Engelhardtet al. 2015 studied a cohort of 82 patients from 60 families with autosomal recessive hyper-IgE syndrome (AR-HIES). Three homozygous mutations in DOCK8 gene – p.E750X , >80kb 5’ deletion including Ex1_2del, and Ex29_36del – were identified in three families from Lebanon.

Alsum et al. (2013) studied the clinical and molecular characteristics of 25 patients diagnosed with AR-HIES.  A genetic analysis revealed DOCK8 mutations in 13 of the 17 screened individuals.  Of these, seven patients from three families carried the 5625T>G (Y1875X) mutation in exon 44.  Two patients of the same tribe carried the mutation 5132C>A (S1711X) in exon 40 while one patient had a splice site mutation c.827+6 T>C.  All three mutations were novel and were predicted to result in a truncated protein.  This was confirmed in the patient with the splice site mutation by western blot analysis, which found no DOCK8 expression.  In three patients, large deletions were discovered which would abolish DOCK8 expression.  An additional four patients were assumed to be DOCK8 deficient due to siblings with confirmed DOCK8 mutations and similar clinical presentations.  

AlKhater, 2016 described a 6-year-old Yemeni girl, born to consanguineous parents, who presented with eczema, skin abscesses, and recurrent bronchopneumonia.  She also exhibited recurrences of Herpes zoster involving multiple dermatomes and persistent Molluscum contagiosum infections of the skin.  Immunological analysis showed leukocytosis at 31 × 10⁹/L, extreme peripheral eosinophilia as high as 18,000 × 10⁹/L, an elevated IgG level of 2,530 mg/dl, and an elevated serum IgE level of 41,000 IU/ml.  At 8 years of age, she had dysphasia, visual hallucinations, ipsilateral ptosis, acute left eye squinting, and fatigue.  During three-week period she developed excessive sleepiness, dizziness, and unsteady gait.  In addition, she had severe dermatitis on the back and buttocks and eczematous eruptions on the flexures of the arms and popliteal region.  With steroids and mycophenolate mofetil (MMF) treatment, she remained symptom-free, and no vasculitis or infectious flare-ups have occurred.  The patient made remarkable recover of most of her neurological deficits with effective treatments.   By performing polymerase chain reaction (PCR) and multiplex ligation probe amplification (MLPA), a large homozygous deletion of the DOCK8 gene on chromosome 9 was identified.