Treatment – Primary Immunodeficiency

00:01 So how does one treat a patient with primary immunodeficiency? Well it rather depends on the exact nature of the immunodeficiency.

00:08 But early intervention with antibiotics and antifungals is very important.

00:12 Long term low dose prophylactic antimicrobials can be used to prevent re-infection.

00:19 Cytokine therapy with granulocyte-colony stimulating factor will enable one to boost neutrophil numbers in patients with neutropenia, with low levels of neutrophils you can stimulate the bone marrow to produce more neutrophils using G-CSF and gamma interferon to stimulate phagocytes in patients with chronic granulomatous disease.

00:41 IL-2 can be used to stimulate lymphocytes in patients with common variable immunodeficiency.

00:50 Intravenous or subcutaneous pooled human immunoglobulins can be utilized.

00:56 Intramuscular bovine ADA (adenosine deaminase) conjugated to polyethylene glycol to increase its half life can be used in patients who have SCID due to mutations in the ADA gene.

01:11 And bone marrow, cord blood or adult peripheral blood hematopoietic stem cell transplantation can be used.

01:20 And then finally gene therapy, and this is very much I think the future of treatment of primary immunodeficiencies. There is a gene defect, let’s get in there and actually replace the defective gene with a normal functioning gene. And although it’s relatively early days in this type of therapy, there have been quite a number of successful trials.

01:42 And this is now becoming a more routine procedure in a number of places worldwide.

01:50 The ultimate therapy for primary immunodeficiency is to replace the defective gene with a normal functioning copy of the gene.

01:59 Viral vectors are used to insert the functional gene into patient’s CD34+ hematopoietic stem cells.

02:08 This has been used to treat patients with SCID, using a normal copy of the ADA gene or the γC gene.

02:17 It’s also been used in Wiskott-Aldrich syndrome, to replace the defective gene encoding the Wiskott-Aldrich syndrome protein.

02:27 And replacement of defective gp91phox in chronic granulomatous disease has also been employed.