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Antibody Deficiency – Causes, Symptoms & Treatment

Antibody deficiency is a condition in which the immune system produces insufficient antibodies, increasing susceptibility to recurrent infections. It can be inherited or acquired.

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Things worth knowing about "Antibody Deficiency"

Antibody deficiency is a condition in which the immune system produces insufficient antibodies, increasing susceptibility to recurrent infections. It can be inherited or acquired.

What is Antibody Deficiency?

Antibody deficiency (medically known as antibody deficiency syndrome or hypogammaglobulinaemia) is a condition in which the body does not produce enough antibodies (immunoglobulins). Antibodies are proteins made by specific white blood cells called B-lymphocytes. They are essential for fighting infections caused by bacteria, viruses, and fungi. When antibody levels are insufficient, the immune system is less able to protect the body from illness.

Causes

Antibody deficiency can be either congenital (primary) or acquired (secondary):

Primary antibody deficiency: These are genetic conditions affecting the immune system. Common forms include Common Variable Immunodeficiency (CVID), selective IgA deficiency, and X-linked agammaglobulinaemia (Bruton disease).
Secondary antibody deficiency: This develops as a result of other diseases or treatments, such as blood cancers (leukaemia, multiple myeloma), chronic kidney disease, malnutrition, organ transplantation, or the use of immunosuppressive medications or rituximab.
Physiological antibody deficiency: Newborns experience a temporary antibody deficiency in the first months of life, as maternal antibodies are gradually broken down while the infant immune system matures.

Symptoms

Symptoms depend on the severity of the deficiency. Common signs include:

Frequent, recurrent respiratory tract infections (bronchitis, pneumonia, sinusitis)
Infections caused by unusual or rare pathogens
Prolonged illnesses and poor response to antibiotic treatment
Chronic gastrointestinal infections and diarrhoea
Inflammatory joint disease (arthritis)
General fatigue and weakness

Diagnosis

Diagnosing antibody deficiency typically involves the following steps:

Blood tests: Measurement of immunoglobulin levels (IgG, IgA, IgM, IgE) in the blood.
Flow cytometry: Analysis of B- and T-lymphocyte counts and function.
Vaccine antibody titres: Assessment of whether the body produces adequate antibodies following vaccination.
Genetic testing: Molecular genetic analysis may be performed when a congenital immune deficiency is suspected.

Treatment

Treatment is tailored to the underlying cause and severity of the deficiency:

Immunoglobulin replacement therapy: In cases of severe antibody deficiency, immunoglobulins are regularly administered intravenously (IVIG) or subcutaneously (SCIG) to compensate for the missing immune protection.
Antibiotic prophylaxis: Preventive antibiotic therapy may be used in some patients to reduce the risk of recurrent infections.
Treatment of the underlying condition: In secondary forms, addressing the root cause is the primary focus of treatment.
Stem cell transplantation: For certain severe congenital immunodeficiencies, allogeneic stem cell transplantation may be considered.

References

European Society for Immunodeficiencies (ESID): Guidelines for the Diagnosis and Management of Primary Immunodeficiency. esid.org (2023).
Bonilla FA et al. - Practice parameter for the diagnosis and management of primary immunodeficiency. Journal of Allergy and Clinical Immunology, 136(5):1186-1205 (2015).
World Health Organization (WHO): Primary immunodeficiency diseases. who.int (2022).

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