Chronic mucocutaneous candidiasis, Congestive heart failure, Delayed puberty, Delayed skeletal maturation, Diabetes mellitus, Diarrhea, Dilatation of the cerebral artery, Eczematoid dermatitis, Enterocolitis, Esophageal carcinoma, Functional abnormality of the bladder, Generalized osteoporosis, Growth delay, Hepatitis, Hepatosplenomegaly, Herpes simplex encephalitis, Hypothyroidism, Immune dysregulation, Immunodeficiency, Infectious encephalitis, Inflammatory abnormality of the skin, Lymphopenia, Medial calcification of large arteries, Neutropenia in presence of anti-neutropil antibodies, Oropharyngeal squamous cell carcinoma, Osteopenia, Patent foramen ovale, Primary hypothyroidism, Pulmonary arterial hypertension, Recurrent Aspergillus infections, Recurrent herpes, Recurrent infections, Recurrent mycobacterial infections, Recurrent respiratory infections, Recurrent upper respiratory tract infections, Recurrent viral infections, Renal artery stenosis, Renovascular hypertension, Short stature, Thrombocytopenia, Thyroiditis, Type I diabetes mellitus, Villous atrophy

abnormal macrophage physiology, abnormal mean corpuscular volume, abnormal nitric oxide homeostasis, abnormal osteoblast differentiation, abnormal osteoclast differentiation, abnormal redox activity, abnormal response to infection, abnormal retina inner nuclear layer morphology, bronchiolitis, decreased B-1 B cell number, decreased CD8-positive, naive alpha-beta T cell number, decreased NK cell degranulation, decreased body size, decreased circulating interferon-gamma level, decreased cytotoxic T cell cytolysis, decreased hepatocyte apoptosis, decreased interferon-gamma secretion, decreased interleukin-1 beta secretion, decreased level of surface class I molecules, decreased mean corpuscular volume, decreased sensitivity to induced cell death, decreased single-positive T cell number, decreased susceptibility to endotoxin shock, decreased susceptibility to neuronal excitotoxicity, enlarged lymph nodes, immune system phenotype, impaired natural killer cell mediated cytotoxicity, impaired righting response, increased CD4-positive, alpha beta T cell number, increased NK T cell number, increased bone mass, increased cardiomyocyte apoptosis, increased circulating interferon-gamma level, increased circulating interleukin-12b level, increased compact bone thickness, increased compact bone volume, increased effector memory CD4-positive, alpha-beta T cell number, increased effector memory CD8-positive, alpha-beta T cell number, increased macrophage nitric oxide production, increased mammary adenocarcinoma incidence, increased myocardial infarct size, increased neutrophil cell number, increased osteoclast cell number, increased susceptibility to Coronaviridae infection, increased susceptibility to Coronaviridae infection induced morbidity/mortality, increased susceptibility to Herpesvirales infection, increased susceptibility to Riboviria infection, increased susceptibility to Togaviridae infection, increased susceptibility to bacterial infection induced morbidity/mortality, increased trabecular bone volume, integument phenotype, lethality at weaning, complete penetrance, multifocal hepatic necrosis, no abnormal phenotype detected, pleuritis, pulmonary necrosis, tumor regression, vision/eye phenotype