Immunodeficiency - centromeric region instability - facial anomalies syndrome (Q102709): Difference between revisions
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A síndrome de Imunodeficiência, instabilidade da região Centromérica, anomalias Faciais (ICF) é uma imunodeficiência primária autossômica recessiva rara caracterizada por imunodeficiência, embora células B estejam presentes, e por rearranjos característicos nas proximidades dos centrômeros (a heterocromatina justacentromérica) dos cromossomos 1 e 16 e, às vezes, 9. Outros sintomas variáveis incluem dismorfismo facial leve, retardo de crescimento, déficit de crescimento e atraso psicomotor. | |||
| description / en | description / en | ||
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive primary immune deficiency characterised by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. Other variable symptoms include mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation. | |||
Revision as of 19:54, 16 August 2026
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive primary immune deficiency characterised by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. Other variable symptoms include mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1446083793 |
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| English | Immunodeficiency - centromeric region instability - facial anomalies syndrome |
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive primary immune deficiency characterised by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. Other variable symptoms include mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation. |
