Version June 2024
| 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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