Primary Immunodefiencies for the Hematologist: Finding the Needle in the Haystack
Hematologists frequently are called upon to assess patients with symptoms that may arise from underlying immunodeficiency or immune dysregulation. While the genetic basis of these disorders remains unknown in many cases, increasingly an underlying genetic cause either due to novel genes or to hypomorphic mutations in known genes can be elucidated. This in turn may open the door for targeted or definitive treatment.
Dr. Luigi Notarangelo will discuss monogenic forms of primary immunodeficiency in which autoimmune cytopenias represent a prominent manifestation. He will discuss the pathophysiology of these disorders, and illustrate the results of targeted pharmacological interventions and of hematopoietic stem cell transplantation.
Dr. Charlotte Cunningham-Rundles will discuss the adult patient who has hypogammaglobulinemia, sometimes complicated by lymphadenopathy, splenomegaly and/or autoimmunity. The questions of how to evaluate these patients, what treatments might be applied, the genetic considerations, and when to consider the diagnosis of lymphoma, will be reviewed.
Dr. Sung-Yun Pai will discuss cellular treatment of monogenic disorders of immunity. She will discuss disorders for which allogeneic hematopoietic cell transplantation is standard, discuss challenges in transplantation of newly described disorders and particular patient populations, and touch on experimental emerging treatment with autologous gene therapy.
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