[MIM 606 593]

(DNA  ligase IV syndrome)

Very rare. Belongs to the group of diseases due to the failure of repair of the DNA strands. Autosomal recessive transmission of a mutation of the LIG4 gene (13q33-q34).

Clinical presentation:

-            microcephaly -2 to -3 standard deviations of the population

-        facial dysmorphism: beaked face

-        growth retardation

-        pre- and postnatal developmental delay

-        frequent infections: pneumonia, diarrhea, candidosis

-        immunodeficiency: frequent leukopenia and thrombopenia, variable IgG, IgA and IgM deficiency, B-lymphocytes (CD19) and T (CD3 and CD4) deficiency

-        sensitivity to ionizing radiation and increased risk of cancer

Poor prognosis: death in childhood (infections, cancer) even in case of bone marrow transplantation.

Anesthetic implications: 

antibioprophylaxis, sensitivity to radiations, frequent pulmonary infections

References : 

-         Altmann T, Gennery AR.
DNA ligase IV syndrome : a review.
Orphanet J Rare Diseases 2016 ; 11 :137

-        Sun B, Chen Q, Wang Y, Liu D et al. 
LIG4 syndrome : clinical and molecular characterization in a Chinese cohort.
Orphanet J Rare Diseases 2020 ; 15 :131

Updated: June 2020