Kabuki syndrome
Kabuki syndrome is a multisystem genetic disorder involving characteristic facial features, growth and developmental delay, and skeletal abnormalities.
-
Understanding primary immunodeficiency (PI)
Understanding PI
The more you understand about primary immunodeficiency (PI), the better you can live with the disease or support others in your life with PI. Learn more about PI, including the various diagnoses and treatment options.
-
Living with PI
Living with PI
Living with primary immunodeficiency (PI) can be challenging, but you’re not alone—many people with PI lead full and active lives. With the right support and resources, you can, too.
-
Get involved
Get involved
Be a hero for those with PI. Change lives by promoting primary immunodeficiency (PI) awareness and taking action in your community through advocacy, donating, volunteering, or fundraising.
-
Advancing research and clinical care
Advancing research and clinical care
Whether you’re a clinician, researcher, or an individual with primary immunodeficiency (PI), IDF has resources to help you advance the field. Get details on surveys, grants, and clinical trials.
Find Kabuki syndrome clinical trials
See if you qualify to participate in clinical trials evaluating new treatments and/or diagnostics for Kabuki syndrome.
Learn more about combined immune deficiencies.
Diagnosis
This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.
Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition.
Copyright ©2019 by Immune Deficiency Foundation, USA
Sign up for updates from IDF
Receive news and helpful resources to your cell phone or inbox. You can change or cancel your subscription at any time.
