Medication Summary
The goals of pharmacotherapy are to reduce morbidity and prevent complications.
Antibiotics
Class Summary
Empiric therapy should be comprehensive in the context of the clinical setting.
Sulfamethoxazole (SMZ) and trimethoprim (TMP) (Bactrim, Bactrim DS)
Inhibits bacterial growth by inhibiting synthesis of dihydrofolic acid.
Antibacterial activity of TMP-SMZ includes common urinary tract pathogens, except Pseudomonas aeruginosa.
Azithromycin (Zithromax, Z-Pak)
Acts by binding to 50S ribosomal subunit of susceptible microorganisms and blocks dissociation of peptidyl tRNA from ribosomes, causing RNA-dependent protein synthesis to arrest. Nucleic acid synthesis is not affected.
Concentrates in phagocytes and fibroblasts as demonstrated by in vitro incubation techniques. In vivo studies suggest that concentration in phagocytes may contribute to drug distribution to inflamed tissues.
Treats mild-to-moderate microbial infections.
Amoxicillin and clavulanate (Augmentin)
Amoxicillin inhibits bacterial cell wall synthesis by binding to penicillin-binding proteins. Addition of clavulanate inhibits beta-lactamase producing bacteria.
Good alternative antibiotic for patients allergic or intolerant to the macrolide class. Usually is well tolerated and provides good coverage to most infectious agents. Not effective against Mycoplasma and Legionella species. The half-life of oral dosage form is 1-1.3 h. Has good tissue penetration but does not enter cerebrospinal fluid.
For children >3 months, base dosing protocol on amoxicillin content. Due to different amoxicillin/clavulanic acid ratios in 250-mg tab (250/125) vs 250 mg chewable-tab (250/62.5), do not use 250-mg tab until child weighs >40 kg.
Beta2-adrenergic agonists
Class Summary
These agents are used to treat bronchospasm refractory to epinephrine.
Albuterol (ProAir HFA, Proventil, Ventolin HFA, AccuNeb)
Beta-agonist for bronchospasm refractory to epinephrine. Stimulates adenyl cyclase to convert ATP to cAMP and causes bronchodilation. Relaxes bronchial smooth muscle by action on beta2-receptors with little effect on cardiac muscle contractility. May decrease mediator release from mast cells and basophils and inhibit airway microvascular leakage.
Frequency may be increased. Institute regular schedule in patients on anticholinergic drugs who remain symptomatic. Available as liquid for nebulizer, MDI, and dry powder inhalers.
Continuous therapy may reduce need for mechanical ventilation.
Nutritional Supplement
Class Summary
Calcium supplements are used to strengthen bones.
Calcium carbonate (Oyster Shell Calcium, Cal-Carb Forte)
Calcium supplementation in patients at young ages has been proven to lower the incidence of fractures.
Vitamin, Fat Soluble
Class Summary
Agents that promote calcium absorption are used.
Cholecalciferol (Vitamin D3)
Promotes absorption of calcium and phosphorus in small intestine. Promotes renal tubule resorption of phosphate. Increases rate of accretion and resorption in bone minerals.
Antifungal agents
Class Summary
These agents are used to treat mucocutaneous candidiasis and onychomycosis.
Itraconazole (Sporanox)
Fungistatic activity. Synthetic triazole antifungal agent that slows fungal cell growth by inhibiting CYP-450–dependent synthesis of ergosterol, a vital component of fungal cell membranes.
Fluconazole (Diflucan)
Synthetic oral antifungal (broad-spectrum bistriazole) that selectively inhibits fungal cytochrome P-450 and sterol C-14 alpha-demethylation, which prevents conversion of lanosterol to ergosterol, thereby disrupting cellular membranes. Has little affinity for mammalian cytochromes, which is believed to explain its low toxicity. Available as tablets for oral administration, as a powder for oral suspension, and as a sterile solution for IV use. Has fewer adverse effects and better tissue distribution than older systemic imidazoles.
Daily dose varies with indication.
Posaconazole (Noxafil)
Triazole antifungal agent. Blocks ergosterol synthesis by inhibiting the enzyme lanosterol 14-alpha-demethylase and sterol precursor accumulation. This action results in cell membrane disruption. Available as oral susp (200 mg/5 mL). Indicated for prophylaxis of invasive Aspergillus and Candida infections in patients at high risk because of severe immunosuppression.
Voriconazole (Vfend)
Used for primary treatment of invasive aspergillosis and salvage treatment of Fusarium species or Scedosporium apiospermum infections. A triazole antifungal agent that inhibits fungal CYP450-mediated 14 alpha-lanosterol demethylation, which is essential in fungal ergosterol biosynthesis.
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STAT3 gene is diagrammed with depiction of hotspots (areas where higher numbers of patients were noted to have mutations).
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HIES scoring sheet. A score >40 is considered likely HIES, 20-40 indeterminate, < 20 unlikely HIES.
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Recurrent pneumonias, particularly those due to S aureus, may lead to pneumatocele formation. Pneumatoceles such as those demonstrated in this CT image may then allow fungal superinfection.
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Brain hyperintensities have been noted to be present with increased frequency in patients of all ages with Job syndrome.
Tables
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0 |
1 |
2 |
3 |
4 |
5 |
6 |
7 |
8 |
10 |
Clinical Findings |
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|
|
|
|
|
|
|
|
|
Highest IgE (IU/mL) |
< 200 |
200-500 |
|
|
501-1000 |
|
|
|
1001-2000 |
>2000 |
Total # skin abscesses/boils |
None |
|
1-2 |
|
3-4 |
|
|
|
>4 |
|
Total # pneumonias |
None |
|
1 |
|
2 |
|
3 |
|
>3 |
|
Parenchymal lung abnormalities |
None |
|
|
|
|
|
Bronchiectasis |
|
Pneumatocele |
|
Other serious infection |
None |
|
|
|
Present |
|
|
|
|
|
Fatal infection |
None |
|
|
|
Present |
|
|
|
|
|
Highest eosinophils/uL |
< 700 |
|
|
701-800 |
|
|
>800 |
|
|
|
Newborn rash |
None |
|
|
|
Present |
|
|
|
|
|
Eczema (worst stage) |
None |
Mild |
Moderate |
|
Severe |
|
|
|
|
|
Sinusitis/otitis (# in worst year) |
1-2 |
3 |
4-6 |
|
>6 |
|
|
|
|
|
Candidiasis |
None |
Oral, vaginal |
Fingernail |
|
Systemic |
|
|
|
|
|
Retained primary teeth |
None |
1 |
2 |
|
3 |
|
|
|
>3 |
|
Scoliosis (max. curvature) |
< 10 |
|
10-14 |
|
15-20 |
|
|
|
>20 |
|
Minimal trauma fractures |
None |
|
|
|
1-2 |
|
|
|
>2 |
|
Hyperextensibility |
None |
|
|
|
Present |
|
|
|
|
|
Characteristic face |
None |
|
Mild |
|
|
Present |
|
|
|
|
Increased interalar distance |
< 1 SD |
1-2 SD |
|
>2 SD |
|
|
|
|
|
|
High palate |
None |
|
Present |
|
|
|
|
|
|
|
Congenital anomaly |
None |
|
|
|
|
Present |
|
|
|
|
Lymphoma |
None |
|
|
|
Present |
|
|
|
|
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