Assessment of Genetic and Molecular Defects in Primary Immunodeficiency Disorders and Wiskott-Aldrich Syndrome Proteins
Data Collection
Cytopenia+24
+ Blood Coagulation Disorders
+ Blood Protein Disorders
Summary
Study start date: July 1, 1995
Actual date on which the first participant was enrolled.PROTOCOL OUTLINE: Patients are studied systematically to determine the extent of their immune deficiency and to confirm a specific diagnosis. Patients with a known immunodeficiency syndrome are studied in detail to identify the gene mutation, to assess the effect of the mutation on the gene product, and to establish cell lines for further in vitro assessment of the genetic defect. The function of Wiskott-Aldrich syndrome proteins (WASP) in hematopoietic cells is studied. Family members of patients with X-linked disorders are studied to identify carrier females.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
PROTOCOL ENTRY CRITERIA: Primary immunodeficiency disease, e.g.: Leukocyte adhesion deficiency syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper IgM syndrome
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 1 location
University of Washington School of Medicine
Seattle, United StatesOpen University of Washington School of Medicine in Google Maps