..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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