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I am a pediatric hematologist-oncologist with special interest in the niche of diseases that intersect immune dysfunction, primary immunodeficiency and bone marrow failure. My clinical practice focuses on pediatric patients requiring a hematopoietic stem cell transplantation, patients with DiGeorge Syndrome and patients with genetic immune diseases presenting with autoimmunity. As a physician-scientist, I strive to advance our insights into the mechanisms leading to immunodeficiency, autoimmunity and tolerance on a molecular level and to translate our research into novel targeted therapies patients.My work is a natural extension of my clinical training in pediatric hematology-oncology combined with my scientific background in immunology and microbiology. After completing my clinical training at Boston Children’s Hospital/Dana-Farber Cancer Institute, I joined the laboratory of Luigi D. Notarangelo in the division of immunology, Boston Children’s Hospital/Harvard Stem Cell Institute, where I have acquired skills in the field of reprogramming, tissue engineering and gene correction. In my laboratory, we now use iPSC-based disease models to study how defects in mitochondrial metabolism and oxidative stress affect hematopoietic stem and progenitor cell development and cell death with the goal of identifying therapeutic targets. A separate focus of my laboratory is devoted to understanding the thymic developmental defects in DiGeorge syndrome.
Patients Treated for SCID (1968-Present)
Individuals with a past diagnosis of severe combined immune deficiency (including many cases
of "leaky SCID", Omenn syndrome, and reticular dysgenesis) who have undergone blood and
marrow transplant, gene therapy, or enzyme replacement in the past may be eligible for this
study. The purpose of study is to look backwards at what has already been done in the. Over
800 patients with SCID are expected to be enrolled, making this one of the largest studies
ever to describe outcomes for patients with SCID treated at many different hospitals around
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Patients Treated for Wiskott-Aldrich Syndrome (WAS) Since 1990
Wiskott - Aldrich syndrome (WAS) is a rare serious medical condition that causes problems
both with the immune system and with easy bruising and bleeding. The immune abnormalities
cause patients with WAS to be very susceptible to infections. Depending on the specific type
of primary immune deficiency diseases, there are effective treatments, including antibiotics,
cellular therapy and gene therapy, but studies of large numbers of patients are needed to
determine the full range of causes, natural history, or the best methods of treatment for
long term success.
This multicenter study combines retrospective, prospective and cross-sectional analyses of
the transplant experiences for patients with WAS who have already received HCT since 1990, or
who will undergo Hematopoietic cell transplant (HCT) during the study period. The
retrospective and prospective portions of the study will address the impact of a number of
pre and post-transplant factors on post-transplant disease correction and ultimate benefit
from HCT and the cross-sectional portion of the study will assess the benefit of HCT 2 years
post-HCT in consenting surviving patients.
Stanford is currently not accepting patients for this trial.
For more information, please contact Matthew Porteus, MD, 650-725-6520.
Patients Treated for Chronic Granulomatous Disease (CGD) Since 1995
Chronic granulomatous disease (CGD) is an inherited immune system abnormality in which bone
marrow transplantation (BMT) has been shown to be curative. However the risks of
transplantation are high and not all patients with CGD may need to undergo this high risk
procedure. This study will determine the long term medical condition and daily functioning of
participants with CGD after a transplant and if possible, compare these results to
participants who do not undergo a transplant.
Natural History Study of SCID Disorders
This study is a prospective evaluation of children with Severe Combined Immune Deficiency
(SCID) who are treated under a variety of protocols used by participating institutions. In
order to determine the patient, recipient and transplant-related variables that are most
important in determining outcome, study investigators will uniformly collect pre-, post- and
peri-transplant (or other treatment) information on all children enrolled into this study.
Children will be divided into three strata:
- Stratum A: Typical SCID with virtual absence of autologous T cells and poor T cell
- Stratum B: Atypical SCID (leaky SCID, Omenn syndrome and reticular dysgenesis with
limited T cell diversity or number and reduced function), and
- Stratum C: ADA deficient SCID and XSCID patients receiving alternative therapy including
PEG-ADA ERT or gene therapy.
Each Group/Cohort Stratum will be analyzed separately.