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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.

LCK deficiency

Autosomal recessive disorder due to deficiency of lymphocyte-specific protein-tyrosine kinase (Lck or p56lck), one of the proteins activated upon engagement of the TCR/CD3 complex. Depending on the mutation, individuals may present within the first year of life with variable features.

Kabuki syndrome

Kabuki syndrome is a multisystem genetic disorder involving characteristic facial features, growth and developmental delay, and skeletal abnormalities.

IL21 pathway deficiency

Deficiencies of the cytokine, IL-21, and IL21 receptor has been described in children with very early onset inflammatory bowel disease, liver disease, and immunodeficiency with T cell and B cell defects.
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