当前位置： SCI文献检索 > JOURNAL OF CLINICAL IMMUNOLOGY期刊下所有文献 > DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.

Abstract：

:Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and optimal therapeutic management have not yet been clearly defined. In an international retrospective survey of patients with DOCK8 mutations, focused on clinical presentation and therapeutic measures, a total of 136 patients with a median follow-up of 11.3 years (1.3-47.7) spanning 1693 patient years, were enrolled. Eczema, recurrent respiratory tract infections, allergies, abscesses, viral infections and mucocutaneous candidiasis were the most frequent clinical manifestations. Overall survival probability in this cohort [censored for hematopoietic stem cell transplantation (HSCT)] was 87 % at 10, 47 % at 20, and 33 % at 30 years of age, respectively. Event free survival was 44, 18 and 4 % at the same time points if events were defined as death, life-threatening infections, malignancy or cerebral complications such as CNS vasculitis or stroke. Malignancy was diagnosed in 23/136 (17 %) patients (11 hematological and 9 epithelial cancers, 5 other malignancies) at a median age of 12 years. Eight of these patients died from cancer. Severe, life-threatening infections were observed in 79/136 (58 %); severe non-infectious cerebral events occurred in 14/136 (10 %). Therapeutic measures included antiviral and antibacterial prophylaxis, immunoglobulin replacement and HSCT. This study provides a comprehensive evaluation of the clinical phenotype of DOCK8 deficiency in the largest cohort reported so far and demonstrates the severity of the disease with relatively poor prognosis. Early HSCT should be strongly considered as a potential curative measure.

journal_name

J Clin Immunol

journal_title

Journal of clinical immunology

authors

Aydin SE,Kilic SS,Aytekin C,Kumar A,Porras O,Kainulainen L,Kostyuchenko L,Genel F,Kütükcüler N,Karaca N,Gonzalez-Granado L,Abbott J,Al-Zahrani D,Rezaei N,Baz Z,Thiel J,Ehl S,Marodi L,Orange JS,Sawalle-Belohradsky J

doi

10.1007/s10875-014-0126-0

subject

Has Abstract

pub_date

2015-02-01 00:00:00

pages

189-98

issue

2

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
  • Interleukin 4 inhibits polyclonal immunoglobulin secretion and cytokine production by peripheral blood mononuclear cells from rheumatoid arthritis patients.

    abstract：:Rheumatoid arthritis (RA) is associated with T- and B-cell dysfunction. Immunoglobulin (Ig) production is under the control of T cells and their derived cytokines such as interleukin 2 (IL-2) and IL-4. Herein we studied the regulation of the production of immunoglobulins and cytokines by peripheral blood mononuclear c...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00918271

    authors： Briolay J,Dechanet J,Blanchard D,Banchereau J,Miossec P

    更新日期：1992-01-01 00:00:00

  • Synergistic platelet activation by aggregates of IgG and the phospholipid platelet-activating factor 1-O-alkyl-2-acetyl-SN-glycero-3-phosphorylcholine.

    abstract：:Immune complexes and 1-O-alkyl-2-acetyl-SN-glycero-3-phosphorylcholine (AGEPC) are potent platelet-activating factors which interact with distinct receptors on human platelets. The mechanisms of platelet activation by these two stimuli were investigated by examining the effects of AGEPC on human platelets which had be...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00915365

    authors： Valone FH

    更新日期：1986-01-01 00:00:00

  • Early systemic sclerosis: serum profiling of factors involved in endothelial, T-cell, and fibroblast interplay is marked by elevated interleukin-33 levels.

    abstract：PURPOSE:To assess the serum profile of factors involved in endothelial, T-cell, and fibroblast interplay in patients with Raynaud's phenomenon (RP) associated with nailfold vodeocapillaroscopy (NVC) scleroderma findings and/or systemic sclerosis (SSc) marker autoantibodies, recently labeled as early SSc patients. METH...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-014-0037-0

    authors： Vettori S,Cuomo G,Iudici M,D'Abrosca V,Giacco V,Barra G,De Palma R,Valentini G

    更新日期：2014-08-01 00:00:00

  • Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.

    abstract：BACKGROUND:Chronic granulomatous disease (CGD) is characterized by mutation in any one of the five genes coding NADPH oxidase components that leads to functional abnormality preventing the killing of phagocytosed microbes by affecting the progression of a respiratory burst. CGD patients have an increased susceptibility...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-018-0567-y

    authors： Kulkarni M,Hule G,de Boer M,van Leeuwen K,Kambli P,Aluri J,Gupta M,Dalvi A,Mhatre S,Taur P,Desai M,Madkaikar M

    更新日期：2018-11-01 00:00:00

  • Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome.

    abstract：BACKGROUND:Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disease, with an incidence of 4/1,000,000 live male births. In China, an estimated number of 35 babies with WAS are born each year, but likely many remain undiagnosed. OBJECTIVES:The objectives of study were to review the clinical and molecul...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-009-9285-9

    authors： Lee PP,Chen TX,Jiang LP,Chen J,Chan KW,Lee TL,Ho MH,Nong SH,Yang Y,Fang YJ,Li Q,Wang XC,Yang XQ,Lau YL

    更新日期：2009-07-01 00:00:00

  • A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.

    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

    authors： Kurolap A,Eshach Adiv O,Konnikova L,Werner L,Gonzaga-Jauregui C,Steinberg M,Mitsialis V,Mory A,Nunberg MY,Wall S,Shaoul R,Overton JD,Regeneron Genetics Center.,Shuldiner AR,Zohar Y,Paperna T,Snapper SB,Shouval DS,Bari

    更新日期：2019-05-01 00:00:00

  • Cervical concentrations of interleukin-10 and interleukin-12 do not correlate with plasma levels.

    abstract：:Human papillomavirus (HPV) infects the transformation zone of the cervix and is the primary cause of cervical cancer. The infection is localized to the cervix and mucosal immunity is likely to be an important determinant for viral clearance. Previous studies of immunity to HPV have measured immune markers in the blood...

    journal_title：Journal of clinical immunology

    pub_type： 临床试验,杂志文章,多中心研究,随机对照试验

    doi：10.1023/a:1014252402630

    authors： Castle PE,Hildesheim A,Bowman FP,Strickler HD,Walker JL,Pustilnik T,Edwards RP,Crowley-Nowick PA

    更新日期：2002-01-01 00:00:00

  • Vaccination with rabies to study the humoral and cellular immune response to a T-cell dependent neoantigen in man.

    abstract：:We investigated the humoral (antigen-specific immunoglobulin isotypes, IgG subclasses, and avidity maturation) and cellular (antigen-specific in vitro proliferation) immune response in 18 healthy adult volunteers, following a primary and a single booster vaccination with the T-cell dependent neoantigen rabies administ...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1023/b:joci.0000010429.36461.6b

    authors： Brinkman DM,Jol-van der Zijde CM,ten Dam MM,Vossen JM,Osterhaus AD,Kroon FP,van Tol MJ

    更新日期：2003-11-01 00:00:00

  • Influence of prostaglandin E2 and indomethacin on interferon-gamma production by cultured peripheral blood leukocytes of multiple sclerosis patients and healthy donors.

    abstract：:The addition of indomethacin to concanavalin A (Con A)-induced cultures of human peripheral blood leukocytes (PBL) caused an increase in interferon response, regardless of whether the PBLs were derived from multiple sclerosis (MS) patients or from control donors. Specifically the response rates increased from 71 to 10...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00915007

    authors： Vervliet G,Deckmyn H,Carton H,Billiau A

    更新日期：1985-03-01 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

  • Studies on the production of IL-15 in HIV-infected/AIDS patients.

    abstract：:IL-15 is essential for the development and differentiation of NK cells. It selectively induces proliferation of CD8+ memory T lymphocytes. Despite its importance in both innate and adaptive immune responses, little is known about its production in HIV-infected persons. We report here that IL-15 levels are significantl...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1023/a:1022568626500

    authors： Ahmad R,Sindhu ST,Toma E,Morisset R,Ahmad A

    更新日期：2003-03-01 00:00:00

  • Characterization of canine dendritic cells in healthy, atopic, and non-allergic inflamed skin.

    abstract：:Atopic dermatitis in humans and dogs is a chronic relapsing allergic skin disease. Dogs show a spontaneous disease similar to the human counterpart and represent a model to improve our understanding of the immunological mechanisms, the pathogenesis of the disease, and new therapy development. The aim of the study was ...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-010-9447-9

    authors： Ricklin ME,Roosje P,Summerfield A

    更新日期：2010-11-01 00:00:00

  • Early lymphocyte transformation abnormalities in human immunodeficiency virus infection.

    abstract：:Two hundred twelve patients with enzyme immunoassay and Western blot confirmation of human immunodeficiency virus (HIV) infection were evaluated with anergy panel, lymphocyte cell surface phenotyping, lymphocyte transformation, and serum immunoglobulins. Mitogen responses were used to develop a lymphocyte transformati...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00916939

    authors： Ridley DJ,Houk RW,Reid MJ,Boswell RN

    更新日期：1989-03-01 00:00:00

  • P-glycoprotein-mediated multidrug resistance and lymphokine-activated killer cell susceptibility in ovarian carcinoma.

    abstract：:The sensitivity of tumor cells to lysis by natural killer (NK) and interleukin-2 (IL-2)-activated killer (LAK) cells was studied in three ovarian carcinoma cell lines (2780.9S, SKOV-3, and CHOAUXB1), four multidrug-resistant (MDR) variants, and a melphalan-resistant line. The antitumor activity of LAK cells was evalua...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF01541671

    authors： Savas B,Cole SP,Tsuruo T,Pross HF

    更新日期：1996-11-01 00:00:00

  • The Duesseldorf warning signs for primary immunodeficiency: is it time to change the rules?

    abstract：OBJECTIVE:Different sets of warning signs can be used if primary immunodeficiency (PID) is suspected: those of the Jeffrey Modell Foundation (JMF), the German Patients' Organisation for Primary Immunodeficiencies (DSAI) and the Association of the Scientific Medical Societies in Germany (AWMF). A few studies have tested...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-015-0149-1

    authors： Lankisch P,Schiffner J,Ghosh S,Babor F,Borkhardt A,Laws HJ

    更新日期：2015-04-01 00:00:00

  • N-acetylcysteine administration is associated with reduced activation of NF-kB and preserves lung dendritic cells function in a zymosan-induced generalized inflammation model.

    abstract：PURPOSE:In severe sepsis, functional impairment and decreased numbers of dendritic cells (DCs) are essential reasons for immune function paralysis, secondary organ infection, and organ failure. We investigated the effects of N-acetylcysteine (NAC) administration on protecting lung DCs function in a zymosan-induced gene...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-012-9852-3

    authors： Wang HW,Yang W,Lu JY,Li F,Sun JZ,Zhang W,Guo NN,Gao L,Kang JR

    更新日期：2013-04-01 00:00:00

  • Chronic arsenic exposure impairs macrophage functions in the exposed individuals.

    abstract：INTRODUCTION:Owing to the established roles of human macrophages in immune defense, we investigated the effect of chronic arsenic exposure upon these major hematopoietic cells in 70 arsenic-exposed individuals with skin lesions and 64 unexposed individuals. METHODS:Human monocyte-derived macrophages were prepared from...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-009-9304-x

    authors： Banerjee N,Banerjee S,Sen R,Bandyopadhyay A,Sarma N,Majumder P,Das JK,Chatterjee M,Kabir SN,Giri AK

    更新日期：2009-09-01 00:00:00

  • T cell subsets in autoimmune and HBV-induced chronic liver disease, HBs antigen carriers with normal histology and primary biliary cirrhosis: a review of the abnormalities and the effects of treatment.

    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：

    authors： Thomas HC,Brown D,Labrooy J,Epstein O

    更新日期：1982-07-01 00:00:00

  • The effects of indomethacin and interleukin-2 on the proliferation of lymphocytes from patients with lung cancer.

    abstract：:The effects of the addition of indomethacin and interleukin-2 (IL-2) to phytohemagglutinin (PHA)-stimulated lymphocytes from patients with untreated squamous-cell carcinoma of the lung and with chronic obstructive pulmonary disease and from normal individuals were studied. In 13 of 21 patients with lung carcinoma, the...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00915506

    authors： Maca RD,Burford JG,Taylor RT

    更新日期：1985-05-01 00:00:00

  • A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.

    abstract：:The noncanonical NF-κB pathway is implicated in diverse biological and immunological processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of NFKB2 have been recently identified as a cause of immunodeficiency manifesting with common variable immunodeficiency (CVID) or combined immunodeficie...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-020-00842-2

    authors： Kuehn HS,Bernasconi A,Niemela JE,Almejun MB,Gallego WAF,Goel S,Stoddard JL,Sánchez RGP,Franco CAA,Oleastro M,Grunebaum E,Ballas Z,Cunningham-Rundles C,Fleisher TA,Franco JL,Danielian S,Rosenzweig SD

    更新日期：2020-11-01 00:00:00

  • Characterizing the immune system after long-term undetectable viral load in HIV-1-infected children.

    abstract：:Thirty two HIV-infected children, on highly active antiretroviral therapy (HAART) and > 500 CD4+ T cells/mm3, were rated according to the time-course of viral load (VL) during the whole follow-up period (> 18 months) in a longitudinal retrospective study. (a) uVL group: 15 children with VL below 400 copies/mL; (b) dVL...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1023/a:1024536816684

    authors： Resino S,Galán I,Bellón JM,Navarro ML,León JA,Muñoz-Fernandez MA

    更新日期：2003-07-01 00:00:00

  • Antibody-dependent cellular cytotoxicity (ADCC)-mediated destruction of human immunodeficiency virus (HIV)-coated CD4+ T lymphocytes by acquired immunodeficiency syndrome (AIDS) effector cells.

    abstract：:The acquired immunodeficiency syndrome (AIDS) is defined in clinical terms by the development of Kaposi's sarcoma and/or severe opportunistic infections in persons without predisposing conditions. A hallmark of the syndrome has been a decrease in the number of CD4+ T helper cells. The reduction in the frequency of the...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00916950

    authors： Katz JD,Nishanian P,Mitsuyasu R,Bonavida B

    更新日期：1988-11-01 00:00:00

  • Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.

    abstract：PURPOSE:Autosomal recessive hyper-IgE syndrome is a rare combined immunodeficiency characterized by susceptibility to viral infections, atopic eczema, high serum IgE and defective T cell activation. The genetic etiologies are diverse. Null mutations in DOCK8 and TYK2 are responsible for many cases. This study aims to p...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-012-9769-x

    authors： Alsum Z,Hawwari A,Alsmadi O,Al-Hissi S,Borrero E,Abu-Staiteh A,Khalak HG,Wakil S,Eldali AM,Arnaout R,Al-Ghonaium A,Al-Muhsen S,Al-Dhekri H,Al-Saud B,Al-Mousa H

    更新日期：2013-01-01 00:00:00

  • Matrix metalloproteinase-9 and autoimmune diseases.

    abstract：:Matrix metalloproteinases (also named matrixin or MMPs) are a major group of enzymes that regulate cell-matrix composition by using zinc for their proteolytic activities. They are essential for various normal biological processes such as embryonic development, morphogenesis, reproduction tissue resorption, and remodel...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章,评审

    doi：10.1007/s10875-006-9022-6

    authors： Ram M,Sherer Y,Shoenfeld Y

    更新日期：2006-07-01 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

  • Enhancement of membrane B7-H3 costimulatory molecule but reduction of its soluble form in multiple sclerosis.

    abstract：PURPOSE:Multiple sclerosis (MS) is an autoimmune disease of the central nervous system mediated by T cells. B7-H3 plays a diverse role in regulating T cell responses. However, its expression and clinical significance in MS are not well known. This study analyzed the expression of membrane B7-H3 (mB7-H3) and levels of s...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-012-9800-2

    authors： Jiang J,Jiang J,Liu C,Zhang G,Gao L,Chen Y,Zhu R,Wang T,Wang F,Zhang X,Xue Q

    更新日期：2013-01-01 00:00:00

  • Changes of natural killer cells during acute psychological stress.

    abstract：:Emotional stress is often followed by increased susceptibility to infections. One major role in the immediate immune response to infection is played by natural killer (NK) cells. This study was designed to establish whether acute psychological stress influences cellular immune functions and to elucidate the role of en...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/BF00919268

    authors： Schedlowski M,Jacobs R,Stratmann G,Richter S,Hädicke A,Tewes U,Wagner TO,Schmidt RE

    更新日期：1993-03-01 00:00:00

  • Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease.

    abstract：:Biallelic mutations in SLC29A3 cause histiocytosis-lymphadenopathy plus syndrome, also known as H syndrome (HS). HS is a complex disorder, with ~ 25% of patients developing autoinflammatory complications consisting of unexplained fevers, persistently elevated inflammatory markers, and unusual lymphadenopathies, with i...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1007/s10875-020-00932-1

    authors： Lara-Reyna S,Poulter JA,Vasconcelos EJR,Kacar M,McDermott MF,Tooze R,Doffinger R,Savic S

    更新日期：2020-12-07 00:00:00

  • Molecular characterization of complement components (C3, C4, and factor B) in human saliva.

    abstract：:A molecular analysis of complement components (C3, C4, and factor B) in human saliva was performed by SDS-PAGE and immunoblotting. Complement C3 was detected as a molecule composed of a 115-kDa alpha-chain linked to a 70-kDa beta chain by disulfide bonds, and C3 levels ranged from 0.52 to 15.0 micrograms/ml (n = 15). ...

    journal_title：Journal of clinical immunology

    pub_type： 杂志文章

    doi：10.1023/a:1027320425291

    authors： Andoh A,Fujiyama Y,Kimura T,Uchihara H,Sakumoto H,Okabe H,Bamba T

    更新日期：1997-09-01 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