Individuals with this condition can present with severe T cell defects that may mimic severe combined immunodeficiency (SCID) at birth. Additionally, they present with significant bone deformities, such as early fused cranial bones (craniosynostosis) with a small cervical canal, short stature, and abnormally shaped digits.

DOCK2 deficiency is an autosomal recessive disorder associated with early-onset invasive bacterial and viral infections, lymphopenia, and defective T, B, and NK cell function.

Coronin 1A deficiency is associated with a very low number of T cells with impaired function, similar to severe combined immunodeficiency (SCID).

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 is an extremely rare autosomal recessive disorder due to homozygous mutation of CD8 gene.

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.

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

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 is a type of combined immunodeficiency (CID) caused by a DNA repair defect and primarily described in the Ashkenazi Jewish population.

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.