Table 1.

Clinical features of 14 patients with the homozygous mutation in SAMHD1 gene

FeaturesIncidence, % or average age
Neonatal features
 Mild intrauterine growth restriction (<15th percentile)93 (13/14)
 Underdeveloped (thin and transparent) skin at birth50 (7/14)
Severe infantile irritability62 (8/13)
Hypotonia54 (7/13)
Failure to thrive85 (11/13)
Short stature (<5th percentile)92 (12/13)
Poor tolerance to extreme (cold and hot) environments85 (11/13)
Acrocyanosis of hands, feet and face85 (11/13)
Raynaud’s phenomenon85 (11/13)
Chilblain lesions in acral locations62 (8/13)
 Age of onset5 y (1–7)
Low-pitch hoarse voice90 (9/10)
 Age of onset7 y (3–12)
High-arched palate85 (11/13)
Glaucoma23 (3/13)
Migraine headache30 (3/10)
Seizure38 (5/13)
Hypothyroidism23 (3/13)
Joint stiffness or arthritis77 (10/13)
Scoliosis46 (6/13)
Hemorrhagic stroke
 Confirmed54 (7/13)
 Suspected15 (2/13)
Cognitive development
 Severely delayed31 (4/13)
 Mildly delayed31 (4/13)
 Normal38 (5/13)
Elevated erythrocyte sedimentation rate (ESR)82 (9/11)
Hyperimmunoglobulin G83 (5/6)
Elevated neopterin100 (3/3)
  • Incidence is expressed as a percentage with the number of patients applied in parentheses. The numbers in parentheses behind average age are ranges.