Характерні клінічні прояви деяких первинних імунодефіцитів

Age Group

Findings*

Disorder

< 6 months

Diarrhea, failure to thrive

Life-threatening infections (eg, pneumonia, sepsis, meningitis)

Severe combined immunodeficiency

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

DiGeorge syndrome

Recurrent pyogenic infections, sepsis

C3 deficiency

Oculocutaneous albinism, neurologic changes, lymphadenopathy

Chédiak-Higashi syndrome

Cyanosis, a congenital heart disorder, midline liver

Congenital asplenia

Delayed umbilical cord detachment, leukocytosis, periodontitis, poor wound healing

Leukocyte adhesion deficiency

Abscesses, lymphadenopathy, antral obstruction, pneumonia, osteomyelitis

Chronic granulomatous disease

Recurrent staphylococcal abscesses of the skin, lungs, joints, and viscera; pneumatoceles; coarse facial features; pruritic dermatitis

Hyper-IgE syndrome

Chronic gingivitis, recurrent aphthous ulcers and skin infections, severe neutropenia

Severe congenital neutropenia

Gastrointestinal bleeding (eg, bloody diarrhea), eczema

Wiskott-Aldrich syndrome

6 months to 5 years

Paralysis after oral polio immunization

X-linked agammaglobulinemia

Severe progressive infectious mononucleosis

X-linked lymphoproliferative syndrome

Persistent oral candidiasis, nail dystrophy, endocrine disorders (eg, hypoparathyroidism, Addison disease)

Chronic mucocutaneous candidiasis

> 5 years (including adults)

Ataxia, recurrent sinopulmonary infections, neurologic deterioration, telangiectasias

Ataxia-telangiectasia

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

Common variable immunodeficiency

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.