Podcast
Questions and Answers
What is the significance of timely diagnosis and therapy initiation for patients with XLA?
What is the significance of timely diagnosis and therapy initiation for patients with XLA?
Which of the following symptoms is most indicative of XLA in patients evaluated at a young age?
Which of the following symptoms is most indicative of XLA in patients evaluated at a young age?
At what age should patients suspected of having sporadic XLA begin receiving adequate therapy?
At what age should patients suspected of having sporadic XLA begin receiving adequate therapy?
What proportion of patients in a study had symptoms of XLA before 4 months of age?
What proportion of patients in a study had symptoms of XLA before 4 months of age?
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What should be assessed if a patient presents with episodes of chronic otitis and sinusitis?
What should be assessed if a patient presents with episodes of chronic otitis and sinusitis?
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What is the primary characteristic of X-linked agammaglobulinemia (XLA)?
What is the primary characteristic of X-linked agammaglobulinemia (XLA)?
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What role does Bruton's tyrosine kinase (Btk) play in XLA?
What role does Bruton's tyrosine kinase (Btk) play in XLA?
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What was the mean age at diagnosis for the 60 patients with sporadic XLA?
What was the mean age at diagnosis for the 60 patients with sporadic XLA?
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Which of the following infections was NOT reported as common among the hospitalized patients?
Which of the following infections was NOT reported as common among the hospitalized patients?
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What was the purpose of detecting mutations in Btk?
What was the purpose of detecting mutations in Btk?
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Which combination of symptoms was commonly found in patients before diagnosis?
Which combination of symptoms was commonly found in patients before diagnosis?
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How many patients with a family history of immunodeficiency were included in the study?
How many patients with a family history of immunodeficiency were included in the study?
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What was noted about serum immunoglobulin concentrations at diagnosis?
What was noted about serum immunoglobulin concentrations at diagnosis?
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Study Notes
X-Linked Agammaglobulinemia (XLA)
- XLA is a primary immunodeficiency characterized by severely decreased serum immunoglobulins (IgM, IgG, IgA) and absent or barely detectable tonsils and cervical lymph nodes.
- It is caused by mutations in the XLA gene, Bruton's tyrosine kinase (Btk).
- XLA is maintained in the population by new mutations in the Btk gene.
- Detection of mutations in Btk can facilitate genetic counseling in affected patients.
Clinical Presentation of XLA
- Most patients with XLA are not recognized to have immunodeficiency until they are hospitalized for infection.
- Chronic otitis and sinusitis are relatively common in patients with XLA.
- Patients with chronic otitis and sinusitis should be carefully evaluated for lymphoid tissue.
- Patients with unusually small or absent lymph nodes and cervical lymph nodes should be referred for further evaluation.
- 25% of patients with sporadic XLA have symptoms before 4 months of age.
- Patients with XLA should start receiving adequate therapy by 6 to 8 weeks of age.
Diagnosis and Therapy of XLA
- A timely diagnosis of XLA with immediate initiation of therapy is essential.
- Delayed or suboptimal therapy can lead to long-lasting problems.
- Gammaglobulin replacement therapy is the primary treatment for XLA.
Study Findings
- A study of 82 patients with proven mutations in Btk found that the mean age at diagnosis in patients with sporadic XLA was 35 months.
- The study also found that the types of infections that led to hospitalization in these patients were more varied than in younger patients.
- Patients were hospitalized for pneumonia, arthritis, meningitis, febrile seizures, perirectal abscess, and immunodeficiency.
- Serum Ig concentrations at diagnosis were difficult to compare as many patients had undetectable IgM, IgG, and IgA.
- The threshold for detection varied, but the mean IgM and IgG were almost identical in the youngest group.
Familial XLA
- 22 patients with familial XLA were diverse.
- Seven patients were evaluated in the first 2 months of life, and five were evaluated for immunodeficiency shortly after the proband was recognized to have XLA.
- The affected relative was more distantly related, including cousins, uncles, and great-uncles.
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Description
This quiz covers the characteristics, clinical presentation, and genetic implications of X-Linked Agammaglobulinemia (XLA). Learn about the immunodeficiency, common symptoms, and the role of Bruton's tyrosine kinase mutations. It's essential for understanding patient evaluation and management.
