Autosomal recessive immune deficiency.

Synopsis

 height Below the third percentile
 weight Below the third percentile
 head circumference below the third percentile
 failure to thrive
 sinusitis
 flat face
 epicanthal folds
 hypertelorism
 low set ears
 flat nasal bridge
 small upturned nose
 micrognathia
 tongue protrusion
 macroglossia
 chronic bronchitis
 bronchiectasis
 pneumonia
 diarrhea
 malabsorption
 variable mental retardation ranging from severe neurodegeneration to mild mental retardation

LABORATORY

 Reduced number of T cells
 Reduced number of natural killer cells
 Reduced IgA
 Increased IgM
 Centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations

Etiology

 germline mutations of DNMT3 in ICF syndrome