PolE/PolE2 deficiency
PolE/PolE2 deficiency is inherited in an autosomal recessive manner. Affected individuals have a high predisposition for infections and decreased numbers of both T and B cells.
Partial RAG1/2 deficiency
"Leaky" variants in RAG1 or RAG2 with residual protein function and T cell production can have a variable presentation, including Omenn syndrome, granulomatous disease, and/or autoimmunity.
OX40 deficiency
OX40 deficiency is a rare immunodeficiency. CD4+ T cells appear to be dysfunctional in this disorder, whereas antibody production is still intact.
NIK deficiency
NIK deficiency is a rare immunodeficiency resulting in impaired function of T cells, B cells, and natural killer (NK) cells. Affected individuals are susceptible to a wide range of infections.
Nijmegen breakage syndrome
Variants in the gene that codes for a protein called nibrin cause Nijmegen breakage syndrome (NBS). Affected individuals are highly sensitive to the effects of sunlight and radiation, or any substance that can cause breaks in DNA.
Moesin deficiency
Moesin deficiency is an X-linked immunodeficiency associated with lymphopenia, neutropenia, and recurrent bacterial infections.
MALT1 deficiency
MALT1 deficiency is a combined immunodeficiency that can cause severe eczema, recurrent bacterial and viral infections, inflammatory gastrointestinal disease, long bone fractures, and severe periodontal disease.
Ligase 1 deficiency
Individuals with ligase 1 deficiency have high sensitivity to sunlight, stunted growth, developmental delay, and a high predisposition for cancer.
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LICS syndrome
Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) causes severe, early lung disease.
