Adaptive immunity |
B cell defects: |
Recurrent bacterial sinopulmonary infections or sepsis, particularly with polysaccharide encapsulated organisms (Streptococcus pneumoniae, Haemophilus influenzae type b) |
Unexplained bronchiectasis |
Chronic or recurrent gastroenteritis (often with Giardia or enterovirus) |
Failure to thrive |
Chronic enteroviral meningoencephalitis |
Arthritis |
T cell defects: |
Recurrent, severe, or unusual viral infections (VZV, CMV, HSV) |
Failure to thrive |
Chronic candidiasis |
Chronic diarrhea |
Lymphopenia during the neonatal period or in infancy |
Pneumocystis pneumonia |
Graft-versus-host disease (maculopapular and/or desquamating skin, abnormal liver function tests, and/or chronic diarrhea) |
Severe/neonatal eczematoid or seborrheic rashes |
Innate immunity |
Phagocytic defects: |
Poor wound healing |
Delayed separation of the umbilical cord |
Lymphadenitis or soft tissue abscesses |
Hepatosplenomegaly |
Chronic gingivitis and periodontal disease, oral mucosal ulcerations |
Infection with catalase positive bacteria and fungi |
Recurrent gastrointestinal or genitourinary tract obstruction |
Complement defects: |
Angioedema of face, hands, feet, gastrointestinal tract |
Autoimmune disease, lupus-like symptoms |
Pyogenic bacterial infections (eg, Neisseria meningitidis) |
History suggestive of autosomal dominant inheritance |
Other defects: |
Herpes simplex meningoencephalitis in infancy |
Papilloma virus infections of skin, including extensive warts |
Ectodermal dysplasia |
Pyogenic infections (eg, sepsis, meningitis) |
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