ZAP-70 deficiency is a rare autosomal recessive combined immunodeficiency. Peripheral T cells from individuals with ZAP-70 deficiency demonstrate defective T cell signaling and have an autoreactive phenotype. Indeed, several individuals have presented with autoimmune disorders.

X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) is seen in boys and is characterized by low CD4 T cells, chronic Epstein-Barr virus (EBV) infections, and lymphoproliferative disorders related to the EBV.

Tricho-hepato-enteric syndrome (THES) is a rare, recessive disorder characterized by chronic diarrhea with poor growth, liver disease, hair and facial abnormalities, and immunodeficiency with impaired antibody function and lymphopenia.

TCRa deficiency causes susceptibility to recurrent respiratory tract infections, candidiasis, gastroenteritis, and herpesvirus infections, as well as autoimmune symptoms.

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.

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, an autosomal recessive disorder, is caused by a variant in a gene responsible for chromatin remodeling (SMARCAL1).