| Adenosine deaminase deficiency |
Failure to thrive; Sinusitis; Asthma; Pneumonia; Hepatomegaly; Splenomegaly; Diarrhea; Diffuse mesangial sclerosis; Platyspondyly; Pelvic dysplasia; Autoimmune hemolytic anemia; Idiopathic thrombocytopenia; Eosinophilia; Frequent fungal, viral, and opportunistic infections; Lymphopenia; Absent B cells; Absent T cells; Absent or reduced CD3+ cells; Absent or small dysplastic thymus; Absent specific antibody response; B-cell lymphoma; Reduced erythrocyte adenosine deaminase activity; Increased IgE levels; Low or absent IgA levels; Low or absent IgM levels; Absent IgG2 subclass; CD4+/CD8+ ratio often reversed; Elevated serum levels of adenosine; Elevated serum levels of 2-prime deoxyadenosine; Recurrent bacterial, viral, and fungal infections; decreased natural killer cells; costochondral junction flaring; hearing impairment |
Combined T-cell and B-cell immunodeficiencies |
Autosomal recessive; somatic mosaicism |