Expertise in Treating Rare Disorders

The Immune Deficiency and Histiocytosis Program at Cincinnati Children’s treats patients with more than 200 kinds of immune deficiencies and histiocytic disorders. Our physicians have developed diagnostic and treatment approaches that improve patient outcomes and survival, and many of our advances have become international standards of care.

The program’s specialists manage each stage of patient care, from immunologic diagnostic testing to curative strategies such as hematopoietic cell transplantation. We provide expert management of hospitalized patients with acutely life-threatening illnesses. Outpatient care is provided in our brand-new clinic.

Conditions We Treat

The following diseases are rare, but our specialists have extensive experience in their diagnosis and management. If you are the parent of a child who suffers from unusually frequent or severe infections and you are concerned about a primary immune deficiency, rest assured that our physicians will perform a thorough evaluation of your child’s immune system to determine if your child has a primary immune deficiency and if treatment is needed.

  • HLH (hemophagocytic lymphohistiocytosis) | Learn more about this disorder. | Visit the HLH Center of Excellence.
  • XLP1 and XLP2 / XIAP deficiency (X-linked lymphoproliferative syndrome type 1 and type 2) | Learn more about this disease. | Visit the HLH Center of Excellence.
  • LCH (Langerhans cell histiocytosis) | Learn more about this disease. | Visit the Langerhans Cell Histiocytosis Center.
  • SCID (severe combined immunodeficiency)
  • CID (combined immune deficiency)
  • WAS (Wiskott-Aldrich syndrome)
  • Hyper IgM syndromes
  • CVID (common variable immunodeficiency)
  • 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 mutation
  • STAT1 mutation
  • STAT3 mutation
  • Hyper IgE syndromes
  • 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
  • And many other primary immunodeficiencies