Investigation into the Immunologic and Molecular Basis of Primary Immune Deficiencies and Immune Regulatory Disorders

Why are we doing this research?

The purpose of this research study is to help the doctors learn more about disorders of the immune system. The research doctors of the Cancer and Blood Diseases Institute at Cincinnati Children's Hospital Medical Center would like to collect blood / tissue samples from patients with a diagnosis or suspected diagnosis of an immune disorder, control subjects and healthy family members. These samples may then be used for ongoing study of the human immune system. Research using these samples may help the doctors learn more about immunologic diseases and develop better treatments for these diseases. The research doctors and team will also need to look at and store your medical information in a secure database to help them do their studies. The blood or tissue that is collected and stored may also be used to help identify the genetic source of the disease. If you are participating as a control subject or a healthy family member, you will be helping further the research aimed at treating immune disorders.

Who can participate?

You are being asked to take part in this research study because you have been diagnosed with a disorder of the immune system or because you are suspected of having such a disorder. You may also have been asked to participate because you are a family member of someone that has been diagnosed with an immune system disorder (family member), or as a healthy independent volunteer.


  • Immune Deficiency and Histiocytosis
  • Hematology - Fanconi Anemia
  • Hematology - Hemophilia
  • Hematology - Thrombosis
  • Hematology - Sickle Cell and Hemoglobin


  • Female
  • Male

What will happen in the study?

If you take part in this study, you will have the following tests and procedures; as determined by your doctor. In general, your doctor may:

  • ask you to provide one or more types of biological specimen(s)
  • request permission to maintain your personal and medical information linked to the biologic specimen in a secure database
  • establish an immortalized cell line using part of your biological specimen
  • request your permission to conduct genetic studies
  • allow samples obtained under this consent to be sent to institutions outside of Cincinnati Children's to investigators with IRB approved research protocols. Any samples and / or data sent to a researcher outside of Cincinnati Children's will be de-identified.

What are the good things that can happen from this research?

If you agree to take part in this research study, there will not be a direct medical benefit for you. The information learned from this research study may benefit other patients with an immune disorder in the future.

Will I get all the facts about the study?

If you are interested in participating in this study, you will meet with a study coordinator who will explain all of the details of the study. The study coordinator will review the consent form and will be sure that all questions are answered. The consent form describes all the procedures, risks, benefits and who to contact with questions or concerns. Study procedures will not begin until the consent has been signed by the patient (if over 18 years) or the parent / guardian of the patient.

What are the bad things that can happen from this research?

A detailed list of possible risks will be provided to those patients interested in knowing more about the study.



Contact Us.Tashia L. Harris, MS
Clinical Research Coordinator IV
Cancer and Blood Diseases Institute
Cincinnati Children's Hospital Medical Center
MLC 11027, 3333 Burnet Avenue
Cincinnati, Ohio 45229-3039
Phone: 513-803-4541