Combined immunodeficiency with intestinal atresias
Combined immunodeficiency with intestinal atresias (CID-IA) is a rare, severe disorder in which parts of the small intestine fail to develop properly.
CD8 deficiency
CD8 deficiency is an extremely rare autosomal recessive disorder due to homozygous mutation of CD8 gene.
CD70 deficiency
CD70 deficiency is a rare form of combined immunodeficiency with hypogammaglobulinemia and low CD8+ T cells. Individuals are particularly susceptible to chronic Epstein-Barr virus (EBV) and at high risk of EBV-associated lymphoma.
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.
Lung condition leads to PI diagnosis after two-year medical odyssey
August 21, 2023
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