Which of these is not an acquired T-cell deficiency: DiGeorge syndrome or HLA (Human Leukocyte Antigen) class III deficiency?

From the Guidelines

DiGeorge syndrome is a congenital condition, whereas HLA class III deficiency is not typically classified as an acquired T-cell deficiency.

Key Points

• DiGeorge syndrome is characterized by thymic hypoplasia/aplasia, hypoparathyroidism, and congenital heart disease (CHD) 1.
• HLA class III deficiency is not explicitly mentioned in the provided evidence as an acquired T-cell deficiency.
• Acquired T-cell deficiencies are typically associated with conditions such as HIV infection, immunosuppressive therapy, or certain autoimmune disorders.
• DiGeorge syndrome is a congenital condition caused by abnormalities in thymic organogenesis and stromal cell development, resulting in deficient T-lymphocyte immunity 1.
• The evidence provided focuses on congenital and primary immunodeficiencies, rather than acquired conditions 1.

Relevant Evidence

• The European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia highlight the importance of diagnosing and managing congenital T-cell deficiencies, such as DiGeorge syndrome 1.
• The practice parameter for the diagnosis and management of primary immunodeficiency emphasizes the need to distinguish between congenital and acquired immunodeficiencies 1.

Conclusion Not Applicable

Instead, the following is a continuation of the evidence-based answer: It is essential to note that the provided evidence primarily focuses on congenital and primary immunodeficiencies, rather than acquired conditions. Therefore, when considering acquired T-cell deficiencies, it is crucial to look beyond the provided evidence and consider other sources that specifically address acquired immunodeficiencies. In the context of real-life clinical medicine, it is vital to approach patients with suspected immunodeficiencies with a comprehensive evaluation, including a thorough medical history, physical examination, and laboratory tests to determine the underlying cause of the immunodeficiency 1.

From the Research

Acquired T-cell Deficiency

The question asks to identify which of the given options is not an acquired T-cell deficiency: DiGeorge syndrome or HLA (Human Leukocyte Antigen) class III deficiency.

DiGeorge Syndrome

• DiGeorge syndrome is characterized as a congenital T-cell deficiency, not an acquired one 2, 3, 4.
• It is caused by a deletion of chromosome 22q11.2, leading to thymic hypoplasia or aplasia, resulting in impaired T-cell production 2, 3.
• The syndrome is associated with various clinical features, including immunodeficiency, cardiac abnormalities, and facial dysmorphism 2, 3, 4.

HLA Class III Deficiency

• There is no information provided in the given studies about HLA class III deficiency being an acquired or congenital T-cell deficiency.
• However, based on the information provided, DiGeorge syndrome is a congenital T-cell deficiency, whereas the question asks for an acquired T-cell deficiency.

Conclusion Based on Provided Information

• Since DiGeorge syndrome is a congenital T-cell deficiency, it is not an acquired T-cell deficiency.
• Without specific information on HLA class III deficiency in the provided studies, it is difficult to determine if it is an acquired T-cell deficiency.
• However, based on the context of the question, it can be inferred that HLA class III deficiency might be considered an acquired condition, but this is not explicitly stated in the provided studies.
• Therefore, DiGeorge syndrome is the option that is clearly identified as not being an acquired T-cell deficiency 2, 3, 4.