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Molecular and Clinical Studies of Primary Immunodeficiency Diseases

Open (Enrolling)
Immunologic Deficiency Syndrome

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Trial Information

Molecular and Clinical Studies of Primary Immunodeficiency Diseases

The purpose of this protocol is to study patients with primary immunodeficiency disorders
with the goal of contributing to both the clinical and molecular understanding of this
heterogeneous group of inherited diseases. Clinical issues to be addressed will include
disease manifestations and evolution, as well prevention and management of medical problems.
Patients with diseases of known molecular basis (including Wiskott-Aldrich syndrome, ADA
deficiency, JAK3 deficiency and other syndromes) will be genotyped in order to investigate
phenotype-genotype correlation. Patients with disease of unknown or incomplete genetic
characterization will be studied with hopes of contributing to the identification of
specific genes responsible for disease. Studies of fresh cells, cell lines and tissue
samples will be performed to help characterize the patient's syndrome as well as to test the
efficacy of genetic correction when available.

The outcome we seek is to improve our knowledge of the molecular basis, clinical
presentation and evolution of primary immunodeficiency diseases and to collaborate to
maintain or improve the health status of our patients. It is anticipated that additional
protocols will be generated from preliminary data gathered in this umbrella study.

Inclusion Criteria


Patients with a clinical history or signs and symptoms suggestive of a primary immune
deficiency syndrome and their family members are eligible for inclusion in this study and
they may be referred by their physician or self-referred. If possible, a local
physician/clinical immunologist will be identified for self-referred patients to serve as
primary reference. If screening of the patients, either by phone interview or review of
their medical records indicates that the patient may have a primary immunodeficiency
syndrome and is HIV-negative, the patient will be invited to come to the NIH and sign an
informed consent. If family history is positive for immunodeficiency, the patients or
family members may be asked to invite other relatives to contact the PI to participate in
the study.


Inability of the subject or the subject's parent/guardian to provide informed consent.

Patients infected with the Human Immunodeficiency Virus before enrollment.

Type of Study:


Study Design:


Principal Investigator

Fabio Candotti, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Human Genome Research Institute (NHGRI)


United States: Federal Government

Study ID:




Start Date:

September 2000

Completion Date:

Related Keywords:

  • Immunologic Deficiency Syndrome
  • X-Linked Agammagloblinemia
  • Wiskott-Aldrich Syndrome
  • Jak-3 SCID
  • X-Linked SCID
  • X-Linked Hyper-IgM Syndrome
  • Primary Immunodeficiencies
  • CVID
  • Immunologic Deficiency Syndromes



National Institutes of Health Clinical Center, 9000 Rockville Pike Bethesda, Maryland  20892