immunodeficiency-centromeric instability-facial anomalies syndrome

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome (ICF) Description

ICF syndrome, also known as Immunodeficiency-Centromere Instability-Facial Anomalies syndrome, is a rare autosomal recessive disease characterized by immunodeficiency, centromeric instability, and facial dysmorphism. The syndrome affects approximately 50 patients worldwide.

Key Features:

• Immunodeficiency: Patients with ICF syndrome have impaired immune function, making them more susceptible to infections.
• Centromeric Instability: This refers to the instability of the centromeres, which are regions on the chromosomes responsible for ensuring proper chromosome separation during cell division.
• Facial Dysmorphism: Individuals with ICF syndrome often exhibit distinctive facial features, such as a narrow forehead, short nose, and prominent jaw.

Additional Information:

• The syndrome is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to develop the condition.
• ICF syndrome is characterized by a combination of immunodeficiency, centromeric instability, and facial anomalies, making it a unique and complex disorder.

References:

• [1] The Immunodeficiency-Centromeric region instability-Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients... (Source: #1)
• ICF syndrome is an autosomal recessive disorder that may be due to variants in the SMCP2 gene. (Source: #3)
• The Immunodeficiency-Centromeric region instability-Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, centromeric instability and facial anomalies... (Source: #5)

Note: The above information is based on the search results provided in the context.

Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunodeficiency, and centromeric instability. The typical facial anomalies include hypertelorism, low-set ears, epicanthus, and macroglossia.

The clinical features of ICF syndrome are variable and may include:

• Abnormality of head or neck
• Anteverted nares
• Depressed nasal bridge
• Epicanthus
• Flat face
• Macroglossia
• Protruding tongue
• Short nose

In addition to these physical characteristics, individuals with ICF syndrome often experience immunodeficiency, which can lead to recurrent infections. The immunodeficiency associated with ICF syndrome is characterized by a deficiency in antibody production and an increased susceptibility to infections.

The symptoms of ICF syndrome can vary in severity and may include:

• Recurrent respiratory tract infections
• Gastrointestinal infections
• Skin infections
• Otitis media (middle ear infection)
• Sinusitis

It's worth noting that the immunodeficiency associated with ICF syndrome is often severe and can lead to life-threatening complications if left untreated.

References: 1. The typical facial anomalies include hypertelorism, low-set ears, epicanthus and macroglossia. Synonym(s): Immunodeficiency-centromeric instability-facial ... 2. Clinical features ; Abnormality of head or neck. Anteverted nares; Depressed nasal bridge; Epicanthus; Flat face; Macroglossia; Protruding tongue; Short nose. 3. Syndrome characterized by immune deficiency associated with recurrent infections and facial dysmorphism. The dysmorphic facial features are variable and ... 6. The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, ...

Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by facial dysmorphism, immunodeficiency, and centromeric instability. Diagnostic tests for ICF syndrome are crucial in confirming the diagnosis.

Standard Metaphase Chromosome Analysis According to [3], standard metaphase chromosome analysis of peripheral blood from pediatric patients displaying symptoms of ICF syndrome is a diagnostic method used to confirm the condition. This test involves analyzing the chromosomes in the patient's blood cells to identify any abnormalities.

Genetic Testing Genetic testing, as mentioned in [9], can also be used to diagnose ICF syndrome. This type of testing can help identify the genetic mutations responsible for the condition.

Other Diagnostic Methods While not specifically mentioned in the search results, other diagnostic methods such as clinical genetic tests (as seen in [1]) and laboratory tests (as mentioned in [4]) may also be used to confirm a diagnosis of ICF syndrome.

It's worth noting that a combination of these diagnostic tests may be necessary to confirm a diagnosis of ICF syndrome. Consultation with a medical professional is recommended for accurate diagnosis and treatment.

References: [1] Clinical Genetic Test offered by Laboratorio de Genetica Clinica SL [3] M Ehrlich · 2006 · Cited by 146 — ICF is diagnosed by standard metaphase chromosome analysis of peripheral blood from paediatric patients (often babies or toddlers) displaying otherwise ... [4] Could it be your immune system? Types of PI · Diagnosis · Overview · Laboratory tests · Newborn screening · Genetic testing · Treatment · Overview [9] Genetic tests related with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Treatment Options for Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Immunodeficiency-Centromeric Instability-Facial Anomalies (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immune deficiency, and centromeric instability. While there are no specific treatments that can cure the condition, various therapies have been employed to manage its symptoms.

Standard Treatment

The standard treatment for ICF syndrome involves regular infusions of immunoglobulins, mostly intravenously [1]. This helps to replace the missing antibodies in the body and prevent recurrent infections. Additionally, antibacterial prophylaxis is often prescribed to prevent bacterial infections [3].

Hematopoietic Stem Cell Transplantation (HSCT)

In some cases, HSCT has been curative for individuals with severe cellular dysfunction associated with ICF syndrome [2]. This treatment involves replacing the faulty stem cells in the bone marrow with healthy ones.

Other Therapeutic Approaches

Researchers have identified a homozygous mutation of the ZBTB24 gene as responsible for ICF syndrome type 2 [4]. Further studies on this gene may lead to new treatments or therapies for ICF syndrome. Additionally, investigations into diseases with defects in regulating genomic methylation patterns may yield novel therapeutic approaches [5].

Current Status

Unfortunately, there is no cure or specific treatment available for ICF syndrome at present. However, the standard treatment options mentioned above can help manage its symptoms and prevent complications.

References:

[1] Ehrlich, M. (2006). Treatment almost always includes regular infusions of immunoglobulins, mostly intravenously. Recently, bone marrow transplantation has been tried. Disease name ...

[2] Ig replacement therapy is the standard treatment. Hematopoietic stem cell transplantation (HSCT) has been curative for those with severe cellular dysfunction ...

[3] Treatment includes regular infusions of immunoglobulins, mostly intravenously, and antibacterial prophylaxis. Hematopoietic stem cell transplantation (HSCT) is ...

[4] Cerbone, M. (2012). We describe a patient carrying a homozygous mutation of the ZBTB24 gene, which has been recently shown to be responsible for ICF syndrome type 2.

[5] In addition, these studies may yield new treatments for ICF syndrome or diseases with defects in regulating genomic methylation patterns.

The differential diagnosis for Immunodeficiency-Centromeric Instability-Facial Anomalies (ICF) syndrome includes other syndromic combined immunodeficiencies, such as Bloom syndrome (BS), ataxia-telangiectasia (AT), and Nijmegen breakage syndrome (NBS). These conditions are characterized by similar symptoms, including variable immunodeficiency, centromeric instability, and facial anomalies.

• Similarities with other syndromes:
  • Variable immunodeficiency: ICF syndrome is associated with a range of immunological defects, which can be similar to those found in BS, AT, and NBS.
  • Centromeric instability: The