当前位置： SCI文献检索 > JOURNAL OF CLINICAL IMMUNOLOGY期刊下所有文献 > A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis.

A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis.

Abstract：

:Familial Hemophagocytic Lymphohistiocytosis type 2 (FHL2) results from mutations in PRF1. We described two unrelated individuals who presented with FHL, in whom severely impaired NK cytotoxicity and decrease perforin expression was observed. DNA sequencing of PRF1 demonstrated that both were not only heterozygous for the p.54R > C/91A > V haplotype but also presented with the novel variant p.47G > V at the perforin protein. Perforin mRNA was found to be increased in a individual with that genotype. A carrier of the novel variant also demonstrated altered perforin mRNA and protein expression. Phylogenetic analysis and multiple alignments with perforin orthologous demonstrated a high level of conservation at Gly47. PolyPhen-2 and PROVEAN predicted p.47G > V to be "probably damaging" and "deleterious", respectively. A thermodynamic analysis showed that this variant was highly stabilizing, decreasing the protein internal energy. The ab initio perforin molecular modeling indicated that Gly47 is buried inside the hydrophobic core of the MACPF domain, which is crucial for the lytic pore formation and protein oligomerization. After the in silico induction of the p.47G > V mutation, Val47 increased the interactions with the surrounding amino acids due to its size and physical properties, avoiding a proper conformational change of the domain. To our knowledge, this is the first description supporting that p.47G > V is a pathogenic variant that in conjunction with p.54R > C/91A > V might result in the clinical phenotype of FHL2.

journal_name

J Clin Immunol

journal_title

Journal of clinical immunology

authors

Romero CA,Sánchez IP,Gutierrez-Hincapié S,Álvarez-Álvarez JA,Pereañez JA,Ochoa R,Muskus-López CE,Eraso RG,Echeverry C,Arango C,Restrepo JL,Trujillo-Vargas CM

doi

10.1007/s10875-015-0169-x

subject

Has Abstract

pub_date

2015-07-01 00:00:00

pages

501-11

issue

5

eissn

0271-9142

issn

1573-2592

journal_volume

35

pub_type

杂志文章

相关文献

JOURNAL OF CLINICAL IMMUNOLOGY文献大全
  • Augmentation of natural and antibody-dependent cell-mediated cytotoxicity by pure human leukocyte interferon.

    abstract：:Augmentation of the cytolytic activity of human natural killer cells and of antibody-dependent cell-mediated cytotoxicity has been attributed to human interferons. With the purification to homogeneity of human leukocyte interferon, it became possible to test directly whether pure interferon could increase the activity...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00922756

    authors： Herberman RB,Ortaldo JR,Rubinstein M,Pestka S

    更新日期：1981-07-01 00:00:00

  • Lymphocyte phenotype and function in the chronic fatigue syndrome.

    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

    authors： Straus SE,Fritz S,Dale JK,Gould B,Strober W

    更新日期：1993-01-01 00:00:00

  • Molecular mechanism of NLRP3 inflammasome activation.

    abstract：:The inflammasome is an intracellular multimolecular complex that controls caspase-1 activity in the innate immune system. NLRP3, a member of the NLR family of cytosolic pattern recognition receptors, along with the adaptor protein ASC, mediates caspase-1 activation via assembly of the inflammasome in response to vario...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章,评审

    doi：10.1007/s10875-010-9440-3

    authors： Jin C,Flavell RA

    更新日期：2010-09-01 00:00:00

  • CD4+ Th2 cell response cytokine production in bacterial meningitis.

    abstract：:There has been a growing body of evidence suggesting that CD4+ Th1/Th2 cell responses participate in pathologic and immunologic processes in infectious disease. Bacterial meningitis is a fatal disease of children and is associated with a spectrum of clinical syndromes. This study provides evidence of CD4+ enhanced int...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF01541324

    authors： Raziuddin S,el-Awad ME,Telmesani AW,Bilal NE,al-Janadi M

    更新日期：1995-11-01 00:00:00

  • Interleukin-6 -174 genotype, periodontal disease and adverse pregnancy outcomes: a pilot study.

    abstract：:This study was undertaken to investigate whether maternal periodontal disease and variant genotypes of IL-6 gene are associated with adverse pregnancy outcomes. A total of 145 pregnant women were recruited from St Mary's Hospital, Manchester, UK. Bleeding on probing (BOP) and pocket depth indices were recorded on all ...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-007-9162-3

    authors： Dashash M,Nugent J,Baker P,Tansinda D,Blinkhorn F

    更新日期：2008-05-01 00:00:00

  • Two patients with complete defects in interferon gamma receptor-dependent signaling.

    abstract：:Unusual susceptibility to mycobacterial infections can be caused by deleterious mutations in genes that encode the interferon-gamma receptor 1 chain. Such mutations hamper the activation of macrophages by a type 1 immune response and result in enhanced survival of intracellular pathogens. We here report two patients w...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-007-9097-8

    authors： Noordzij JG,Hartwig NG,Verreck FA,De Bruin-Versteeg S,De Boer T,Van Dissel JT,De Groot R,Ottenhoff TH,Van Dongen JJ

    更新日期：2007-09-01 00:00:00

  • Immunogenicity of human immunodeficiency virus (HIV) reverse transcriptase: detection of high levels of antibodies to HIV reverse transcriptase in sera of homosexual men.

    abstract：:Immunoglobulin isolated from sera of homosexual men infected with human immunodeficiency virus (HIV) inhibited the reverse transcriptase (RT) activity of HIV. The inhibitory activity was specifically directed against HIV RT, and not against other mammalian retrovirus RT, including human T-lymphotropic virus type I. Th...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00915727

    authors： Chatterjee R,Rinaldo CR Jr,Gupta P

    更新日期：1987-05-01 00:00:00

  • Effect of IL-2 therapy on CD8+ cell noncytotoxic anti-HIV response during primary HIV-1 infection.

    abstract：:Early treatment intervention during human immunodeficiency virus (HIV) infection is a strategy aimed to preserve and/or enhance the developing anti-HIV immune responses. We report the effect of highly active antiretroviral therapy (HAART) combined with intermittent subcutaneous doses of Interleukin 2 (IL-2) on CD8(+) ...

    journal_title：Journal of clinical immunology

    pub_type： 临床试验,杂志文章

    doi：10.1023/B:JOCI.0000019778.96564.26

    authors： Martinez-Mariño B,Ashlock BM,Shiboski S,Hecht FM,Levy JA

    更新日期：2004-03-01 00:00:00

  • Regulation and privilege in transplantation tolerance.

    abstract：BACKGROUND:There are now many ways of achieving transplantation tolerance in rodents that do not require stem cell chimerism. The best studied of these utilize short courses of antibody treatment aimed at blocking the co-receptors CD4 and CD8, and/or co-stimulatory molecules such as CD40L. Unlike tolerance through mixe...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-008-9249-5

    authors： Waldmann H,Adams E,Fairchild P,Cobbold S

    更新日期：2008-11-01 00:00:00

  • Dissociation among Ia antigen expression, accessory cell function, and antigen processing in two acute monoblastic leukemia lines.

    abstract：:To better understand the role of Ia antigen expression, accessory cell function, and antigen ingestion in antigen presentation and the initiation of T cell proliferation, we studied these events in two acute monoblastic leukemia (AMoL) lines. The cell lines were positive for surface Ia antigen; one stimulated prolifer...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00916572

    authors： Giller RH,Mori M,Hayward AR

    更新日期：1984-11-01 00:00:00

  • Immunological functions and phenotypes of peripheral blood lymphocytes from human T-cell leukemia virus-I carriers.

    abstract：:We studied immunological functions of peripheral blood lymphocytes (PBL) from human T-cell leukemia virus type I (HTLV-I)-seropositive healthy carriers in vitro. Proliferative responses of PBL to T-cell and B-cell mitogens such as concanavalin A (Con A), pokeweed mitogen (PWM), and Staphylococcus aureus Cowan I (SAC) ...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00918017

    authors： Tanaka Y,Oda S,Nagata K,Mori N,Sakamoto H,Eto S,Yamashita U

    更新日期：1989-11-01 00:00:00

  • Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

    abstract：:Live-attenuated vaccines (LAVs) can protect humans against 12 viral and three bacterial diseases. By definition, any clinical infection caused by a LAV that is sufficiently severe to require medical intervention attests to an inherited or acquired immunodeficiency that must be diagnosed or identified. Self-healing inf...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章,评审

    doi：10.1007/s10875-019-00642-3

    authors： Pöyhönen L,Bustamante J,Casanova JL,Jouanguy E,Zhang Q

    更新日期：2019-05-01 00:00:00

  • Complement activation is involved in renal damage in human antineutrophil cytoplasmic autoantibody associated pauci-immune vasculitis.

    abstract：OBJECTIVE:This study was to investigate the evidence for complement activation in renal biopsy specimens of patients with myeloperoxidase (MPO)-antineutrophil cytoplasmic autoantibody (ANCA)-associated pauci-immune vasculitis. METHODS:Renal biopsy specimens from seven patients with MPO-ANCA positive pauci-immune necro...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-008-9268-2

    authors： Xing GQ,Chen M,Liu G,Heeringa P,Zhang JJ,Zheng X,E J,Kallenberg CG,Zhao MH

    更新日期：2009-05-01 00:00:00

  • Antigen-specific expansion of TCR Vbeta3+ CD4+ T cells in the early stage of collagen-induced arthritis and its arthritogenic role in DBA/1J mice.

    abstract：:To investigate type II collagen (CII)-specific CD4+ T cell receptors involving in Collagen-induced arthritis (CIA) in DBA/1J mice as a model of rheumatoid arthritis in humans, TCR Vbeta usage in draining lymph nodes (dLNs) was assessed by flow cytometric analysis at 3, 5, and 8 weeks after bovine CII immunizations. In...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-006-9012-8

    authors： Lee JS,Cho ML,Jhun JY,Min SY,Ju JH,Yoon CH,Min JK,Park SH,Kim HY,Cho YG

    更新日期：2006-05-01 00:00:00

  • Natural autoantibody to galectin-9 in normal human sera.

    abstract：:Antibodies to certain self-antigens are detected in normal individuals as well as in patients with autoimmune diseases. Natural autoantibodies found in normal human sera are thought to act as an immune regulator, a functional controller of specific proteins, or the first-line defense against pathogenic microorganisms....

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1023/a:1020599526249

    authors： Suk K,Hwang DY,Lee MS

    更新日期：1999-05-01 00:00:00

  • Efficacy and safety of subcutaneous vivaglobin® replacement therapy in previously untreated patients with primary immunodeficiency: a prospective, multicenter study.

    abstract：:Treatment of primary immunodeficiency (PI) is typically initiated with intravenous immunoglobulin (IVIG) loading and then continued with IVIG or subcutaneous IgG (SCIG). This prospective, open-label, multicenter, 6-month study evaluated a new regimen of initiating IgG therapy with SCIG in 18 previously untreated patie...

    journal_title：Journal of clinical immunology

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1007/s10875-011-9588-5

    authors： Borte M,Quinti I,Soresina A,Fernández-Cruz E,Ritchie B,Schmidt DS,McCusker C

    更新日期：2011-12-01 00:00:00

  • Immune function in chronic active Epstein-Barr virus infection.

    abstract：:The spectrum of illness attributed to Epstein-Barr virus (EBV) includes patients with symptoms persisting for more than 1 year without any other obvious underlying disease. High titers of antibodies to EBV, either IgG antiviral capsid antigen or anti-early antigen, can be demonstrated. In this study, 13 patients diagn...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00915168

    authors： Kibler R,Lucas DO,Hicks MJ,Poulos BT,Jones JF

    更新日期：1985-01-01 00:00:00

  • A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome).

    abstract：:Prior to the advent of cardiac bypass, most children with congenital cardiac anomalies and chromosome 22q11.2 deletion syndrome died. With improved technology, there is now a wave of young adults with chromosome 22q11.2 deletion syndrome requiring clinical care. Fifteen young children and 20 adults with chromosome 22q...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-011-9569-8

    authors： Jawad AF,Prak EL,Boyer J,McDonald-McGinn DM,Zackai E,McDonald K,Sullivan KE

    更新日期：2011-12-01 00:00:00

  • IL-12 as well as IL-2 upregulates CCR5 expression on T cell receptor-triggered human CD4+ and CD8+ T cells.

    abstract：:The expression of chemokine receptors on leukocytes is related to their activation state. However, the exact mechanism underlying the induction of each chemokine receptor is poorly understood. Here, we investigated how CCR5, a chemokine receptor implicated in T cell trafficking and HIV infection, is induced in human T...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1023/a:1011059906777

    authors： Yang YF,Tomura M,Iwasaki M,Mukai T,Gao P,Ono S,Zou JP,Shearer GM,Fujiwara H,Hamaoka T

    更新日期：2001-03-01 00:00:00

  • A novel missense mutation in the nuclear factor-κB essential modulator (NEMO) gene resulting in impaired activation of the NF-κB pathway and a unique clinical phenotype presenting as MRSA subdural empyema.

    abstract：INTRODUCTION:We describe a previously unreported 437 T→G missense mutation producing a V146G substitution in the first coiled-coil (CC1) domain of nuclear factor-κB essential modulator (NEMO) in a 9-month-old boy with ectodermal dysplasia with immunodeficiency who presented with methicillin-resistant Staphylococcus aur...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-010-9445-y

    authors： Devora GA,Sun L,Chen Z,van Oers NS,Hanson EP,Orange JS,de la Morena MT

    更新日期：2010-11-01 00:00:00

  • T-cell activation and differentiation are regulated by TNF during murine DBA/2-->B6D2F1 intestinal graft-versus-host disease.

    abstract：:Administration of a tumor necrosis factor (TNF) inhibitor-encoding adenoviral vector decreases the severity of colonic inflammation in a DBA/2-->B6D2F1 murine model of colonic graft-versus-host disease (GVHD). The present studies evaluated the effect of TNF blockade on the splenic and colonic T-cell responses. cDNA en...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1023/a:1006676315093

    authors： Brown GR,Thiele DL

    更新日期：2000-09-01 00:00:00

  • Developmental, malignancy-related, and cross-species analysis of eosinophil, mast cell, and basophil siglec-8 expression.

    abstract：OBJECTIVE:The aim of this study is to determine when during hematopoiesis Siglec-8 gets expressed, whether it is expressed on hematologic malignancies, and if there are other non-human species that express Siglec-8. METHODS:Siglec-8 mRNA and cell surface expression was monitored during in vitro maturation of human eos...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-011-9589-4

    authors： Hudson SA,Herrmann H,Du J,Cox P,Haddad el-B,Butler B,Crocker PR,Ackerman SJ,Valent P,Bochner BS

    更新日期：2011-12-01 00:00:00

  • Significance of unconventional peripheral CD4+CD8dim T cell subsets.

    abstract：:Routine T cells phenotyping occasionally reveals a CD4+CD8dim T cell subset with an apparently homogeneous dot plot. The aim of this study was to elucidate their immunological significance from analysis of 31 healthy donors, 21 elderly and 220 immune deficient patients. CD4+CD8dim T cells expressed reduced levels of C...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-005-5257-x

    authors： Lambert C,Ibrahim M,Iobagiu C,Genin C

    更新日期：2005-09-01 00:00:00

  • Gain and loss of T cell subsets in old age--age-related reshaping of the T cell repertoire.

    abstract：:The immune system is affected by the aging process and undergoes significant age-related changes, termed immunosenescence. Different T cell subsets are affected by this process. Alterations within the bone marrow and thymus lead to a shift in the composition of the T cell repertoire from naïve to antigen-experienced T...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章,评审

    doi：10.1007/s10875-010-9499-x

    authors： Arnold CR,Wolf J,Brunner S,Herndler-Brandstetter D,Grubeck-Loebenstein B

    更新日期：2011-04-01 00:00:00

  • I kappa B alpha promoter polymorphisms in patients with systemic lupus erythematosus.

    abstract：:To investigate the associations of IkappaBalpha gene polymorphisms with the development and clinical manifestations of systemic lupus erythematosus (SLE), 110 patients with SLE and 120 unrelated healthy controls were enrolled in this study. The IkappaBalpha -881 A/G, -826 C/T, -550 A/T, -519 C/T, and -297 C/T polymorp...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-007-9156-1

    authors： Lin CH,Wang SC,Ou TT,Li RN,Tsai WC,Liu HW,Yen JH

    更新日期：2008-05-01 00:00:00

  • Resistance to exogenous TGF-β effects in patients with systemic lupus erythematosus.

    abstract：BACKGROUND:The mechanisms underlying the loss of self-tolerance in systemic lupus erythematosus (SLE) are incompletely deciphered. TGF-β plays a key role in self-tolerance demonstrated by the onset of a fatal autoimmune syndrome associated with lupus autoantibodies in mice lacking a functional TGF-β receptor. The prese...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-011-9531-9

    authors： Elbeldi-Ferchiou A,Ben Ahmed M,Smiti-Khanfir M,Houman MH,Abdeladhim M,Belhadj Hmida N,Cerf-Bensussan N,Louzir H

    更新日期：2011-08-01 00:00:00

  • Oral tolerance.

    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

    authors： Strober W,Kelsall B,Marth T

    更新日期：1998-01-01 00:00:00

  • Efficacy, safety and pharmacokinetics of a novel subcutaneous immunoglobulin, Evogam®, in primary immunodeficiency.

    abstract：:This phase III, open-label, multi-centre study investigated the efficacy, safety, pharmacokinetics and quality of life impact of Evogam(®), a new chromatographically fractionated 16% subcutaneous immunoglobulin, utilising a 1:1 dose transition ratio from previous immunoglobulin therapy. Thirty-five previously treated ...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s10875-011-9641-4

    authors： Empson MB,Tang ML,Pearce LK,Rozen L,Gold MS,Katelaris CH,Langton D,Smart J,Smith WB,Steele RH,Ziegler JB,Maher D

    更新日期：2012-10-01 00:00:00

  • Disseminated Cryptococcosis Due to Anti-Granulocyte-Macrophage Colony-Stimulating Factor Autoantibodies in the Absence of Pulmonary Alveolar Proteinosis.

    abstract：INTRODUCTION:Autoantibodies to granulocyte-macrophage colony-stimulating factor (GM-CSF) can cause acquired pulmonary alveolar proteinosis (PAP). Cases of acquired PAP susceptible to typical respiratory pathogens and opportunistic infections have been reported. Anti-GM-CSF autoantibodies have been reported in a few pat...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-016-0364-4

    authors： Kuo CY,Wang SY,Shih HP,Tu KH,Huang WC,Ding JY,Lin CH,Yeh CF,Ho MW,Chang SC,He CY,Chen HK,Ho CH,Lee CH,Chi CY,Ku CL

    更新日期：2017-02-01 00:00:00

  • Endogenously activated interleukin-4 differentiates disease progressors and non-progressors in tuberculosis susceptible families: a 2-year biomarkers follow-up study.

    abstract：OBJECTIVE:Dynamic cytokine profiles from endogenously activated T cells in transit from lymph node to the infected sites via the blood compartment after recent exposure to Mycobacterium tuberculosis may differentiate disease progressors from non-disease progressors in a BCG-vaccinated population. METHODS:Household con...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-011-9566-y

    authors： Hussain R,Talat N,Ansari A,Shahid F,Hasan Z,Dawood G

    更新日期：2011-10-01 00:00:00