoing monitoring: Regular evaluation helps determine whether the immune system is developing normally or requires intervention.
- Supportive therapies: Medications or immune infusions may help reduce infections and support immune function.
- Immunomodulation: Therapies that adjust immune activity may be used in specific conditions.
- Bone marrow transplantation: Replacing damaged or non-functioning immune cells with healthy donor cells may help restore immune function in certain severe immunodeficiency disorders.
- Advanced interventions: Gene therapy may be considered for severe or complex immunodeficiencies, often with fewer complications when addressed early.