FILS Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

FILS (facial dysmorphism, immunodeficiency, livedo, short stature ) syndrome, FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome, FILS syndrome

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Introduction

A rare genetic disease with characteristics of facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naive T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4. Patients do not exhibit increased susceptibility to cancer. There is evidence the disease is caused by homozygous mutation in the POLE gene on chromosome 12q24.

100 Clinical Results associated with FILS Syndrome

100 Translational Medicine associated with FILS Syndrome

0 Patents (Medical) associated with FILS Syndrome

Literatures (Medical) associated with FILS Syndrome

01 Nov 2021·Quantitative Imaging in Medicine and SurgeryQ3 · MEDICINE

Ultra-high b-value DWI in distinguishing fresh gray matter ischemic lesions from white matter ones: a comparative study with routine and high b-value DWI

Q3 · MEDICINE

Article

Author: Cai, Guoen ; Xu, Xue ; Jiang, Rifeng ; Chen, Jianhua ; Sun, Yifan ; Xue, Yunjing ; Huang, Xinming

BACKGROUNDFresh ischemic lesions (FILs) can occur in both the brain's gray matter (GM) and white matter (WM), with each location signifying a different prognosis for patients. This study aims to investigate the application of ultra-high b value diffusion-weighted imaging (DWI) in distinguishing FILs in these two areas via a comparative study with routine and high b value DWI.METHODSMultiple b value DWI (b=0, 500, 1,000, 2,000, 4,000, 6,000, 8,000, 10,000 s/mm²) was performed on 47 patients with suspected acute ischemic stroke (AIS). Apparent diffusion coefficient (ADC) maps, including ADC₅₀₀, ADC_1,000, ADC_2,000, ADC_4,000, ADC_6,000, ADC_8,000, and ADC_10,000, were calculated, and the mean ADC value of the FILs in the GM and WM on each map was obtained by referring to the structural magnetic resonance imaging (MRI). ADC value differences of the FILs in the GM and WM were compared using Mann-Whitney U tests, and receiver operating characteristic (ROC) curves evaluated the diagnostic efficiency of each ADC value in distinguishing FILs in the two areas.RESULTSIn the enrolled 34 patients, 145 FILs were identified, of which 42 involved the GM, 87 the WM, and 16 both the GM and WM. A total of 161 regions were delineated, 58 in the GM and 103 in the WM. The values of FILs in the WM on ADC_2,000, ADC_4,000, ADC_6,000, ADC_8,000, and ADC_10,000 maps were significantly lower than those in the GM (P=0.007, P<0.001, P<0.001, P<0.001 and P<0.001, respectively), while no significant differences were found on ADC₅₀₀ and ADC_1,000 maps (P=0.427 and P=0.225, respectively). ROC curves demonstrated that the area under the curve (AUC) paralleled the increasing b value, ascending from ADC₅₀₀ to ADC_10,000 (0.538, 0.558, 0.629, 0.766, 0.827, 0.859, 0.872, in that order).CONCLUSIONSUltra-high b value DWI is extremely sensitive to the slight diffusion difference between FILs in the GM and the WM. Its sensitivity parallels the increasing b value, indicating its clinical advantage in identifying the microstructure of FILs.

01 Sep 2020·Pediatric DermatologyQ4 · MEDICINE

Filling in the gaps on FILS syndrome: A case report and literature review

Q4 · MEDICINE

Review

Author: Prijoles, Eloise J. ; Aleisa, Ahmad ; Eason, Chelsea ; Jones, Julie R. ; Wine Lee, Lara

AbstractFILS syndrome (facial dysmorphism, immunodeficiency, livedo, and short stature) is a rare autosomal recessive disorder caused by pathogenic alterations in the POLE gene leading to multisystemic manifestations, including poorly characterized skin findings. We report a child with a homozygous variant, c.100C > T (p.Arg34Cys), in POLE and features consistent with poikiloderma, expanding the dermatologic signs associated with this rare disorder. Additionally, we review reported cases of FILS syndrome, discuss possible pathomechanisms for our patient's presentation, and consider implications for management.

17 Dec 2012·Journal of Experimental MedicineQ1 · MEDICINE

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

Q1 · MEDICINE

Article

Author: Revy, Patrick ; Cormier-Daire, Valéry ; Bole-Feysot, Christine ; de Villartay, Jean-Pierre ; Durandy, Anne ; de Saint Basile, Geneviève ; Lemoine, Roxane ; Pachlopnik Schmid, Jana ; Nehme, Nadine ; Picard, Capucine ; Debré, Marianne ; Fischer, Alain ; Lim, Annick ; Legeai-Mallet, Laurence ; Nitschke, Patrick ; Debeurme, Franck

DNA polymerase ε (Polε) is a large, four-subunit polymerase that is conserved throughout the eukaryotes. Its primary function is to synthesize DNA at the leading strand during replication. It is also involved in a wide variety of fundamental cellular processes, including cell cycle progression and DNA repair/recombination. Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ε 1), encoding the catalytic subunit of Polε, caused facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”) in a large, consanguineous family. The mutation resulted in alternative splicing in the conserved region of intron 34, which strongly decreased protein expression of Polε1 and also to a lesser extent the Polε2 subunit. We observed impairment in proliferation and G1- to S-phase progression in patients’ T lymphocytes. Polε1 depletion also impaired G1- to S-phase progression in B lymphocytes, chondrocytes, and osteoblasts. Our results evidence the developmental impact of a Polε catalytic subunit deficiency in humans and its causal relationship with a newly recognized, inherited disorder.

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FILS Syndrome

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