Expertise in Treating Rare Disorders

Many of our patients come to us searching for answers. It’s our goal to find a diagnosis and treatment that helps your child live a full, healthy life.

Our experienced team treats children and young adults with all types of immune deficiency and dysregulation conditions. Because of our unique testing capabilities, we’re able to diagnose and treat some of the rarest immune disorders. We also specialize in treating and preventing infections and treating complications or side effects from these diseases.

Conditions We Treat Include

• Hemophagocytic Lymphohistiocytosis (HLH) | Visit the HLH Center of Excellence.
• XLP1 (X-linked lymphoproliferative syndrome type 1) | Visit the HLH Center of Excellence.
• XLP2 / XIAP deficiency (X-linked lymphoproliferative syndrome type 2) | Visit the HLH Center of Excellence.
• SCID (severe combined immunodeficiency)
• CVID (common variable immunodeficiency)
• CID (combined immune deficiency)
• WAS (Wiskott-Aldrich syndrome)
• Hyper IgM syndromes
• XLA (X-linked agammaglobulinemia) and other forms of agammaglobulinemia
• Specific antibody deficiencies
• CGD (chronic granulomatous disease)
• LAD (leukocyte adhesion deficiency)
• ALPS (autoimmune lymphoproliferative syndrome)
• IPEX (immune dysregulation, polyendocrinopathy, enteritis, X-linked)
• NEMO (X-linked NFkB essential modifier deficiency)
• Diseases associated with susceptibility to mycobacteria
• ADA2 deficiency
• GATA2 deficiency
• LRBA deficiency
• CTLA4 haploinsufficiency
• STAT1 mutation
• STAT3 mutation
• DiGeorge syndrome and CHARGE syndrome (management of immunologic abnormalities)
• Periodic fever syndromes, autoinflammatory diseases and type 1 interferonopathies (often in collaboration with our rheumatology colleagues)
• Complement deficiencies
• Other primary immune deficiencies
• Other immune regulatory disorders