Diagnostic Center for Heritable Immunodeficiencies

Diagnostic Center for Heritable Immunodeficiencies

The Diagnostic Center for Heritable Immunodeficiencies (DCHI) at Cincinnati Children’s is the largest and most specialized center in North America for the diagnosis of rare primary immunodeficiencies, bone marrow failure syndromes and other disorders of the immune system.   The DCHI has been recognized as a center of excellence by the Federation of Clinical Immunology Societies and the Jeffrey Modell Foundation.  

We are introducing five new next-generation sequencing (NGS) panels for the following disorders:

• Bone marrow failure syndromes, including Diamond-Blackfan anemia, Shwachman-Diamond syndrome and congenital amegakaryocytic thrombocytopenia
• Chromosome breakages disorders, including ataxia-telangiectasia,  Bloom syndrome and Nijmegen / Nijmegen-like disorders
• Dyskeratosis congenita
• Fanconi anemia
• Severe combined immunodeficiency (SCID)

Other disorders for which the DCHI offers rapid screening and genetic diagnostic testing include: hemophagocytic lymphohistiocytosis (HLH), Wiskott-Aldrich syndrome (WAS),  X-linked lymphoproliferative disease (XLP), autoimmune lymphoproliferative syndrome (ALPS) and X-linked immune dysregulation and  polyendocrinopathy, enteropathy syndrome (IPEX).