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5q23-35
Gene region implicated in allergic diseases and pathogenesis
• Allergen causing symptoms (etiological classification)
• Duration of symptoms (Intermittent or Persistent)
• Severity of clinical symptoms (depending on impact of disease on QOL)
Disease pathophysiology (limited use)
Criteria for classifying Allergic rhinitis
Seasonal
AR which occurs only during specific periods of the year: e.g. pollination, mold sporulation
Perennial
AR triggered by allergens formed in the patient's environment at concentrations sufficient to induce symptoms all year round: dust mites, pet fur, cockroach.
Episodic
AR after exposure to a specific airborne allergen on a sporadic and short-term basis
Intermittent
AR with symptoms less than 4 days/week or less than a month/year
Persistent
AR with symptoms ≥ 4 days/week or ≥ a month/year
Mild AR
AR which symptoms do not affect sleep, no impairment in ADLs, work, school, and no troublesome symptoms
6 y/o
Diagnosis of AR is generally established by what age?
Oral H1-antihistamine
OR
Intranasal H1-antihistamine
AND/ORDecongestantORLTRA
Treatment options for mild intermittent AW
Intranasal corticosteroids
Drug added for step up therapy among patients with moderate-severe intermittent and mild persistent AR
B cell Immunodeficiency (Bruton Disease)
An infant was born normal until when he reached 6 months old, he has recurrent ear infections, bronchitis, pneumonia, and dermatitis. Total Ig < 250 mg/dL. Impression?
SCID
A young infant came in with failure to thrive, chronic otitis media, chronic diarrhea, recurrent pneumonia, and candida infection. On xray, there was absent thymic shadow. Impression?
CATCH 22
• Cardiac defect
• Abnormal facies
• Thymic aplasia
• Cleft palate
• Hypocalcemia
22q11.2 chromosomal deletion
Features of Di George syndrome?
Wiskott-Aldrich syndrome
A child presenting with immunodeficiency signs but with Thrombocytopenia and Eczema. Impression?
Hyper IgM syndrome
A profoundly neutropenic 2 y/o child came in for recurrent pyogenic infections and was later diagnosed with P. jiroveci pneumonia. Lab test showed depressed IgA, IgE, and IgG but normal IgM. Impression?
Judicious use of antibiotics for infections
Regular IVIG/SubQ Ig
Primary B cell defect treatment
Bone marrow transplant
Management of SCID
Hyper IgE syndrome
A child came in for recurrent bacterial abscesses, aspergillosis, and mucocutaneous candidiasis.
Chediak-Higashi syndrome
This Neutrophil function disorder is characterized by recurrent pyogenic infections, mild bleeding diathesis, partial oculo-cutaneous albinism, progressive peripheral neuropathy, and photophobia.
Leukocyte adhesion deficiency
Infant with recurrent bacterial infection associated with a lack of pus formation, bleeding tendency; delayed umbilical cord separation with significant omphalitis.
Chronic granulomatous
disease
Infant presenting with recurrent pyogenic infections with catalase-positive microorganisms, lymphadenitis, and granuloma formation.