Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to <i>ZBTB24</i> mutations, presenting with large cerebral cyst

Cerbone, Manuela; Wang, Jun; Maarel, Silvère M. van der; D’Amico, Alessandra; D’Agostino, Antonio; Romano, Alfonso; Brunetti‐Pierri, Nicola

doi:10.1002/ajmg.a.35486

Cited by 31 publications

(32 citation statements)

References 16 publications

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“…13 Of twelve ICF2 patients, half had hypogammaglobulinemia, whereas the other half had agammaglobulinemia. IgA was present in (sub)normal levels in seven patients.…”

Section: Infectionsmentioning

confidence: 98%

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Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

et al. 2013

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Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a primary immunodeficiency, predominantly characterized by agammaglobulinemia or hypoimmunoglobulinemia, centromere instability and facial anomalies. Mutations in two genes have been discovered to cause ICF syndrome: DNMT3B and ZBTB24. To characterize the clinical features of this syndrome, as well as genotype-phenotype correlations, we compared clinical and genetic data of 44 ICF patients. Of them, 23 had mutations in DNMT3B (ICF1), 13 patients had mutations in ZBTB24 (ICF2), whereas for 8 patients, the gene defect has not yet been identified (ICFX). While at first sight these patients share the same immunological, morphological and epigenetic hallmarks of the disease, systematic evaluation of all reported informative cases shows that: (1) the humoral immunodeficiency is generally more pronounced in ICF1 patients, (2) B-and T-cell compartments are both involved in ICF1 and ICF2, (3) ICF2 patients have a significantly higher incidence of intellectual disability and (4) congenital malformations can be observed in some ICF1 and ICF2 cases. It is expected that these observations on prevalence and clinical presentation will facilitate mutation-screening strategies and help in diagnostic counseling.

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“…13 Of twelve ICF2 patients, half had hypogammaglobulinemia, whereas the other half had agammaglobulinemia. IgA was present in (sub)normal levels in seven patients.…”

Section: Infectionsmentioning

confidence: 98%

“…12 ICF2 patient 65 had a large cerebral arachnoidal cyst. 13 ICF1 patient 42 had a rod/cone retinal dystrophy. It is unclear whether this was coincidental.…”

Section: Cerebral Malformationsmentioning

confidence: 99%

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

et al. 2013

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“…He was only diagnosed with it following the same diagnosis in his sister (who did have many features of ICF syndrome) which prompted investigations in the rest of her family 11. Cerbone et al 12 also describe a patient with ICF syndrome with subclinical immunodeficiency (low IgM) and suggest that ICF syndrome could be more common than previously thought.…”

Section: Discussionmentioning

confidence: 99%

Immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome diagnosed in an adult who is now a long-term survivor

et al. 2013

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We describe a 42-year-old British man of Indo-Caribbean origin with immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome. Most patients with ICF syndrome die of infection at a young age, usually in the first or second decade of life. The patient was born 3.5 weeks premature to non-consanguineous parents. He had a mild bird-like face abnormality, but had no other congenital malformations, cognitive impairment or developmental delays. He had recurrent ear and chest infections during childhood and developed bronchiectasis. Investigations revealed IgG, IgA and IgM deficiencies with a normal lymphocyte count and normal T cell proliferation to in vitro mitogenic stimulation. Following several unsuccessful attempts to make a diagnosis during childhood, a recent chromosomal analysis showed centromeric region instability of chromosomes 1 and 16, diagnosing ICF syndrome. The patient receives immunoglobulin replacement for hypogammaglobulinameia and has chest physiotherapy and antibiotics for bronchiectasis. Recently, he developed liver cirrhosis of unknown cause.

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“…8 In ICF2, immunoglobulin class deficiencies are less extreme, with one patient in the study of Cerbone et al even having normal serum IgA and IgG levels. 28 Notably, this patient is the only ICF2 case reported to date harboring two missense mutations in ZBTB24; all other ICF2 patients have at least one predicted premature stop codon. Of the other ICF2 patients in Weemaes et al's study, six had normal levels of IgA and/or IgM.…”

Section: Immunological Findingsmentioning

confidence: 98%

“…Follow-up studies identified other ICF2 families with mutation in ZBTB24, supporting this loss-of-function model. 8,27,28 CLINICAL PRESENTATION…”

Section: Zbtb24 (Omim #614069)mentioning

confidence: 99%

Centromeric Instability in ICF Syndrome

Weemaes

Maarel

2014

Stiehm's Immune Deficiencies

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Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

Cited by 31 publications

References 16 publications

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

Immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome diagnosed in an adult who is now a long-term survivor

Centromeric Instability in ICF Syndrome

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