TFR1 deficiency
Deficiency of transferrin receptor 1 (TFR1) is a rare, recessive immunodeficiency that causes hypogammaglobulinemia, defective T cell function, intermittent neutropenia and thrombocytopenia, and mild anemia.
STK4 deficiency
The clinical phenotype for STK4 deficiency includes persistent viral infections and bacterial infections. Other reported features include fungal infections, mild eczema, autoimmune cytopenias, and lymphopenia.
Schimke’s immuno-osseous dysplasia
Schimke’s immuno-osseous dysplasia, an autosomal recessive disorder, is caused by a variant in a gene responsible for chromatin remodeling (SMARCAL1).
RIDDLE syndrome
RIDDLE is short for radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties. It is an autosomal recessive disorder, in which individuals have difficulty repairing DNA damage sustained by the cells.
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.
