| Nijmegen breakage syndrome |
Microcephaly; microgenia; bird-like facies; prenatal growth deficiency; lymphoma; ionizing radiation sensitivity; chromosomal instability; recurrent respiratory tract infections; solid tumors; short stature; mastoiditis; sloping forehead; micrognathia; prominent midface; upslanting palpebral fissures; large, dysplastic ears; otitis media; choanal atresia or stenosis; long nose; cleft lip; cleft palate; sinusitis; bronchitis; bronchiectasis; recurrent pneumonia; diarrhea; gastrointestinal infections; anal stenosis; hydronephrosis; recurrent urinary tract infections; cafe-au-lait spots; depigmented spots; progressive vitiligo; normal IQ in infancy, then IQ drops with age; mental retardation by the age of 7 years; hyperactivity; primary ovarian failure; autoimmune hemolytic anemia; thrombocytopenia post hemolytic anemia; dysgammaglobulinemia; mild to moderately reduced T cell count; relatively increased number of natural killer cells; glioma; medulloblastoma; rhabdomyosarcoma; normal alpha fetoprotein; low T cell count; low B cell count; low CD4+ count; low CD4+/CD8+ ratio |
Other Well-defined Immunodeficiency Syndromes |
Autosomal recessive |