..ICF syndrome
Immunodeficiency, Centromeric instability, and Facial anomalies syndrome, is a very rare genetic disorder. It is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for their child to be affected12.
:Key Characteristic
Immunodeficiency: Patients often have low levels of immunoglobulins (IgG, IgM, and/or IgA), making them more susceptible to infections12
Centromeric Instability: This involves abnormalities in the centromeric regions of chromosomes, particularly chromosomes 1, 16, and sometimes 923
Facial Anomalies: Common features include hypertelorism (wide-set eyes), low-set ears, epicanthal folds, and a large tongue (macroglossia)12
;Additional Symptoms
Intellectual disability
Recurrent respiratory infections
Integumentary (skin) and digestive system infections12
Genetic Causes
Mutations in several genes can cause ICF syndrome, including
DNMT3B on chromosome 20
CDCA7 on chromosome 2
HELLS on chromosome 10
ZBTB24 on chromosome 612
Diagnosis and Treatment
Diagnosis typically involves genetic testing, such as karyotyping or DNA sequencing1. Treatment often includes regular intravenous immunoglobulin infusions to boost the immune system1. In some cases, hematopoietic stem cell transplantation (HSCT) has been used to correct the immunodeficiency1
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