CARD11 deficiency or gain of function
Variants in CARD11 are associated with a spectrum of primary immunodeficiencies. Complete absence of CARD11, which is a rare autosomal recessive condition, causes hypogammaglobulinemia and T cell dysfunction in spite of normal T cell numbers.
Bloom syndrome
Bloom syndrome is a type of combined immunodeficiency (CID) caused by a DNA repair defect and primarily described in the Ashkenazi Jewish population.
BCL11A deficiency
BCL11A deficiency is a rare combined immunodeficiency (CID) that causes a profound lack of T cells and risk of invasive infections akin to severe combined immunodeficiency (SCID). Other features include neonatal teeth, umbilical hernia, and skeletal and brain abnormalities.
BCL10 deficiency
Deficiency of BCL10 is a rare combined immunodeficiency (CID) associated with severe recurrent infections and autoimmunity.
Lung condition leads to PI diagnosis after two-year medical odyssey
August 21, 2023
Read article
Fireside chat with Emily V. Gordon
August 17, 2023
Listen to podcast
Bare lymphocyte syndrome type 1 and 2
Bare lymphocyte syndrome type 1 and 2 are forms of combined immune deficiencies (CIDs) characterized by a shortage of major histocompatibility complex (MHC) proteins.
Cartilage-hair hypoplasia
Cartilage-hair hypoplasia (CHH) is a skeletal dysplasia sometimes also referred to as immunodeficiency with short-limbed dwarfism. It is caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene.
Cincinnati Children's
Cincinnati Children’s is the most experienced hospital in the nation in treating hemophagocytic lymphohistiocytosis (HLH). Their HLH team includes researchers and physicians who have studied the disease extensively. They care for between 10 and 20 children with HLH a year, a large number considering how rare HLH is.
