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

Sathasivam, Santron; Selvakumaran, Aran; Jones, Quentin; Wathen, C G

doi:10.1136/bcr-2013-200170

Cited by 3 publications

(3 citation statements)

References 12 publications

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“…Mortality rate of the ICF2 is estimated on the level of 20% with opportunistic and pulmonary infections as the main cause of death [6,29,30]. Most of them die at a young age, usually in the first or second decade of life [29,31]. Prognosis among ICF patients are usually better in cases without combined-type immunodeficiency, while gastrointestinal problems leading to diarrhea and thrive issues significantly worsen them [6,29].…”

Section: Mds and Allo-hsctmentioning

confidence: 99%

Myelodysplastic syndrome and pulmonary alveolar proteinosis in a 6-year-old girl with mutation of the ZBTB24 gene

Homa,

Janiuk

et al. 2023

Acta Haematol Pol.

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In this article, we would like to present rare diseases, which are immunodeficiency, centromeric instability and facial dysmorphism syndrome (ICF), and myelodysplastic neoplasm (MDS), with possible complications of their course and treatment with particular emphasis on pulmonary alveolar proteinosis (PAP). We are basing that review on our experience that we have gained through the diagnostic and treatment process of our pediatric patient. MDS is a rare disease among children that has a different and uncharacteristic clinical course and genetic background in comparison to MDS occurring in adults. Regarding the uncharacteristic clinical picture, the differential diagnosis can be a challenge for clinicians. In that process also diseases characterized by immunodeficiency should be taken into account, including the ICF. ICF type 2 is an autosomal recessive disease that manifests by agammaglobulinemia or hypogammaglobulinemia, developmental delay, and facial anomalies. Both ICF and MDS can be treated with an allogeneic hematopoietic stem cell transplantation. One of the possible complications in the course and treatment of MDS and ICF can be PAP. Its pathogenesis is based on the accumulation of surfactant in alveoli that leads to pulmonary insufficiency. As hematologic diseases and their treatment are known for their impact on multiple systems, we find the unique value of this article in being the first description of the coexistence of ICF type 2 with PAP.

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Section: Mds and Allo-hsctmentioning

confidence: 99%

Myelodysplastic syndrome and pulmonary alveolar proteinosis in a 6-year-old girl with mutation of the ZBTB24 gene

Homa,

Janiuk

et al. 2023

Acta Haematol Pol.

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“…Liver involvement is described in small studies as well as case reports throughout the literature. [137,138] In a large study with 44 patients with ICF, 2 patients developed macronodular cirrhosis; 1 patient with ICF I developed cirrhosis after treatment of acute lymphoblastic leukemia; and another patient with ICF II developed cirrhosis in a setting of granulomatous hepatitis. Granulomatous hepatitis presents with transaminitis with hepatomegaly with granulomas on liver biopsy.…”

Section: Immunodeficiency Centromeric Region Instability Facial Anoma...mentioning

confidence: 99%

Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity

et al. 2022

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Inborn errors of immunity (IEIs) consist of numerous rare, inherited defects of the immune system that affect about 500,000 people in the United States.As advancements in diagnosis through genetic testing and treatment with targeted immunotherapy and bone marrow transplant emerge, increasing numbers of patients survive into adulthood posing fresh clinical challenges.A large spectrum of hepatobiliary diseases now present in those with immunodeficiency diseases, leading to morbidity and mortality in this population. Awareness of these hepatobiliary diseases has lagged the improved management of the underlying disorders, leading to missed opportunities to improve clinical outcomes. This review article provides a detailed description of specific liver diseases occurring in various inborn errors of immunity.A generalized approach to diagnosis and management of hepatic complications is provided, and collaboration with hepatologists, immunologists, and pathologists is emphasized as a requirement for optimizing management and outcomes.

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“…A small group of cases with the unknown genetic mutation is also described as ICFX. 3 Patients with ICF are subjected to recurrent infections and immunodeficiency especially humoral immune system defects, which manifest as a reduction in immunoglobulins. Although, B-lymphocyte count is normal.…”

Section: Introductionmentioning

confidence: 99%

Immunodeficiency, Centromeric Region Instability, and Facial Anomalies Syndrome (ICF) in a Boy with Variable Clinical and Immunological Presentations

Bemanian

Arshi

Nabavi

et al. 2021

IJAAI

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Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare primary immunodeficiency disorder characterized by recurrent infections and low immunoglobulin levels due to variable combined immunodeficiency, and centromeric region instability, and facial dysmorphism. We describe a 12-year-old boy with recurrent respiratory tract infections, facial anomalies, scoliosis, and psychomotor retardation. He had recurrent pneumonia with low serum IgG and IgM levels during infancy and preschool age. Later at the age of 10, he developed recurrent ear infections. An IgA and IgM deficiency was found accompanied by a normal B-cell and T-cell count as well as an impaired candida-induced T-cell proliferation. Further evaluations revealed a missense mutation in the DNMT3B gene on chromosome 20. Chromosomal analysis showed a sunburst multi-radial feature on chromosome 1, which is a hallmark of ICF syndrome. The genetic mutation and chromosomal abnormality along with clinical findings are compatible with the diagnosis of ICF syndrome. To the best of our knowledge, this is the first time that scoliosis is observed in an ICF patient. The additional variable clinical symptoms in the case were the presence of spastic gait as well as hypogammaglobulinemia with immunoglobulin isotype switch at different ages.

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

Cited by 3 publications

References 12 publications

Myelodysplastic syndrome and pulmonary alveolar proteinosis in a 6-year-old girl with mutation of the ZBTB24 gene

Myelodysplastic syndrome and pulmonary alveolar proteinosis in a 6-year-old girl with mutation of the ZBTB24 gene

Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity

Immunodeficiency, Centromeric Region Instability, and Facial Anomalies Syndrome (ICF) in a Boy with Variable Clinical and Immunological Presentations

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