CD3G deficiency
Individuals with CD3 gamma deficiency have clinical phenotypes ranging from immune deficiency to immune dysregulation with autoimmunity.
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.
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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.
