Anti-thyroid peroxidase antibody positivity, Aplasia/Hypoplasia of the eyebrow, Aplasia of the thymus, Asthma, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, B-cell lymphoma, B lymphocytopenia, Chronic diarrhea, Decreased circulating IgA concentration, Decreased circulating IgG2 concentration, Decreased circulating total IgM, Desquamation of skin soon after birth, Diarrhea, Diffuse mesangial sclerosis, Dry skin, Edema, Eosinophilia, Erythroderma, Failure to thrive, Fever, Growth arrest lines, Hepatomegaly, Hypoplasia of the thymus, Hypoproteinemia, Hypothyroidism, Increased circulating IgE concentration, Inflammatory abnormality of the skin, Lack of T cell function, Leukocytosis, Lymphadenopathy, Lymphoma, Lymphopenia, Nephrotic syndrome, obsolete Hypotrichosis, Platyspondyly, Pneumonia, Pruritus, Pulmonic regurgitation, Recurrent bacterial infections, Recurrent fungal infections, Recurrent opportunistic infections, Recurrent otitis media, Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Reduced red cell adenosine deaminase level, Sepsis, Severe B lymphocytopenia, Severe combined immunodeficiency, Short toe, Sinusitis, Splenomegaly, Thickened skin, Thrombocytopenia, Thyroiditis, T lymphocytopenia

abnormal pulmonary alveolus morphology, abnormal pulmonary gas exchange, abnormal renal glomerulus morphology, abnormal renal tubule morphology, abnormal spleen red pulp morphology, abnormal thymus corticomedullary boundary morphology, abnormal vascular smooth muscle physiology, cardiovascular system phenotype, decreased double-positive T cell number, decreased hepatocyte number, decreased lung compliance, decreased placenta weight, embryo phenotype, increased airway resistance, increased dendritic cell number, increased double-negative T cell number, increased granulocyte number, increased hepatocyte karyomegaly, increased lung elastance, increased macrophage cell number, increased right ventricle systolic pressure, maternal effect, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, postnatal lethality, complete penetrance, renal/urinary system phenotype, small liver, small spleen, small thymus, vascular smooth muscle hypertrophy