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Table I.

DOCK8-deficient patients

DOCK8-deficient patients Age at analysis DOCK8 mutation Effect on protein Clinical features 
 yr    
#1 14 Homozygous 114-kb deletion spanning exons 4–26 Not expressed Pneumonia, eczema, cutaneous lesions, fungal infections, eosinophilia; IgE 4,800–10,000 IU/ml 
#2 (patient ARH012; Engelhardt et al., 2009) 12 Homozygous A→T mutation position 70 in exon 7 Premature stop codon: K271X Severe M. contagiosum, pneumonia, meningitis, eczema; IgE 10,000 IU/ml 
#3 Homozygous 150-kb deletion Not expressed M. contagiosum infection (family history) 
#4 10 Large homozygous deletion Not expressed Recurrent otitis media, eczema, HPV, onychomycosis, Salmonella; IgE 1,552 IU/ml; suggestive inflammatory bowel disease and vasculitis 
#5 11 Large homozygous deletion Not expressed Recurrent upper respiratory tract infection, HPV, Giardia lamblia, Salmonella; IgE 19,302 IU/ml; inflammatory bowel disease and vasculitis 
#6 12 c.3733_3734delAG Premature stop codon: p.R1245EfsX5 Eczema (with methicillin-resistant S. aureus infection), M. contagiosum, recurrent otitis media (methicillin-resistant S. aureus), multiple food allergies; IgE ∼1,500 IU/ml 
DOCK8-deficient patients Age at analysis DOCK8 mutation Effect on protein Clinical features 
 yr    
#1 14 Homozygous 114-kb deletion spanning exons 4–26 Not expressed Pneumonia, eczema, cutaneous lesions, fungal infections, eosinophilia; IgE 4,800–10,000 IU/ml 
#2 (patient ARH012; Engelhardt et al., 2009) 12 Homozygous A→T mutation position 70 in exon 7 Premature stop codon: K271X Severe M. contagiosum, pneumonia, meningitis, eczema; IgE 10,000 IU/ml 
#3 Homozygous 150-kb deletion Not expressed M. contagiosum infection (family history) 
#4 10 Large homozygous deletion Not expressed Recurrent otitis media, eczema, HPV, onychomycosis, Salmonella; IgE 1,552 IU/ml; suggestive inflammatory bowel disease and vasculitis 
#5 11 Large homozygous deletion Not expressed Recurrent upper respiratory tract infection, HPV, Giardia lamblia, Salmonella; IgE 19,302 IU/ml; inflammatory bowel disease and vasculitis 
#6 12 c.3733_3734delAG Premature stop codon: p.R1245EfsX5 Eczema (with methicillin-resistant S. aureus infection), M. contagiosum, recurrent otitis media (methicillin-resistant S. aureus), multiple food allergies; IgE ∼1,500 IU/ml 

Patients #4 and #5 are siblings.

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