Characteristic Clinical Findings in Some Primary Immunodeficiency Disorders
Age Group | Findings* | Disorder |
|---|---|---|
< 6 months | Diarrhea, failure to thrive Life-threatening infections (eg, pneumonia, sepsis, meningitis) | |
Maculopapular rash, splenomegaly | Severe combined immunodeficiency when accompanied by graft-vs-host disease (eg, caused by transplacentally transferred T cells) | |
Hypocalcemic tetany, a congenital heart disorder, characteristic facial appearance with low-set ears, developmental delay | ||
Recurrent pyogenic infections, sepsis | C3 deficiency | |
Oculocutaneous albinism, neurologic changes, lymphadenopathy | ||
Cyanosis, a congenital heart disorder, midline liver | Congenital asplenia | |
Delayed umbilical cord detachment, leukocytosis, periodontitis, poor wound healing | ||
Abscesses, lymphadenopathy, antral obstruction, pneumonia, osteomyelitis | ||
Recurrent staphylococcal abscesses of the skin, lungs, joints, and viscera; pneumatoceles; coarse facial features; pruritic dermatitis | ||
Chronic gingivitis, recurrent aphthous ulcers and skin infections, severe neutropenia | Severe congenital neutropenia | |
Gastrointestinal bleeding (eg, bloody diarrhea), eczema | ||
6 months to 5 years | Paralysis after oral polio immunization | |
Severe progressive infectious mononucleosis | ||
Persistent oral candidiasis, nail dystrophy, endocrine disorders (eg, hypoparathyroidism, Addison disease) | ||
> 5 years (including adults) | Ataxia, recurrent sinopulmonary infections, neurologic deterioration, telangiectasias | |
Recurrent Neisseria meningitis | C5, C6, C7, or C8 deficiency | |
Recurrent sinopulmonary infections, malabsorption, splenomegaly, autoimmune disorders, nodular lymphoid hyperplasia of the gastrointestinal tract, giardiasis, lymphoid interstitial pneumonia, bronchiectasis | ||
Progressive dermatomyositis with chronic echovirus encephalitis | X-linked agammaglobulinemia | |
* In addition to infection. | ||
Adapted from Stiehm, ER, Conley ME: Immunodeficiency diseases: General considerations, in Immunodeficiency Disease in Infants and Children, ed 5, edited by ER Stiehm. Philadelphia, WB Saunders Company, 2004. | ||