transient hypogammaglobulinemia

Common Signs and Symptoms of Transient Hypogammaglobulinemia (THI)

Transient hypogammaglobulinemia of infancy (THI) is a primary immunodeficiency disorder that affects infants and young children. The main symptoms of THI are related to the immune system's inability to produce sufficient antibodies, leading to recurrent infections.

• Frequent Ear, Sinus, and Lung Infections: Babies with THI typically show symptoms 6 to 12 months after birth, characterized by frequent ear, sinus, and lung infections [1][5].
• Recurrent Upper Respiratory Tract Infections: Children with THI often experience recurrent upper respiratory tract infections, especially ear infections [2][3].
• Lower Respiratory Tract Infections: Lower respiratory tract infections are also common in children with THI [3].
• Growth Retardation: Some children with THI may experience growth retardation due to chronic infections and inflammation [4].
• Increased Risk of Autoimmune Disorders: Individuals with THI have an increased risk of developing autoimmune disorders, such as allergies, asthma, and gastrointestinal problems [5][6].

These symptoms are often the result of the immune system's inability to produce sufficient antibodies to fight off infections. If left untreated, THI can lead to more severe complications, including chronic diseases and organ damage.

References:

[1] Context 1: Babies that are born with THI first show symptoms about 6 to 12 months after birth. [2] Context 3: In children with symptoms, recurrent upper respiratory tract infections are commonly seen, especially ear infections. [3] Context 5: Common infections include: lower respiratory tract infections, such... [4] Context 9: Symptoms of hypogammaglobulinaemia · Unexplained signs such as hepatosplenomegaly or arthropathy. [5] Context 10: What are the symptoms? The most common

Diagnostic Tests for Transient Hypogammaglobulinemia

Transient hypogammaglobulinemia, also known as transient hypogammaglobulinemia of infancy (THI), is a condition characterized by low levels of immunoglobulins in infants. The diagnostic tests for THI are crucial to confirm the diagnosis and rule out other conditions.

Blood Tests

• Blood tests are essential in diagnosing THI, including:
  • Blood counts: To evaluate the overall health of the infant's blood cells.
  • Antibody tests: To measure the levels of immunoglobulins (IgG, IgA, and IgM) in the blood. [1][2]
  • Tests to check organ function: To rule out any underlying conditions that may be affecting the infant's immune system.

Imaging Procedures

• Imaging procedures may also be used to evaluate the infant's overall health and rule out other conditions.

Laboratory Investigation

• A laboratory investigation of a patient with THI includes:
  • Assessment of immunoglobulin levels: To confirm low levels of IgG, IgA, and IgM. [3][4]
  • B-cell function tests: To evaluate the production of antibodies in response to vaccines. [5]

Confirming Diagnosis

• The diagnosis of THI is confirmed by:
  • Low serum Ig levels (at least 2 standard deviations below the mean for age). [6]
  • Blood tests showing low antibody titers in response to immunization (tetanus, etc.). [7]

In summary, diagnostic tests for transient hypogammaglobulinemia include blood tests, imaging procedures, and laboratory investigations. These tests help confirm the diagnosis of THI by evaluating the levels of immunoglobulins and B-cell function.

References: [1] - Context 1 [2] - Context 2 [3] - Context 3 [4] - Context 4 [5] - Context 8 [6] - Context 4 [7] - Context 9

Differential Diagnosis of Transient Hypogammaglobulinemia

Transient hypogammaglobulinemia of infancy (THI) is a primary immunodeficiency that can be challenging to diagnose due to its similar clinical aspects with other forms of hypogammaglobulinemias. A differential diagnosis must be carried out to rule out secondary causes of hypogammaglobulinemia.

Key Points to Consider:

• Primary vs. Secondary Hypogammaglobulinemia: THI is a primary immunodeficiency, whereas secondary hypogammaglobulinemia is caused by underlying conditions such as autoimmune disorders or infections.
• Clinical Aspects: THI can present with similar clinical aspects as other forms of hypogammaglobulinemias, making differential diagnosis crucial.
• Laboratory Diagnosis: THI is diagnosed based on low IgG levels, which are typically lower than 95% of children of similar age.

Differential Diagnoses to Consider:

• X-linked or Autosomal Recessive Agammaglobulinemia: These conditions can be identified by low to absent B cells on flow cytometry and confirmed with genetic analysis.
• Hypogammaglobulinemia after Chemotherapy: This condition is characterized by low immunoglobulin levels following chemotherapy treatment.

Important Considerations:

• Self-Limited Disorder: THI is a self-limited disorder, meaning that the diagnosis cannot be made with confidence until after a full laboratory and clinical recovery.
• Differential Diagnosis Puzzling: Differential diagnosis can be puzzling due to similar clinical aspects in primary and secondary forms of hypogammaglobulinemias.

References:

[8] by A Ovadia · 2014 · Cited by 15 — Differential diagnosis​​ By definition, THI is a self-limited disorder. Unfortunately, this diagnosis cannot be made with confidence until after a full laboratory and clinical recovery. [14] DIFFERENTIAL DIAGNOSIS — THI at presentation should be distinguished from other permanent forms of hypogammaglobulinemia . Cases of X-linked or autosomal recessive agammaglobulinemia can be identified with relative ease by identifying low to absent B cells on flow cytometry and by confirming the diagnosis with genetic analysis [ 43-45 ]. [15] Transient hypogammaglobulinemia of infancy (THI) was first described as a distinct entity by Gitlin and Janeway in 1956. ... Differential diagnosis. By definition, THI is a self-limited disorder. Unfortunately, this diagnosis cannot be made with confidence until after a full laboratory and clinical recovery.