Disease name |
Characteristic / Associated features |
Category |
inheritance type |
Combined immunodeficiency, X-linked |
Failure to thrive; oral trush; Absent tonsils; persistent infections; lack of delayed hyersensitivity; lymphocytopenia; thymus atrophy; Absent T lymphocytes; recurrent sinusitis; paucity of lymphoid tissues; otitis media; bronchitis; pneumonia; severe varicella; chronic papillomavirus infections; Hepatomegaly; Chronic diarrhea; Candidal diaper rash; Erythematous skin rashes; recurrent bacterial meningitis; Frequent bacterial, fungal and viral infections; Specific antibody production very poor; Decreased numbers of natural killer cells (NK); decreased natural killer cell mediated cytotoxicity; Abnormality of the thymus; Lymphoid depletion; Lymph nodes are small and poorly developed; Low absolute lymphocyte count; Agammaglobulinemia; normal or increased circulating B cells |
Combined T-cell and B-cell immunodeficiencies |
X-linked |
X-linked SCID; Combined immunodeficiency, X-linked |
Sinusitis; Otitis media; Bronchitis; Pneumonia; Paucity of lymphoid tissue; Normal number of natural killer cells; Decreased number of CD4+ T cells; Decreased number of CD8+ T cells; Diminished proliferative response of T cells to allogenic cells, mitogens, and antigens; Reduced production of interleukin 2 by mitogen stimulated blood lymphocytes; Decreased IgG |
Combined T-cell and B-cell immunodeficiencies |
X-linked |