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Primary Immunodeficiency Diseases

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Basics of Hematopoietic Stem Cell Transplant

Abstract

Our bone marrow consists of hematopoietic system and gives rise to various cells by hematopoiesis. If hematopoietic stem cells (HSCs) get damaged or defective, then aplastic anemia or Fanconi anemia can develop. If erythroid progenitors or megakaryocytes are damaged then red cell aplasia or amegakaryocytic thrombocytopenia, respectively, can develop. Primary immunodeficiency diseases (PIDs) are the inherited genetic diseases that result due to defect in pathways involved in the development of innate and adaptive immune system. The cells of immunity develop from HSCs in the bone marrow, but other non-hematopoietic cells like thymic epithelial cells, and mucosal epithelial barriers also play important role in immune mechanisms. Understanding PIDs allow better knowledge of the processes involved in development of immune system as well as the diseases which can develop if the immune system or its components fail. Diseases of innate immune system can lead to defects in neutrophil, macrophage, complement function whereas diseases of T and B cells can lead to defects in cell-mediated immunity and antibody production, respectively. Methods are available to diagnose the qualitative and quantitative defects in the cells of immune system. Treatment of PIDs involves supportive care, enzyme replacement therapy, gene therapy, and stem cell transplant (SCT).

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  1. Department of Hemato-oncology and Bone Marrow Transplantation, Venkateshwar Hospital, New Delhi, Delhi, India

    Sanjeev Kumar Sharma

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Sharma, S.K. (2023). Primary Immunodeficiency Diseases. In: Basics of Hematopoietic Stem Cell Transplant. Springer, Singapore. https://doi.org/10.1007/978-981-19-5802-1_13

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