Autoimmunity, B lymphocytopenia, Chronic diarrhea, Combined immunodeficiency, Conjunctivitis, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD3-positive T cells, Desquamation of skin soon after birth, Diarrhea, Dry skin, Edema, Elevated circulating hepatic transaminase concentration, Eosinophilia, Erythroderma, Failure to thrive, Failure to thrive secondary to recurrent infections, Fever, Hepatomegaly, Hepatosplenomegaly, Hypoplasia of the thymus, Hypoproteinemia, Hypothyroidism, Immunodeficiency, Interstitial pneumonitis, Leukocytosis, Lymphadenitis, Lymphadenopathy, Lymphoma, Lymphopenia, Mastoiditis, Meningitis, Nephrotic syndrome, Neutropenia in presence of anti-neutropil antibodies, Otitis media, Pallor, Panhypogammaglobulinemia, Pneumonia, Protracted diarrhea, Pruritus, Purulent rhinitis, Recurrent bacterial infections, Recurrent enteroviral infections, Recurrent fungal infections, Recurrent opportunistic infections, Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurrent viral infections, Reduced antigen-specific T cell proliferation, Sepsis, Severe B lymphocytopenia, Severe combined immunodeficiency, Short toe, Skin rash, Splenomegaly, T lymphocytopenia, Thickened skin, Thrombocytopenia, Thyroiditis, obsolete Hypotrichosis

abnormal inguinal lymph node morphology, abnormal level of surface class II molecules, abnormal lymphopoiesis, abnormal neuron proliferation, abnormal response to infection, abnormal thymus epithelium morphology, absent T cells, absent immature B cells, absent late pro-B cells, absent lymphocyte, absent mature B cells, arrested B cell differentiation, arrested T cell differentiation, autoimmune response, behavior/neurological phenotype, decreased CD4-positive, alpha beta T cell number, decreased CD8-positive, naive alpha-beta T cell number, decreased double-positive T cell number, decreased gamma-delta T cell number, decreased mature B cell number, decreased susceptibility to induced colitis, decreased vascular permeability, dermatitis, ear inflammation, epidermal hyperplasia, immune system phenotype, impaired natural killer cell mediated cytotoxicity, increased CD8-positive, alpha-beta T cell number, increased NK cell number, increased alpha-beta T cell number, increased central memory CD8 positive, alpha-beta T cell number, increased double-negative T cell number, increased granulocyte number, increased immature B cell number, increased macrophage cell number, increased pro-B cell number, mixed cellular infiltration to dermis, nervous system phenotype, skeleton phenotype, small thymus, spontaneous chromosome breakage, thick skin