Abstract:
PURPOSE:Poikiloderma with neutropenia (PN) is a genodermatosis currently described in 77 patients, all presenting with early-onset poikiloderma, neutropenia, and several additional signs. Biallelic loss-of-function mutations in USB1 gene are detected in all molecularly tested patients but genotype-phenotype correlation remains elusive. Cancer predisposition is recognized among PN features and pathogenic variants found in patients who developed early in life myelodysplasia (n = 12), acute myeloid leukemia (n = 2), and squamous cell carcinoma (n = 2) should be kept into account in management and follow-up of novel patients. This will hopefully allow achieving data clustered on specific mutations relevant to oncological surveillance of the carrier patients. METHODS:We describe the clinical features of three unreported PN patients and characterize their USB1 pathogenic variants by transcript analysis to get insights into the effect on the overall phenotype and disease evolution. RESULTS:A Turkish boy is homozygous for the c.531delA deletion, a recurrent mutation in Turkey; an adult Italian male is compound heterozygous for two nonsense mutations, c.243G>A and c.541C>T, while an Italian boy is homozygous for the splicing c.683_693+1del variant. The identified mutations have already been reported in PN patients who developed hematologic or skin cancer. Aberrant mRNAs of all four mutated alleles could be identified confirming that transcripts of USB1 main isoform either carrying stop codons or mis-spliced may at least partially escape nonsense-mediated decay. CONCLUSIONS:Our study addresses the need of gathering insights on genotype-phenotype correlations in newly described PN patients, by transcript analysis and information on disease evolution of reported patients with the same pathogenic variants.
journal_name
J Clin Immunoljournal_title
Journal of clinical immunologyauthors
Colombo EA,Elcioglu NH,Graziano C,Farinelli P,Di Fede E,Neri I,Facchini E,Greco M,Gervasini C,Larizza Ldoi
10.1007/s10875-018-0508-9subject
Has Abstractpub_date
2018-05-01 00:00:00pages
494-502issue
4eissn
0271-9142issn
1573-2592pii
10.1007/s10875-018-0508-9journal_volume
38pub_type
杂志文章abstract::Sixty patients (16 children, 44 adults) participated in the study aiming at evaluating: (i) IgG levels when switching patients from intravenous IgG (IVIG) infusions in hospital to subcutaneous (SCIG) self-infusions at home using the same cumulative monthly dose, (ii) protections against infections, and (iii) safety of...
journal_title:Journal of clinical immunology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s10875-006-9002-x
更新日期:2006-03-01 00:00:00
abstract:BACKGROUND:Primary immunodeficiency disorders (PID) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections and increased susceptibility to malignancies, lymphoproliferative and autoimmune conditions. National registries of PID disorders provide epidemiological data and increase t...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,多中心研究
doi:10.1007/s10875-014-0001-z
更新日期:2014-05-01 00:00:00
abstract::The original version of this article unfortunately contained mistake in the following sentence in the Abstract. ...
journal_title:Journal of clinical immunology
pub_type: 已发布勘误
doi:10.1007/s10875-019-00653-0
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to assess the diagnostic delay in pediatric patients with primary immunodeficiencies (PID) at a tertiary care hospital in Peru. METHODS:A descriptive study was carried out in which patients from a third-level referral center in Peru were included. Those without a specific diagnosis o...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-017-0398-2
更新日期:2017-05-01 00:00:00
abstract:PURPOSE:This study aimed to characterize the clinical phenotype, genetic basis, and consequent immunological phenotype of a boy with severe infantile-onset colitis and eosinophilic gastrointestinal disease, and no evidence of recurrent or severe infections. METHODS:Trio whole-exome sequencing (WES) was utilized for pa...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-019-00631-6
更新日期:2019-05-01 00:00:00
abstract::Fas-associated death domain (FADD) is an adapter protein that is recruited to the death-inducing signaling complex (DISC) during signaling via death receptors. FADD is a common conduit in both CD95-mediated and TNF-R-mediated apoptosis. In aging, T cells show increased susceptibility to death receptor-induced apoptosi...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/B:JOCI.0000018059.56924.99
更新日期:2004-01-01 00:00:00
abstract::Intravenous immunoglobin (i.v.IG) is generated from the plasma of more than 10,000 healthy subjects. Originally i.v.IG was employed to supplement the missing Igs in subjects with immune-deficiencies. Later on it was given successfully to patients with autoimmune conditions, in some of which the benefits were confirmed...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1023/b:joci.0000019809.55787.ec
更新日期:2004-03-01 00:00:00
abstract::Common variable immunodeficiency (CVID) is a heterogeneous group of disorders, characterized by hypogammaglobulinemia and increased susceptibility to recurrent pyogenic infections, autoimmunity, and malignancies. Twenty-five cases with CVID (18 male and 7 female) and 25 healthy volunteers were investigate in this stud...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-007-9135-6
更新日期:2008-01-01 00:00:00
abstract::The biological differences between lymphocytes separated from thymoma patients with myasthenia gravis (MG) and those separated from thymoma patients without MG was examined. We investigated whether lymphocytes in thymoma (Th-L) of patients with and without MG could react to interleukin-2 (IL-2) to develop cytolytic ac...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF01541224
更新日期:1996-07-01 00:00:00
abstract::We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
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更新日期:2020-01-01 00:00:00
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00915378
更新日期:1986-09-01 00:00:00
abstract::Common variable immune deficiency (CVID) B cells have impaired responses to TLR7 and TLR9 agonists including poor cell proliferation, loss of cytokine production, and failure to produce IgG or IgA. We show that TLR7- or 9-activated B cells from CVID subjects with >0.5% peripheral isotype-switched CD27(+) B cells (grou...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-011-9602-y
更新日期:2012-02-01 00:00:00
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journal_title:Journal of clinical immunology
pub_type: 临床试验,杂志文章
doi:10.1007/s10875-004-6237-2
更新日期:2004-11-01 00:00:00
abstract::To explore the role of phospholipid fatty acids in binding of antiphospholipid antibody (aPL) in ELISA, we tested aPL binding to phospholipids containing fatty acids of varying chain length and degree of saturation using direct ELISA and inhibition methods. Polyclonal IgG and IgM human aPL's bind to C18:1 phosphatidyl...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00917913
更新日期:1990-05-01 00:00:00
abstract::Review of the limited data currently available on the ratios of helper (OKT4+) to suppressor (OKT8+) T cells in autoimmune liver disease (primary biliary cirrhosis and chronic active lupoid hepatitis) and virally induced liver disease indicates that this OKT4+:OKT8+ ratio is elevated in autoimmune liver disease manife...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:
更新日期:1982-07-01 00:00:00
abstract::Fever is frequently observed in cancer patients treated with high-dose recombinant human interleukin-2 (rIL-2). The preincubation of rIL-2 with polymyxin B, an antibiotic that inhibits the biologic effects of endotoxins, did not diminish the pyrogenicity of IL-2 in New Zealand rabbits, indicating that IL-2-induced fev...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00916947
更新日期:1988-11-01 00:00:00
abstract:PURPOSE:The aim of the present study was to evaluate whether the anti-Rheumatoid arthritis (RA) effect of curcumin is associated with the regulation of B cell-activating factor belonging to the TNF family (BAFF) production. METHODS:Collagen-induced arthritis (CIA) was induced in DBA/1 J mice by immunization with bovin...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-012-9839-0
更新日期:2013-04-01 00:00:00
abstract::The autoantigen of celiac disease, transglutaminase 2 (TG2), adopts an open conformation during enzymatic activation. We studied diagnostic accuracy of serodiagnostic assays using TG2 in its open and closed conformation as antigens in patients with diagnostic difficulties. The open TG2 antibody (TG2ab) test identified...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-011-9514-x
更新日期:2011-06-01 00:00:00
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journal_title:Journal of clinical immunology
pub_type: 评论,信件
doi:10.1007/s10875-012-9719-7
更新日期:2012-12-01 00:00:00
abstract:PURPOSE:To elucidate the relative role of the immune system and intestinal epithelium in the ethiopatogenesis of Celiac disease (CD). METHODS:A patient with childhood CD who underwent allogeneic bone marrow transplantation (BMT) for chronic myelogenous leukemia was followed for 5 years after resumption of gluten conta...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-013-9943-9
更新日期:2013-11-01 00:00:00
abstract::Five common variable immunodeficiency (CVI) patients were analyzed for expression of immunoglobulin (Ig) genes. In the pokeweed mitogen (PWM)-induced Ig-production assay, the combination of T and B cells showed that all patients' T cells had normal helper functions and all patients' B cells had profound defects. The d...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00918184
更新日期:1991-09-01 00:00:00
abstract::Data collection for the national registry for patients with primary immunodeficiency disorders in the Republic of Ireland commenced in 1996. One hundred and fifteen cases of primary immunodeficiency diseases were registered between December 1996 and February 2003. The most frequent primary immunodeficiency disorders w...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-005-0360-9
更新日期:2005-01-01 00:00:00
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journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/a:1019974005134
更新日期:2002-09-01 00:00:00
abstract::The concentrations of serum IgG and IgM antibodies to polyclonal IgA (IgAp), IgA1, and IgA2 were determined by enzyme immunoassay in 31 patients with IgA nephropathy and 30 healthy controls. Patients with IgA nephropathy had significantly raised concentrations of serum IgA compared to controls (Mann-Whitney U test, P ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00918662
更新日期:1989-07-01 00:00:00
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journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1007/s10875-014-0014-7
更新日期:2014-04-01 00:00:00
abstract::Immunosuppression-associated lymphoproliferative disorders can be related to primary as well as acquired immune disorders. Interferon gamma receptor (IFN-γR) deficiency is a rare primary immune disorder, characterized by increased susceptibility to mycobacterial infections. Here we report the first case of an Epstein ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-013-9907-0
更新日期:2013-08-01 00:00:00
abstract::Lymphocytes of 18 patients meeting the Centers for Disease Control (CDC) case definition for the chronic fatigue syndrome (CFS), 10 similar, chronically fatigued patients not fully conforming to the CDC case definition, and 17 matched, healthy individuals were studied to determine the presence of abnormalities of peri...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00920633
更新日期:1993-01-01 00:00:00
abstract::Oral tolerance is the immunologic mechanism by which the mucosal immune system maintains unresponsiveness to the myriad of antigens in the mucosal environment which might otherwise induce untoward immune responses. Recent studies have shown that it is mediated by several distinct, yet interacting mechanisms including ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1023/a:1023222003039
更新日期:1998-01-01 00:00:00
abstract::The concentrations of seven immunoglobulin isotypes (IgA, IgE, IgM, IgG1, IgG2, IgG3, and IgG4) were measured in the sera of 207 Finnish blood donors, and they were allotyped with anti-Gm antibodies: anti-f, anti-a, anti-x, and anti-n. The above population could be divided into 12 phenotypes, and significant differenc...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00918793
更新日期:1991-01-01 00:00:00
abstract::The immune response of 56 colorectal cancer patients to a single infusion of 1 mg of radiolabeled (111In) mouse B72.3-GYK-DTPA immunoconjugate was examined using a double-antigen radiometric assay system. The incidence of antibody response was 48% to polyclonal mouse IgG, 71% to mouse B72.3, and 62% to chimeric B72.3....
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00918141
更新日期:1992-03-01 00:00:00