当前位置： SCI文献检索 > JOURNAL OF CLINICAL IMMUNOLOGY期刊下所有文献 > Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.

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 discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies. The application of next-generation sequencing continues to expedite the rapid identification of novel gene defects, rare or common; broaden the immunological and clinical phenotypes of conditions arising from known gene defects and even known variants; and implement gene-specific therapies. These advances are contributing to greater understanding of the molecular, cellular, and immunological mechanisms of disease, thereby enhancing immunological knowledge while improving the management of patients and their families. This report serves as a valuable resource for the molecular diagnosis of individuals with heritable immunological disorders and also for the scientific dissection of cellular and molecular mechanisms underlying inborn errors of immunity and related human diseases.

journal_name

J Clin Immunol

journal_title

Journal of clinical immunology

authors

Tangye SG,Al-Herz W,Bousfiha A,Chatila T,Cunningham-Rundles C,Etzioni A,Franco JL,Holland SM,Klein C,Morio T,Ochs HD,Oksenhendler E,Picard C,Puck J,Torgerson TR,Casanova JL,Sullivan KE

doi

10.1007/s10875-019-00737-x

subject

Has Abstract

pub_date

2020-01-01 00:00:00

pages

24-64

issue

1

eissn

0271-9142

issn

1573-2592

pii

10.1007/s10875-019-00737-x

journal_volume

40

pub_type

杂志文章

相关文献

JOURNAL OF CLINICAL IMMUNOLOGY文献大全
  • Health-Related Quality of Life and Health Resource Utilization in Patients with Primary Immunodeficiency Disease Prior to and Following 12 Months of Immunoglobulin G Treatment.

    abstract：PURPOSE:Health-related quality of life (HRQOL) has not been examined in patients with predominant antibody deficiency both pre- and post-immunoglobulin G (IgG) treatment initiation. HRQOL and health resource utilization (HRU) were assessed in newly diagnosed patients with primary immunodeficiency disease (PIDD) pre- an...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-016-0279-0

    authors： Routes J,Costa-Carvalho BT,Grimbacher B,Paris K,Ochs HD,Filipovich A,Hintermeyer M,de Melo KM,Workman S,Ito D,Ye X,Bonnet P,Li-McLeod J

    更新日期：2016-07-01 00:00:00

  • Primary immunodeficiency diseases in Latin America: first report from eight countries participating in the LAGID. Latin American Group for Primary Immunodeficiency Diseases.

    abstract：:The Latin American Group for Primary Immunodeficiencies, formed in 1993, presently includes 12 countries. One goal was to study the frequency of primary immunodeficiencies in various regions of the American continent and to enhance knowledge about these diseases among primary-care physicians, as well as allergist-immu...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1023/a:1023255102170

    authors： Zelazko M,Carneiro-Sampaio M,Cornejo de Luigi M,Garcia de Olarte D,Porras Madrigal O,Berrón Perez R,Cabello A,Rostan MV,Sorensen RU

    更新日期：1998-03-01 00:00:00

  • Monitoring of CD4+ and CD8+ T-cell responses after dendritic cell-based immunotherapy using CFSE dye dilution analysis.

    abstract：:CFSE dye dilution analysis and [3H] thymidine incorporation were used side by side to assess proliferative responses of peripheral blood mononuclear cells (PBMCs) after vaccination of renal cell carcinoma patients (n=6) with antigen-loaded dendritic cells. Immune responses against the control antigen keyhole limpet he...

    journal_title：Journal of clinical immunology

    pub_type： 临床试验,杂志文章

    doi：10.1007/s10875-004-6237-2

    authors： Putz T,Ramoner R,Gander H,Rahm A,Bartsch G,Höltl L,Thurnher M

    更新日期：2004-11-01 00:00:00

  • 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

  • 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

  • Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.

    abstract：PURPOSE:DNA Ligase 4 (LIG4) is a key factor in the non-homologous end-joining (NHEJ) DNA double-strand break repair pathway needed for V(D)J recombination and the generation of the T cell receptor and immunoglobulin molecules. Defects in LIG4 result in a variable syndrome of growth retardation, pancytopenia, combined i...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-016-0266-5

    authors： Felgentreff K,Baxi SN,Lee YN,Dobbs K,Henderson LA,Csomos K,Tsitsikov EN,Armanios M,Walter JE,Notarangelo LD

    更新日期：2016-05-01 00:00:00

  • Platelet-associated IgG in hepatitis and cirrhosis.

    abstract：:Increasing evidence is accumulating which indicates that immunological abnormalities contribute to the development of liver disease and its signs and symptoms. Platelet-associated IgG (PAIgG) levels were quantified in 42 patients with biopsy-proven liver disease of various etiologies to determine the relationship of t...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00915043

    authors： Graber D,Giuliani D,Leevy CM,Morse BS

    更新日期：1984-03-01 00:00:00

  • TH1/TH2 functional imbalance after acute myocardial infarction: coronary arterial inflammation or myocardial inflammation.

    abstract：OBJECTIVES:The study clarified whether the T-helper (Th)1/Th2 imbalance existed only in coronary arterial inflammation or in both coronary arterial inflammation and myocardial inflammation and explored the significance of the imbalance of Th1/Th2 function after acute myocardial infarction (AMI). BACKGROUND:There are t...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-005-4088-0

    authors： Cheng X,Liao YH,Ge H,Li B,Zhang J,Yuan J,Wang M,Liu Y,Guo Z,Chen J,Zhang J,Zhang L

    更新日期：2005-05-01 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

  • NK 1.1+ T cell: a two-faced lymphocyte in immune modulation of the IL-4/IFN-gamma paradigm.

    abstract：:T lymphocytes expressing NK1.1 marker (NK1.1+) have been suggested as being important in peripheral immune modulation. Alteration of the balance between Th1 proinflammatory and Th2 anti-inflammatory cytokine-producing cells can ameliorate immune-mediated disorders. The aim of the study was to determine the role of NK1...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1023/a:1019974005134

    authors： Trop S,Ilan Y

    更新日期：2002-09-01 00:00:00

  • Bone density and fractures in autosomal dominant hyper IgE syndrome.

    abstract：PURPOSE:Autosomal Dominant Hyper IgE Recurrent Infection Syndrome (AD-HIES) is caused by mutations in STAT3 and characterized by eczema, recurrent bacterial infections, and skeletal and connective tissue abnormalities. To further understand the minimal trauma fractures of AD-HIES, we examined bone mineral density (BMD)...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-013-9982-2

    authors： Sowerwine KJ,Shaw PA,Gu W,Ling JC,Collins MT,Darnell DN,Anderson VL,Davis J,Hsu A,Welch P,Puck JM,Holland SM,Freeman AF

    更新日期：2014-02-01 00:00:00

  • Toll-like receptor expression pattern: clinical application.

    abstract：:We read with interest the recent paper in the JoCI, entitled 'Study of the expression of Toll-Like Receptors in Different Histological Types of Colorectal Polyps and Their Relationship with Colorectal Cancer' by Eiró et al. TLR7 and 9 expression is altered in CRC vs. normal control; which is proposed to be correlated ...

    journal_title：Journal of clinical immunology

    pub_type： 评论,信件

    doi：10.1007/s10875-012-9719-7

    authors： Moossavi S,Rezaei N

    更新日期：2012-12-01 00:00:00

  • IgG4 production against adalimumab during long term treatment of RA patients.

    abstract：PURPOSE:A substantial part of rheumatoid arthritis (RA) patients is chronically treated with adalimumab. Some of these patients produce antibodies against adalimumab, which correlate with lower serum drug levels and reduced clinical response. Long term exposure to antigens may result in antigen specific IgG4 production...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-012-9705-0

    authors： van Schouwenburg PA,Krieckaert CL,Nurmohamed M,Hart M,Rispens T,Aarden L,Wouters D,Wolbink GJ

    更新日期：2012-10-01 00:00:00

  • The presence of anti-carcinoembryonic antigen (CEA) antibodies in the sera of patients with gastrointestinal malignancies.

    abstract：:Using an enzyme-linked immunoassay we tested the sera of 71 patients with digestive system cancer, 35 patients with various nonmalignant disorders, and 28 normal individuals for anti-CEA activity. Antibodies were found in the sera of 51% of the patients. Most of the patients positive for the antibodies (70%) had no ev...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF01540984

    authors： Konstadoulakis MM,Syrigos KN,Albanopoulos C,Mayers G,Golematis B

    更新日期：1994-09-01 00:00:00

  • Increased serum levels of soluble CD30 in patients with common variable immunodeficiency and its clinical implications.

    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

    authors： Rezaei N,Haji-Molla-Hoseini M,Aghamohammadi A,Pourfathollah AA,Moghtadaie M,Pourpak Z

    更新日期：2008-01-01 00:00:00

  • Secretory antibodies in IgA-deficient and immunosuppressed individuals.

    abstract：:Total levels of IgM and secretory IgM as well as specific antibodies to poliovirus type I antigen, Escherichia coli O antigens, and beta-lactoglobulin were measured in unstimulated and stimulated saliva as well as nasal secretion using an enzyme-linked immunosorbent assay (ELISA). The levels of these antibodies in IgA...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00917328

    authors： Mellander L,Björkander J,Carlsson B,Hanson LA

    更新日期：1986-07-01 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

  • Antiidiotypic response against murine monoclonal antibodies reactive with tumor-associated antigen TAG-72.

    abstract：:The immune response of 42 gastrointestinal and ovarian cancer patients at 1 month after exposure to murine monoclonal antibodies (B72.3 and CC49) reactive with the tumor-associated antigen TAG-72 was studied. The incidence of human anti-mouse antibody response was 89% to B72.3 and 70% to CC49. To evaluate the antiidio...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1023/a:1027396714623

    authors： Blanco I,Kawatsu R,Harrison K,Leichner P,Augustine S,Baranowska-Kortylewicz J,Tempero M,Colcher D

    更新日期：1997-01-01 00:00:00

  • Alterations in cytotoxic and phenotypic subsets of natural killer cells in acquired immune deficiency syndrome (AIDS).

    abstract：:Testing of cytotoxic function using a panel of natural killer (NK)-sensitive target cells, including a unique herpes simplex virus-infected Raji-cell target, was performed in conjunction with phenotypic cell analysis by dual-color flow cytometry to characterize the NK system. Subjects included in the study were at ris...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00915420

    authors： Plaeger-Marshall S,Spina CA,Giorgi JV,Mitsuyasu R,Wolfe P,Gottlieb M,Beall G

    更新日期：1987-01-01 00:00:00

  • Evaluation of the reactivity of sera from patients with systemic lupus erythematosus against the human MCP1.

    abstract：:This study evaluates metaphase chromosome protein 1 (MCP1), a nuclear antigen, as a diagnostic marker for systemic lupus erythematosus (SLE). Reactivity of sera from 114 Portuguese patients with autoimmune rheumatic disease or from healthy blood donors (HBD), against MCP1, produced in bacteria (bact-MCP1) or in its na...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-012-9665-4

    authors： Bronze-da-Rocha E,Nóvoa A,Teixeira N,Vasconcelos CS,Cerveira C,Castro e Melo J,Carvalho MC

    更新日期：2012-08-01 00:00:00

  • Membrane IgD-positive B cells of "low-IgD serum phenotype" individuals fail to secrete IgD and fail to shift to preferential lambda light-chain expression in vitro.

    abstract：:IgD production by short-term human peripheral blood mononuclear cell (PBM) cultures was studied to establish the in vitro correlates of low serum IgD expression. Cells of persons with less than 3 micrograms/ml IgD in the serum, referred to as the low-serum IgD phenotype (LISP), were analyzed. Advantage was taken of re...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00916005

    authors： Litwin SD,Zehr BD

    更新日期：1987-03-01 00:00:00

  • Allotype-associated differences in concentrations of human IgG subclasses.

    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

    authors： Sarvas H,Rautonen N,Mäkelä O

    更新日期：1991-01-01 00:00:00

  • Post-transplantation B cell function in different molecular types of SCID.

    abstract：PURPOSE:Severe combined immunodeficiency (SCID) is a syndrome of diverse genetic cause characterized by profound deficiencies of T, B and sometimes NK cell function. Non-ablative HLA-identical or rigorously T cell-depleted haploidentical parental bone marrow transplantation (BMT) results in thymus-dependent genetically...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-012-9797-6

    authors： Buckley RH,Win CM,Moser BK,Parrott RE,Sajaroff E,Sarzotti-Kelsoe M

    更新日期：2013-01-01 00:00:00

  • Ethnic differences in DNA methyltransferases expression in patients with systemic lupus erythematosus.

    abstract：PURPOSE:Systemic lupus erythematous (SLE) is a systemic autoimmune inflammatory disease with both genetic and epigenetic etiologies. Evidence suggests that deregulation of specific genes through epigenetic mechanisms may be a contributing factor to SLE pathology. There is increasing evidence that DNA methyltransferase ...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-012-9803-z

    authors： Wiley KL,Treadwell E,Manigaba K,Word B,Lyn-Cook BD

    更新日期：2013-02-01 00:00:00

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

    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

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

    更新日期：2019-07-01 00:00:00

  • Modulation of lupus phenotype by adiponectin deficiency in autoimmune mouse models.

    abstract：:Adiponectin is an adipocyte-derived cytokine with anti-inflammatory properties. Paradoxically, circulating adiponectin levels are increased in a number of inflammatory diseases. Thus, we sought to define the role of adiponectin deficiency in mouse models of autoimmunity. Adiponectin-deficient mice on a C57BL/6 backgro...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-010-9486-2

    authors： Parker J,Menn-Josephy H,Laskow B,Takemura Y,Aprahamian T

    更新日期：2011-04-01 00:00:00

  • Analysis of somatic hypermutation and antigenic selection in the clonal B cell in immunoglobulin light chain amyloidosis (AL).

    abstract：:Light chain amyloidosis (AL) is a protein folding disorder with an underlying B cell neoplasia where the monoclonal immunoglobulin light chains (LCs) produced from insoluble amyloid fibrils. The deposition of these fibrillar aggregates in vital organs causes severe organ dysfunction over time and is associated with hi...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1023/B:JOCI.0000029113.68758.9f

    authors： Abraham RS,Geyer SM,Ramírez-Alvarado M,Price-Troska TL,Gertz MA,Fonseca R

    更新日期：2004-07-01 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

  • Patterns of antibody reactivity to selected human immunodeficiency virus type 1 (HIV-1) gp160 epitopes infected individuals grouped according to CD4+ cell levels.

    abstract：:We examined sera from 160 HIV-infected individuals for antibodies reactive to HIV-1 gp160 epitopes defined by seven synthetic peptides. Seropositive individuals were placed into three groups based upon levels of circulating CD4+ cells. These groups consisted of individuals with (1) more than 400 CD4+ cells, (2) 200-40...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00918790

    authors： Warren RQ,Wolf H,Zajac RA,Boswell RN,Kanda P,Kennedy RC

    更新日期：1991-01-01 00:00:00

  • Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry.

    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

    authors： Aghamohammadi A,Mohammadinejad P,Abolhassani H,Mirminachi B,Movahedi M,Gharagozlou M,Parvaneh N,Zeiaee V,Mirsaeed-Ghazi B,Chavoushzadeh Z,Mahdaviani A,Mansouri M,Yousefzadegan S,Sharifi B,Zandieh F,Hedayat E,Nadjafi A,S

    更新日期：2014-05-01 00:00:00