J Müller

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Trends

Author Order

Document Type

Co-Authors

Hans Konrad Müller‐Hermelink

University of Würzburg

Cooperative Institutions

University of Würzburg

Universitätsklinikum Würzburg

University of Lübeck

University of Verona

University of Milan

KU Leuven

New York University

Brescia University

University of Brescia

Institut Català d'Oncologia

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Field

[Inborn immunodeficiencies].

PubMed (1991)

Hans Konrad Müller‐Hermelink J Müller

Primary immunodeficiency syndromes may be seen as "experiments of nature", giving insights into the organization and function of the human immune system. The principal categories of primary immunodeficiency syndromes: severe combined immunodeficiency, agammaglobulinemia and isolated T-cell defects (e.g. Di George Syndrome) are still used in view of their leading clinical presentations. However, detailed analysis of individual cases and families now shows a plethora of different diseases in each category. In this review the relationship of primary immunodeficiency diseases of the B-cell system and autoimmune phenomena are discussed. The pathology of thymus in severe combined immunodeficiency is shown: central maturation defects of the T-cell system are not due to "dysplasia" of the thymus but rather to enzyme defects of the lymphatic cells. Severe alterations of the thymus may also be caused by graft versus host disease. The clarification of genetic defects of lymphoid differentiation and maturation today may lead to improved early and prenatal diagnosis as well as specific gene therapy. The success of bone marrow transplantation in many cases of primary immunodeficiency disease syndromes may be considered as a consequence of successful gene therapy.

Primary Immunodeficiency

Immunodeficiency Syndrome

Immunologic Deficiency Syndromes

Source

Cite

Citations (0)