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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
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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
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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
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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
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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
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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
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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
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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
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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
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