Skip to main content

Table 1 Clinical details of patients A, B, C, D and E affected by LICS syndrome

From: New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)

  Family 1 Family 2
A B C D E
Gender (M/F) M F F M F
Age at death (months) 15 11 15 11 78
Mutation NSMCE3 Homozygous NSMCE3 (NM_138704.3):c.790C > T Homozygous NSMCE3 (NM_138704.3):c.790C > T
Common features
 Gestational age (weeks) 38 + 3 37 37 + 3 41 AT
 Birth weight (grams) 2450 2240 3100 3380 4000
 SGA  +   + 
 FTT ++  ±  ++  +  ++
Neurological features
 Delayed motor milestones  +   +   +   + 
Increased infection susceptibility
Pulmonary features
 Interstitial pneumonia  +   +   +   +  NR
 Viral pneumonia
Thymic hypoplasia NR NR NR
Hypo- or hyperglycemia NR Hyper Hyper NR Hypo
Hepato-splenomegaly NR  +  NR NR  + 
  1. M male, F female, AT at term, NR not reported
  2. ++present and severe, +present, ±developing, −absent