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2011-12-04 15:55:44

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  1. Chronic Granulomatous Disease (CGD)
    • Xlinked disease in which neutrophils ingest bacteria but cannot kill them
    • h/o recurrent pneumonias, frequent or unusual skin infections, multifocal osteo, hepatic abscesses, frequent or unusual lymphadenitis
    • Testing with nitroblue tetrazolium (NBT) or flow cytometry for dihydrorhodamine 123
    • Treat with prophylactic antibiotics (Bactrim and itraconazole), interferon gamma with severe infections.
    • Cure with transplant
  2. Wiskott-Aldrich
    • Xlinked disorder with severe eczema, recurrent infections and thrombocytopenia with small platelets
    • Infections include recurrent OM, PNA, sinusitis as well as severe infections (sepsis, meningitis, opportunistic infx)
    • Can present initially with prolonged bleeding after a circumcision or bloody diarrhea in infancy
    • Treat with splenectomy if severe TCP; BMT; gene therapy
  3. 22q Deletion Syndromes (DiGeorge or Velocardiofacial Syndromes)
    • Variable Tcell deficiency from thymic hypoplasia, parathyroid dysfunction and heart and facial defects
    • Clinically: neonatal tetany/seizures from hypocalcemia; congenital heart disease; recurrent otitis and conductive hearing loss; speech delay and mild MR; autoimmune disease in 10%
    • Develop prolonged and severe respiratory viral infections and opportunistic infections
    • Dx with FISH studies and flow cytometry of B and T cells
  4. Ataxia-Telangiectasia
    • Autosomal recessive disorder with DNA breakage
    • Recurrent respiratory infections, truncal ataxia with difficulty walking at age 1, bulbar telangiectasias (starts at age 3)
    • Most develop IgA and IgG2 deficiencies
    • IVIG if Ig deficiencies; supportive care and avoidance of live virus vaccines
  5. Chediak-Higashi Syndrome
    • Autosomal recessive
    • In infancy, recurrent skin and sinopulmonary infections, severe gingivitis and periodontal disease
    • Silvery hair, pale translucent iris, fair skin with easy bruisability
    • Adolescents may present with dementia or neuropathy
    • Most have an accelerated phase with hemophagocytic syndrome resembling T cell lymphoma
    • Blood smear with giant granules in PMNs
    • BMT is treatment
  6. Common Variable Immunodeficiency
    • Heterogeneous group of disorders with decreased antibody production and recurrent bacterial infections (sinusitis and pneumonia)
    • Dx with quant Igs (2 of 3 are low), isohemagglutinins; poor antibody response to tetanus and pneumococcal
    • Tx with IVIG q3-4wks, prophylactic antibiotics
  7. Hyper-IgE Syndrome (Job Syndrome)
    • High IgE levels and recurrent bacterial skin and pulmonary infections (defective neutrophils)
    • Eczema in infancy, delayed secondary teeth eruption, recurrent infections, fungal infections (thrush, esophageal candida, increased fx incidence with osteo
    • Facial assymetry, frontal bossing, wide nose base with fleshy nasal tip, high arched palate
  8. Severe Combined Immunodeficiency (SCID)
    • Presents at 6mo with pneumonia, diarrhea, otitis, sepsis, or skin infections. Opportunistic infections are frequent and persistent
    • FTT from infections with small or absent lymphoid tissue
    • Dx: lymphopenia; flow cytometry of T cells; abnormal T and B cell function; low IgG and IgM
    • BMT ASAP, no live vaccines
  9. X-Linked Agammaglobulinemia
    • Defect in B cell maturation leading to bacterial infections: sinusitis, otitis, pneumonia and bronchitis
    • Skin and joint infections are common
    • Enteroviral infections can be very severe
    • Absence of lymphoid tissue
    • Tx with IVIG q3-4wks and avoid live virus vaccines