Disease name |
Characteristic / Associated features |
Category |
inheritance type |
X-linked agammaglobulinemia |
Otitis media; Hearing loss; Conjunctivitis; Sinusitis; Rudimentary adenoids; Rudimentary tonsils; Pneumonia; Hypoxemia and cor pulmonale; Enteroviral hepatitis; Diarrhea; Epididymitis; Prostatitis; Urinary tract infections; Septic arthritis; Pyoderma; Enteroviral dermatomyositis syndrome; Meningitis; Encephalitis; Delayed speech acquisition; recurrent bacterial infections; severe enteroviral infections; small lymph nodes; absent B-lymphocytes in all organs; Normal numbers of pro-B cells; absent plasma cells in all organs; increased incidence of rectosigmoid cancer; absent or severely reduced levels of serum immunoglobulins; susceptibility to infections start in the first year of life |
Predominantly antibody deficiencies |
X-linked recessive |
X-linked agammaglobulinemia |
Short stature; hearing loss; enteroviral hepatitis; sinusitis recurrent otitis media; diarrhea; epididymitis; rhinitis; prostatitis; conjunctivitis; delayed skeletal maturation; panhypogammaglobulinemia; bronchiectasis; recurrent sinopulmonary infections; pneumonia; fever; septic arthritis; inflammatory myofibroblastic tumor; rash; Campylobacter jejuni infection; absent B cells; absent or severely reduced levels of serum immunoglobulins; delayed puberty; deficient growth hormone response to insulin, arginine, or levodopa; recurrent bacterial infections; severe enteroviral infections; small lymph nodes; absent B-lymphocytes in all organs; absent plasma cells in all organs; increased incidence of rectosigmoid cancer; susceptibility to infections start in the first year of life |
Predominantly antibody deficiencies |
X-linked recessive |