Patient Jack Crick
2004 Born in May
2004 X-SCID is diagnosed in September. The search for a suitable bone marrow donor unsuccessful. Gene therapy using the patient's own blood stem cells is successful, even without chemotherapy.
2011 Patient has had no symptoms since.
Bobby Gaspar, Great Osmond Street Hospital, London
SCID stands for severe combined immunodeficiency;
A weakening of the immune system due to the absence or lack of lymphocyte function; mutations in genetic information (DNA) cause the disruption of T cell development. The patients' immune systems cannot cope with the pathogens in our normal environment and the affected children must therefore live in a sterile environment.
Collection of hematopoietic stem cells (CD34-positive); inserting the corrected gene into the test tube using a retroviral vector (taken from the mouse leukemia virus); stem cells are returned to the patient.
Advantages: Use of own cells instead of foreign cells; low risk of rejection or incompatibility; no suitable donor necessary.
The introduction of a new gene can lead to changes in cell properties or to degeneration (cancer). Cases are known where patients developed leukemia. The trigger seems to be the retroviral vector. Research is being carried out on the use of newer HIV-derived lentiviral vectors, for example, which have a much better safety profile.
Search terms: Bubble Boy, David Vetter, Jameson Golliday
Patient Timothy Ray Brown
1966 Born in Seattle, USA
1995 Diagnosis: HIV positive
until 2006 Treatment using highly active antiretroviral therapy (HAART): 600 mg Efavirenz,
200 mg Emtricitabine and 300 mg Tenofovir
2006 Diagnosis of acute myeloid leukemia (AML); chemotherapy treatment
2007 Treatment by allogeneic stem cell transplantation from a donor with a mutation in the CCR5 cell surface receptor. The mutation prevents the HI virus from penetrating the cells.
since 2007 HI virus no longer detectable using common procedures
2008 Leukemia identified again; second stem cell transplantation (same donor)
since 2008 HI virus undetectable using common procedures; leukemia treatment successful; neurological disorders diagnosed
Dr. Gero Hütter, Benjamin-Franklin-Klinikum Charité Berlin (bis 2009)
Bone marrow donor
HLA type: B57
Mutation: delta 32 on receptor CCR5
Transplantation of allogeneic stem cell transplantation of a donor with a mutation in the cell surface receptor CCR5. The mutation prevents the HI virus from entering the cells.
It is not clear whether this individual case is reproducible. The procedure is very expensive. In 2012, Steven Yukl (University of California, San Francisco) investigated nine billion patient blood cells using polymerase chain reaction (PCR). After several attempts he identifies fragments of the virus genome in the blood plasma. Douglas Richman (University of California, San Diego) also conducts blood tests and finds no residues. He considers contamination in the Yukl test possible; in addition, PCR is highly sensitive and error-prone.
Search terms: The Berlin Patient, Mississippi Baby