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11 Cards in this Set

  • Front
  • Back
Clinical Chronic Granulomatous Disease
Inheritance
X linked recessive (76%) gp9l phox (phagocyte oxidase) gene on Xp21.1;

autosomal recessive (24%) p47 (more common), p67 phox genes on 7q11,
1 q respectively
Prenatal
DNA analysis
Fetal blood sample nitroblue tetrazolium (NBT) reduction assay of fetal leukocytes
Incidence
Approximately 1:250,000 to 500,000; M:F=9:1
Age at Presentation
Birth to 1 year old
Pathogenesis
Genetically heterogeneous group of immunodeficiency disorders caused by phox
mutations in the nicotinamicle clehydrogenase phosphate (NADPH) oxidase enzyme
complex leading to an inability to produce a respiratory burst and defective killing off
catalase positive organisms within phagocytic leukocytes;

(respiratory burst occurs
when NADPH oxidase acts as a catalyst for the production of superoxides and
ultimately microbicidal oxidants)
Clinical
Skin
Recurrent pyoderma (Staphyloccus aureus most common), periorificial dermatitis with purulent drainage and regional lymphadenopathy, abcesses (perianal most common), granulomas

Mucous Membranes
Ulcerative stomatitis, chronic gingivitis

Lymph Nodes
Suppurative lymphadenitis with abscesses and fistulas (cervical nodes most common)

Lungs
Pneumonia with abscesses, cavitations, empyema (Staphylococcus, Aspergillosis, Nocardia)

Gastrointestinal Tract Hepatosplenornegaly with granulomas, abscesses, chronic diarrhea, malabsorption

Musculoskeletal
Osteomyelitis (serratia marcescens most common), short stature
DDx
Hyper IgE syndrome
SCID
Chediak Higashi syndrome
B lymphocyte disorders
Lab
NBT reduction assay: leukocytes unable to reduce dye no blue color change

CBC, erythrocyte sedimentation rate (ESR), immunoglobulin levels, chest x ray, de¬layed hypersensitivity skin test normal

Lungs, liver, bone imaging locate occult inflammation; bacterial cultures

Immunoblot analysis of defective NADPH enzymes; DNA analysis
Management
Referral to infectious disease special ist antibiotics
Referral to surgery debridement, drainage, access to deeper infections; systemic steroids for obstructive visceral granulomas
Referral to dermatologist topical and oral antibiotics, topical corticosteroids, an¬tibacterial cleansers
Leukocyte transfusions, subcutaneous gamma interferon, BMT
Gene therapy for p47 phox form has been attempted with some persistence of cor-rected leukocytes at 6 months Identify carriers and evaluate for lupus like syndrome
Prognosis
Variable life span depending on control of infections; most with normal I ife span but poor quality of life