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ICF syndrome

(MIM.242860)

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