The adoptive parents were so excited when the new infant son was placed in their arms and they took him home. As far as everyone knew, the baby was healthy and was growing at an acceptable rate. However, at about 6 months, he started experiencing numerous infections. A review of the biological mother’s past history does not reveal any clues and the father’s history is unavailable, so the parents agree to genetic testing to determine if there might be a genetic reason for these infections.


In this case study, we examine the situation of adoptive parents who have noticed that their infant son is experiencing frequent infections. Unable to find any clues in the biological mother’s history, the parents opt for genetic testing to explore the potential genetic causes of these infections. This paper aims to discuss the importance of genetic testing in such cases and explore the possible genetic conditions that may contribute to recurrent infections in infants.

Genetic Testing in the Context of Recurrent Infections in Infants

Genetic testing plays a significant role in diagnosing and understanding various medical conditions, including those relating to immunodeficiency and recurrent infections. When faced with a situation where an infant is experiencing multiple infections, genetic testing can help identify potential underlying genetic defects that compromise the immune system’s ability to respond effectively to pathogens.

Immunodeficiency disorders can be categorized into two types: primary (also known as primary immunodeficiency disorders) and secondary (acquired immunodeficiency disorders). Primary immunodeficiency disorders are mainly caused by genetic defects that affect the development or functioning of components of the immune system. In contrast, secondary immunodeficiency disorders are usually a result of external factors such as infections, medications, or other medical conditions (Guthery & Yueh, 2017).

Since the infant in question does not have any known medical conditions or exposure to factors that could lead to secondary immunodeficiency, genetic testing seems to be an appropriate step to investigate potential primary immunodeficiency disorders. By examining the genetic makeup of the infant, it is possible to identify genetic mutations or variations that may disrupt the immune system’s normal functioning and contribute to recurrent infections.

Potential Genetic Causes of Recurrent Infections in Infants

There are several primary immunodeficiency disorders that could potentially cause recurrent infections in infants. These disorders can affect different components of the immune system, such as B cells, T cells, or innate immunity. The following are some examples of genetic conditions that may lead to recurrent infections:

1. Severe Combined Immunodeficiency (SCID): SCID is a severe and rare primary immunodeficiency disorder characterized by a complete or near-complete absence of functional T cells, B cells, and natural killer (NK) cells. It is often caused by mutations in genes involved in T cell receptor development or signaling, such as IL2RG, JAK3, or ADA (Kwan et al., 2014). Without functional T and B cells, individuals with SCID are unable to mount an immune response, resulting in severe and recurrent infections.

2. Common Variable Immunodeficiency (CVID): CVID is a primary immunodeficiency disorder characterized by low levels of immunoglobulins (antibodies) and an increased susceptibility to infections. It is a heterogeneous disorder with multiple genetic causes, including mutations in genes involved in B cell development or antibody production, such as ICOS, CD19, or CD81 (Cunningham-Rundles et al., 2019). Individuals with CVID may experience recurrent respiratory tract infections, gastrointestinal infections, or other infectious complications.

3. Hyper-IgM Syndrome: Hyper-IgM syndrome is a group of primary immunodeficiency disorders characterized by elevated levels of IgM antibodies but deficient IgG, IgA, and IgE antibodies. It is often caused by mutations in genes involved in the class switching process of B cells, such as CD40L, CD40, or AID (Cachero et al., 2019). Without the ability to produce sufficient levels of IgG antibodies, individuals with hyper-IgM syndrome are more susceptible to various types of infections.


In conclusion, when faced with a situation where an infant is experiencing recurrent infections, genetic testing can play a crucial role in identifying potential underlying genetic causes. Through genetic testing, it is possible to diagnose primary immunodeficiency disorders that may compromise the immune system’s ability to respond effectively to infections. Some examples of genetic conditions that may contribute to recurrent infections in infants include SCID, CVID, and hyper-IgM syndrome. Identifying these genetic causes can not only provide insights into the underlying mechanism but also guide appropriate treatment and management strategies for the affected individual.

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