Centromeric instability facial anomalies
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ICF syndrome | Genetic and Rare Diseases Information . . .
Immunodeficiency-centromeric instability-facial anomalies . . .
Immunodeficiency-centromeric Instability-facial Anomalies . . .
Immunodeficiency-centromeric instability-facial anomalies . . .
Immunodeficiency, centromeric instability, and facial . . .
Immunodeficiency-Centromeric Instability-Facial Anomalies . . .
Mutations in CDCA7 and HELLS cause immunodeficiency . . .
Immunodeficiency-centromeric Instability-facial Anomalies . . .
Clinical, Immunologic, and Molecular Spectrum of Patients . . .
Heterogeneous clinical presentation in ICF syndrome . . .
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The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized 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 .
ICF syndrome (or I mmunodeficiency, C entromere instability and F acial anomalies syndrome) is a very rare autosomal recessive immune disorder .
Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes .
Definition Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features . Laboratory studies show hypomethylation of certain chromosomal regions .
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation .
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 . Search For A Disorder . Clinical Characteristics . Ocular Features: Patients have been described as having variable oculofacial features including epicanthal folds, hypertelorism, strabismus, and 'tapetoretinal degeneration' . . . .
The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder . Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24 .
Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features . Laboratory studies show hypomethylation of certain chromosomal regions .
Clinical, Immunologic, and Molecular Spectrum of Patients With Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review The frequency of diagnosed patients with ICF syndrome has increased .
Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a primary immunodeficiency, predominantly characterized by agammaglobulinemia or hypoimmunoglobulinemia, . . .
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Centromeric instability facial anomalies
