Successful immune reconstitution by means of hematopoietic stem cell transplantation in a Colombian patient with chronic granulomatous disease.
BACKGROUND
Chronic granulomatous disease is a primary immunodeficiency that results from mutations in proteins of the NADPH oxidase system that affect the microbicidal activity of phagocytes. Immune reconstitution by hematopoietic stem cell transplantation is currently the only curative therapy for this disease.


OBJECTIVE
To describe the clinical and molecular characterization of a patient with X-linked chronic granulomatous disease and the successful immune reconstitution by means of a hematopoietic stem cell transplantation.


METHODS
The respiratory burst was measured by flow cytometry using the dihydrorodamine 123 (DHR) oxidation test in neutrophils of peripheral blood. Mutational analysis of CYBB was performed by PCR amplification in complementary DNA, as well as sequencing and comparative genomic hybridization in genomic DNA. HLA-identical stem cells from the patient's younger brother were used for the transplantation and reduced intensity pre-transplantation conditioning was administered. Post-transplantation immune reconstitution was evaluated periodically by serial complete blood counts and DHR 123 in peripheral blood neutrophils.


RESULTS
The diagnosis of X-linked chronic granulomatous disease resulted from a hemizygous deletion affecting Xp21.1 that included the entire CYBB. Post-transplantation engraftment was documented in platelets and peripheral blood neutrophils at days 10 and 11, respectively. Total hematological reconstitution was achieved by day 30 post-transplantation and no complications or infections have been observed in the three years since the transplantation.


CONCLUSIONS
Hemopoietic stem cell transplantation allows for total reconstitution of the immune function related to microbicidal activity of phagocytic cells from patients with X-linked chronic granulomatous disease.
Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia. yermis248@gmail.com.
Yermis Carolina
YC
Rocha
Juan Álvaro
JÁ
López
Julio Cesar
JC
Orrego
Yadira
Y
Coll
Amado
A
Karduss
Sergio
S
Rosenzweig
José Luis
JL
Franco
D003105:Colombia; D055028:Comparative Genomic Hybridization / Q000379:methods*; D006105:Granulomatous Disease, Chronic / Q000235:genetics / Q000628:therapy*; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods; D006801:Humans; D000074243:Immune Reconstitution / Q000235:genetics / Q000276:immunology* / Q000502:physiology; D019255:NADPH Oxidases / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D009504:Neutrophils / Q000166:cytology* / Q000502:physiology*; D016897:Respiratory Burst / Q000235:genetics / Q000502:physiology*
D019255:NADPH Oxidases
Granulomatous disease, chronic; NADPH oxidase; hematopoietic stem cell transplantation; neutrophils; reactive oxygen species; transplantation conditioning