Agrawal A. [3]

Hale N.E. [4]

Udaykumar A.M. [5]

Gustavo G. [6]

Our patient

Age at diagnosis (years)

3

1.25

7

14

6

Recurrent infections

−

+

−

−

+

facial dysmorphism

+

+

+

+

+

Macrocephaly

−

+

+

−

+

Camptodactyly

+

−

+

+

+

Deep palmar and planter furrows

+

+

+

+

+

Skeletal defects

+

+

+

+

+

development retardations

+

+

+

+

+

Deafness

−

−

+

−

−

Ocular manifestations

+

+

+

+

−

agenesis of corpus callosum

−

−

+

−

+

Urogenital tract abnormalities

−

+

+

−

+

Congenital heart disease

−

−

−

−

+

Percentage of T8 cells

Blood

fibroblasts

50%

NM

NM

NM

18%

NM

0%

7%

6%

87%