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 | 4 | 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 | 4 | 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.