Genetic Basis of Primary Immunodeficiencies

The purpose of this study is to evaluate patients with primary immunodeficiency disorders to
identify patients with mutations of the genes for the following proteins: Jak3, STAT1, STAT4,
interleukin-7, interleukin-7 receptor, interleukin-12 receptor subunits, and others. Patients
will undergo screening history, physical examination, and clinical laboratory evaluation at
referring institutions and tissue samples, or cell lines will be sent to the NIH. We will
establish cell lines if necessary, prepare DNA and RNA for molecular genetic analysis and
study cytokine signal transduction in patient cell lines.

- INCLUSION CRITERIA:

Samples from patients with known or suspected primary immunodeficiencies, including those
treated with stem cell transplants or gene correction therapy, and their families will be
accepted worldwide primarily from tertiary care centers that treat patients with such
immunodeficiencies.

Such patients will have documented evidence of either opportunistic infection, recurrent
infection, or unusually severe responses to infectious agents that cause mild illness in
unaffected individuals.

Either patient-derived B cell lines or primary blood samples will be accepted although in
some cases buccal swabs will also be accepted.

Blood samples may be obtained from unaffected children.

Infants with SCID or other primary immunodeficiency will not be seen; their physicians will
care them for and only clinical material will be sent on such patients.

Medically stable patients with mild to moderate immunodeficiency may be seen at the NIH.

EXCLUSION CRITERIA:

Inability to provide informed consent.

A presence of any medical condition that would, in the opinion of the investigators,
confuse the interpretation of the study.