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RHOH deficiency

RHOH deficiency is an autosomal recessive disorder caused by variants in the Ras homolog gene family member H (RHOH) gene leading to a defect of T cell function.

RelB deficiency

RelB deficiency has been found in a small number of individuals with poor T cell and B cell function in spite of normal lymphocyte numbers.

Purine nucleoside phosphorylase deficiency

Purine nucleotide phosphorylase (PNP) deficiency is a rare recessive disorder resulting in moderate to severe immunodeficiency, with reduced T cell numbers and risk of recurrent infections, as well as autoimmune disease.

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.
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