Human (51 sources):
Abnormal CD4:CD8 ratio,
Abnormal facial shape,
Abnormality of humoral immunity,
Absent cellular immunity,
Acute otitis media,
Agammaglobulinemia,
Autoimmune hemolytic anemia,
Autoimmune neutropenia,
Autoimmune thrombocytopenia,
Autoimmunity,
Biliary tract abnormality,
Cholangitis,
Chronic hepatitis due to cryptosporidium infection,
Chronic lymphocytic meningitis,
Chronic mucocutaneous candidiasis,
Colitis,
Cutaneous anergy,
Decreased circulating beta-2-microglobulin level,
Decreased circulating immunoglobulin concentration,
Decreased mitogen-induced T-cell proliferation,
Decreased total neutrophil count,
Decreased total T cell count,
Diarrhea,
Dysarthria,
Failure to thrive,
Gait ataxia,
Infectious encephalitis,
Malabsorption,
obsolete Decreased proportion of CD4-positive helper T cells,
Pancytopenia,
Panhypogammaglobulinemia,
Protracted diarrhea,
Recurrent bacterial infections,
Recurrent candida infections,
Recurrent fungal infections,
Recurrent herpes,
Recurrent infection of the gastrointestinal tract,
Recurrent lower respiratory tract infections,
Recurrent protozoan infections,
Recurrent respiratory infections,
Recurrent Staphylococcus aureus infections,
Recurrent upper respiratory tract infections,
Recurrent urinary tract infections,
Recurrent viral infections,
Reduced MHC II cell surface expression,
Rhinitis,
Sclerosing cholangitis,
Sinusitis,
Skin rash,
Villous atrophy,
Viral hepatitis
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These phenotypes are associated with this gene with a has phenotype relation via Monarch.