Research on Diseases

Immune DisordersBone marrow spicule from a child with Fanconi anemia showing marrow hypocellularity. Photo courtesy of Matthew W. Lensch, PhD, Children's Hospital Boston.

Several genetic blood diseases can prevent the body from producing a healthy immune system. Patients with severe combined immunodeficiency (SCID) can die from infections that healthy children easily fight off. The best treatment for these diseases is a bone marrow transplant.

Bone marrow contains hematopoietic stem cells, which differentiate into various blood cells, including the B cells and T cells needed for a healthy immune system.

Luigi Notarangelo, MD, is one of many people using iPS cells to probe the biology of disease.

At Boston Children’s Hospital, stem cell scientist George Q. Daley, MD, PhD, led his team in creating dozens of lines of induced pluripotent cells (iPS), including lines derived from patients with SCID. Studying these iPS cells in the lab will give scientists a chance to see how these patients’ respective diseases develop, and how the diseases can be treated. Currently, Daley and Luigi Notarangelo, MD, are collaborating to create additional iPS lines representing eight of the 14 forms of SCID.

Daley has already successfully combined gene and cell therapy to correct SCID in mice. In this instance, he used somatic cell nuclear transfer (in which the nucleus of an egg cell is replaced with the nucleus of an adult cell) of immunodeficient mice, followed by gene therapy to correct the disease mutation, to create healthy blood stem cells.



  • Immune disorders at Children’s

    To learn more about how Children’s Hospital Boston can treat the wide range of immune system disorders, such as SCID, please visit our Immunology Program.

  • Learn more about bone marrow stem cell transplants

    To learn about bone marrow stem cell transplantation at Children’s Hospital Boston, please visit our Stem Cell Transplantation Program.

  • George Q. Daley and Luigi Notarangelo’s work

    To read about George Q. Daley and Luigi Notarangelo’s work with immune deficiencies and stem cells, as well as other stem cell research, check out this feature article.

  • Sofia Trevino donates

    Sofia Treviño donates blood stem cells to her brother Andy to save him from NEMO. Click here to read about their story.

  • Running for Children’s

    Andy Treviño’s father, now a development
    specialist for the Children’s Hospital Trust, has run for years as part of the Children’s Marathon team. Click here to see a news clip from WBZ-TV 4.