Sequence analysis of BIRC4/XIAP in male patients with common variable immunodeficiency.

Abstract:

BACKGROUND:Common variable immunodeficiency (CVID) is the most common primary antibody deficiency syndrome in humans, but it remains a diagnosis of exclusion in most cases. Several genetically defined primary immunodeficiencies mimic CVID. Among them is the X-linked lymphoproliferative syndrome (XLP) which was shown to be caused by either mutations in the gene SH2D1a/SAP or, more recently, in the BIRC4/XIAP gene. METHODS:We therefore analyzed a cohort of 28 male CVID patients and 2 patients with an IgG subclass deficiency for the prevalence of mutations in BIRC4, encoding for XIAP by direct sequencing. RESULTS:All patients showed a wild-type sequence of BIRC4/XIAP. Two SNPs, rs5956583 (dbSNP126) located in exon 6 (P-->Q) and rs28382740 (dbSNP126) in the 3' untranslated region were observed at the same frequencies as reported in public databases. CONCLUSIONS:We found no patient with a defect in the coding sequence of BIRC4/XIAP in our cohort of 30 hypogammaglobulinemic patients. We therefore estimate that XLP caused by XIAP deficiency may be a very rare differential diagnosis in male patients with CVID.

authors

Salzer U,Hagena T,Webster DB,Grimbacher B

doi

10.1159/000135702

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

147-51

issue

2

eissn

1018-2438

issn

1423-0097

pii

000135702

journal_volume

147

pub_type

杂志文章
  • Differential effects of corticosteroids on serum eosinophil cationic protein and cytokine production in rhinovirus- and respiratory syncytial virus-induced acute exacerbation of childhood asthma.

    abstract:BACKGROUND:Little information is available on eosinophil activation and the cytokine profile in virus-induced acute exacerbation of bronchial asthma; therefore, we examined the effects of treatments that included systemic corticosteroids on serum eosinophil cationic protein (ECP) and 17 cytokines/chemokines in rhinovir...

    journal_title:International archives of allergy and immunology

    pub_type: 临床试验,杂志文章

    doi:10.1159/000327434

    authors: Kato M,Yamada Y,Maruyama K,Hayashi Y

    更新日期:2011-01-01 00:00:00

  • Hypersensitivity reactions to contrast media: prevalence, risk factors and the role of skin tests in diagnosis--a cross-sectional survey.

    abstract:BACKGROUND:Hypersensitivity to contrast media (CMs) may be common and serious. AIM:To evaluate the prevalence of CM hypersensitivity, risk factors associated with it and the role of skin testing in its diagnosis. METHODS:A structured questionnaire was administered to patients who underwent computed tomography during ...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000320760

    authors: Goksel O,Aydın O,Atasoy C,Akyar S,Demirel YS,Misirligil Z,Bavbek S

    更新日期:2011-01-01 00:00:00

  • Adjuvant effect of pertussis toxin on the production of anti-ovalbumin IgE in mice and lack of direct correlation between PCA and ELISA.

    abstract::In studies designed to optimize the production and detection of anti-ovalbumin (anti-Oa) IgE in Ham/ICR mice, a range of doses of both Oa and pertussis toxin as the IgE adjuvant was explored. As determined by 48-hour passive cutaneous anaphylaxis (PCA) tests, the highest titre of anti-Oa IgE was obtained in a three-in...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000236770

    authors: Lindsay DS,Parton R,Wardlaw AC

    更新日期:1994-11-01 00:00:00

  • Deficiency in the serum-derived hyaluronan-associated protein-hyaluronan complex enhances airway hyperresponsiveness in a murine model of asthma.

    abstract:BACKGROUND:Serum-derived hyaluronan (HA)-associated proteins (SHAPs), the heavy chains of inter-α-trypsin inhibitor, covalently bind to HA to form the SHAP-HA complex. The SHAP-HA complex is involved in the pathophysiology of inflammatory diseases, including rheumatoid arthritis. We investigated whether this complex is...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000314362

    authors: Zhu L,Zhuo L,Kimata K,Yamaguchi E,Watanabe H,Aronica MA,Hascall VC,Baba K

    更新日期:2010-01-01 00:00:00

  • Smad3 regulates dermal cytokine and chemokine expression and specific antibody production in murine responses to a respiratory chemical sensitizer.

    abstract:BACKGROUND:The cytokine transforming growth factor-beta(TGF-beta) has important regulatory roles in the immune system. To investigate the role of intact TGF-beta signaling during the contact hypersensitivity (CHS) response to a respiratory allergen, we exposed Smad3-/- mice to topical trimellitic anhydride (TMA). METH...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000236006

    authors: Anthoni M,Fyhrquist N,Lehtimäki S,Alenius H,Wolff H,Lauerma A

    更新日期:2010-01-01 00:00:00

  • Characterization of the allergen group VI in timothy grass pollen (Phl p 6). I. Immunological and biochemical studies.

    abstract::For the identification and characterization of allergen grass group VI we performed two-dimensional immunoblotting of timothy grass pollen (Phleum pratense). Two intense 13-kD protein spots of pI 5.2 and 5.5 were found to be IgE reactive. By N-terminal microsequencing and amino acid analysis we identified them as Phl ...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000237117

    authors: Petersen A,Bufe A,Schlaak M,Becker WM

    更新日期:1995-09-01 00:00:00

  • Expression of VLA-4 on eosinophils decreases in patients with eosinophilia.

    abstract:BACKGROUND:It is assumed that the very late antigen-4 (VLA-4) plays a key role in selective migration and accumulation of eosinophils to the allergic inflammatory focus. The regulatory mechanism for VLA-4 expression is poorly understood, as is its relationship between other adhesion molecules. OBJECTIVE:The aim of the...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000053850

    authors: Kayaba H,Yamada Y,Cui CH,Saito N,Honda K,Kobayashi Y,Urayama O,Chihara J

    更新日期:2001-01-01 00:00:00

  • Immunochemical properties of anti-DNA antibodies in the sera of patients with Escherichia coli bacteremia.

    abstract::To assess the role of infection in anti-DNA antibody production, the DNA-binding activity of sera from patients with Escherichia coli bacteremia was analyzed. Among 8 patients with bacteremia documented by blood culture, 5 demonstrated increased levels of antibodies to single-stranded DNA from E. coli as measured by e...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000236204

    authors: Robertson CR,Pisetsky DS

    更新日期:1992-01-01 00:00:00

  • Histamine augments VCAM-1 expression on IL-4- and TNF-alpha-stimulated human umbilical vein endothelial cells.

    abstract::Interaction between vascular cell adhesion molecule-1 (VCAM-1) on endothelial cells and CD49d molecules on eosinophils is thought to mediate the selective infiltration of eosinophils into inflamed tissues in allergic disease. IL-4 and TNF-alpha are associated with allergic conditions, and they have been shown to selec...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000237357

    authors: Saito H,Shimizu H,Mita H,Maeda Y,Akiyama K

    更新日期:1996-10-01 00:00:00

  • Depression and Smoking Augment the Production of Circulating Autoantibodies against Glycated HSA in Rheumatoid Arthritis Patients.

    abstract:BACKGROUND:Depression and smoking contribute to the prognosis of autoimmune rheumatoid arthritis (RA). Advanced glycation end products (AGEs) are also detected in RA patients. This study correlates RA in patients with various levels of depression and a history of smoking through the detection of antibodies against AGEs...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000489896

    authors: Alouffi S,Sherwani S,Al-Mogbel MS,Sherwani MKA,Ali Khan MW

    更新日期:2018-01-01 00:00:00

  • Skin Care and Synbiotics for Prevention of Atopic Dermatitis or Food Allergy in Newborn Infants: A 2 × 2 Factorial, Randomized, Non-Treatment Controlled Trial.

    abstract:BACKGROUND:Atopic dermatitis (AD) and food allergy (FA) are common childhood diseases, which may either be interrelated or be the result of skin barrier disruption and gut mucosal dysbiosis. Although some evidence suggests the efficacy of emollients and synbiotics, there is no conclusive evidence on the use of these in...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章,随机对照试验

    doi:10.1159/000501636

    authors: Dissanayake E,Tani Y,Nagai K,Sahara M,Mitsuishi C,Togawa Y,Suzuki Y,Nakano T,Yamaide F,Ohno H,Shimojo N

    更新日期:2019-01-01 00:00:00

  • Lipopolysaccharide contamination of beta-lactoglobulin affects the immune response against intraperitoneally and orally administered antigen.

    abstract:BACKGROUND:Microbial components in the environment are potent activators of the immune system with capacity to shift the active immune response towards priming of Th1 and/or Th2 cells. Lipopolysaccharide (LPS), a cell-wall component of Gram-negative bacteria, is extensively present in food products like cow's milk. It ...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000081306

    authors: Brix S,Kjaer TM,Barkholt V,Frøkiaer H

    更新日期:2004-11-01 00:00:00

  • N-terminus of a major allergen, Alt a I, of Alternaria alternata defined to be an epitope.

    abstract::A 20mer peptide representing the N-terminus of a major allergen, Alt a I, of Alternaria alternata was synthesized and examined for its antibody binding and antibody induction activities. Alt a I peptide-BSA conjugate reacted with both human IgE and rabbit anti-Alt a I IgG in ELISA, albeit the binding of the peptide to...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000237161

    authors: Zhang L,Curran IH,Muradia G,De Vouge MW,Rode H,Vijay HM

    更新日期:1995-11-01 00:00:00

  • Association between loss-of-function mutations in the filaggrin gene and self-reported food allergy and alcohol sensitivity.

    abstract:BACKGROUND:Loss-of-function mutations of the filaggrin (FLG) gene cause an impaired skin barrier and increase the risk of atopic dermatitis. Interestingly, FLG mutations have also been found to be associated with a high risk of peanut allergy. OBJECTIVE:We investigated the association of FLG mutations with self-report...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000345949

    authors: Linneberg A,Fenger RV,Husemoen LL,Thuesen BH,Skaaby T,Gonzalez-Quintela A,Vidal C,Carlsen BC,Johansen JD,Menné T,Stender S,Melgaard M,Szecsi PB,Berg ND,Thyssen JP

    更新日期:2013-01-01 00:00:00

  • Verbascoside Alleviates Atopic Dermatitis-Like Symptoms in Mice via Its Potent Anti-Inflammatory Effect.

    abstract:BACKGROUND:Atopic dermatitis (AD) is a chronic inflammatory skin disease characterized by the interplay between multiple genetic and environmental factors. The pathogenesis of AD remains incompletely understood. Treatment with topical steroids for chronic AD symptoms has severe side effects and so a new treatment is re...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000486958

    authors: Li Y,Yu H,Jin Y,Li M,Qu C

    更新日期:2018-01-01 00:00:00

  • Bronchoprotective effect of an intrabronchial administration of cilostazol powder and a nebulized PDE1 and PDE4 inhibitor KF19514 in guinea pigs.

    abstract:BACKGROUND:Both oral and intravenous inhibitors of cyclic nucleotide phosphodiesterase (PDE) 3 and PDE4 have been shown to have bronchodilator and/or pulmonary antiallergic effects but their adverse effects limit the clinical use. The purpose of the present study was to assess the bronchoprotective effect of intrabronc...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000023948

    authors: Fujimura M,Tachibana H,Myou S,Kita T,Matsuda T

    更新日期:1998-07-01 00:00:00

  • Eosinophil development and bone marrow and tissue eosinophils in atopic asthma.

    abstract:BACKGROUND:Eosinophils develop from bone marrow (BM) progenitors, and interleukin-5 (IL-5) and eotaxin may act in expansion and mobilisation of BM eosinophils in asthma. METHODS:We have examined phenotypic changes as CD34+ cells develop to the eosinophil lineage in vitro, and have evaluated BM eosinophils from asthmat...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000024039

    authors: Robinson DS,North J,Zeibecoglou K,Ying S,Meng Q,Rankin S,Hamid Q,Tavernier J,Kay AB

    更新日期:1999-02-01 00:00:00

  • Analysis of IgE-binding factors (sCD23) within newborn sera.

    abstract::Factors are discussed as potential diagnostic parameters of atopic disorders. The amounts of sCD23 in sera from newborn children (n = 4,329) were determined by radioimmunoassay with monoclonal antibodies specific for CD23. The sCD23 levels ranged between 0 and 81.5 ng/ml of CD23-specific mAb. Furthermore, the sera of ...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000236346

    authors: Bujanowski-Weber J,Knöller I,Wahn U,König W

    更新日期:1992-01-01 00:00:00

  • Suppressive effects of SP-A on ionomycin-induced IL-8 production and release by eosinophils.

    abstract::Recent studies have demonstrated that pulmonary surfactant protein (SP)-A plays a potential role in modifying inflammation and immune function. To see whether SP-A could modify IL-8 production and release by eosinophils stimulated with ionomycin, SP-A purified from surfactant recovered from patients with alveolar prot...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000053574

    authors: Cheng G,Ueda T,Nakajima H,Nakajima A,Kinjyo S,Motojima S,Fukuda T

    更新日期:1998-09-01 00:00:00

  • Thioredoxin in allergic inflammation.

    abstract::Thioredoxin (TRX) is a redox-active protein that regulates reactive oxidative metabolism and plays a crucial role in the antioxidant system in regulating the reduction/oxidation balance by scavenging reactive oxygen species, which is implicated in the mechanism of asthma. As for the mechanisms by which TRX exerts its ...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章,评审

    doi:10.1159/000327501

    authors: Ito W,Kobayashi N,Takeda M,Ueki S,Kayaba H,Nakamura H,Yodoi J,Chihara J

    更新日期:2011-01-01 00:00:00

  • Modifications of Phleum pratense grass pollen allergens following artificial exposure to gaseous air pollutants (O(3), NO(2), SO(2)).

    abstract:BACKGROUND:Air pollution is frequently proposed as a potential cause of the increased incidence of allergy in industrialised countries. Our objective was to investigate the impact of the major gaseous air pollutants on grass pollen allergens. METHODS:Timothy grass pollen was exposed to ozone (O(3)), nitrogen dioxide (...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000099079

    authors: Rogerieux F,Godfrin D,Sénéchal H,Motta AC,Marlière M,Peltre G,Lacroix G

    更新日期:2007-01-01 00:00:00

  • Exclusive Bee Venom Allergy: Risk Factors and Outcome of Immunotherapy.

    abstract:INTRODUCTION:Venom immunotherapy (VIT) is considered to be the gold-standard treatment for patients with Hymenoptera venom allergy. Data regarding VIT in bee venom (BV) allergic patients are scarce. AIM:The aim of this study was to evaluate the outcome of VIT in patients with exclusive BV allergy and to try to define ...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000500957

    authors: Rosman Y,Nashef F,Cohen-Engler A,Meir-Shafrir K,Lachover-Roth I,Confino-Cohen R

    更新日期:2019-01-01 00:00:00

  • Lactobacillus casei inhibits antigen-induced IgE secretion through regulation of cytokine production in murine splenocyte cultures.

    abstract:BACKGROUND:Lactobacillus casei is a nonpathogenic gram-positive bacterium widely used in dairy products and has been shown to enhance the cellular immunity of the host. METHODS:To examine the inhibitory effect of L. casei on IgE production, splenocytes obtained from ovalbumin (OVA)-primed BALB/c mice were restimulated...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000069458

    authors: Shida K,Makino K,Morishita A,Takamizawa K,Hachimura S,Ametani A,Sato T,Kumagai Y,Habu S,Kaminogawa S

    更新日期:1998-04-01 00:00:00

  • Elevated soluble ADAM8 in bronchoalveolar lavage fluid in patients with eosinophilic pneumonia.

    abstract:BACKGROUND:ADAM (a disintegrin and metalloprotease) family members, characterized by a metalloprotease and a disintegrin domain, are membrane-anchored glycoproteins involved in proteolysis and cell adhesion. ADAM8 might have an important role in allergic inflammation. It can cleave a variety of substrates and is a shed...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000097359

    authors: Matsuno O,Miyazaki E,Nureki S,Ueno T,Ando M,Ito K,Kumamoto T,Higuchi Y

    更新日期:2007-01-01 00:00:00

  • Investigations on the involvement of the lectin pathway of complement activation in anaphylaxis.

    abstract:BACKGROUND:Systemic anaphylaxis is the most severe form of immediate hypersensitivity reaction. The activation of the complement system occurs during anaphylactic shock. The purpose of this study was to determine in a mouse model whether the lectin pathway of complement activation is involved in anaphylaxis. METHODS:T...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000094177

    authors: Windbichler M,Echtenacher B,Takahashi K,Ezekowitz RA,Schwaeble WJ,Jenseniuis JC,Männel DN

    更新日期:2006-01-01 00:00:00

  • Inhibitory effect of NZ-107 on anaphylactic bronchoconstriction in guinea pigs and rats.

    abstract::We studied the effect of NZ-107 in a number of animal models of anaphylactic bronchoconstriction. In conscious guinea pigs, pretreated with indomethacin, pyrilamine and propranolol, passively sensitized with heterologous anti serum, NZ-107 in doses of 10-30 mg/kg per os inhibited the aerosolized antigen-induced cough ...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000236103

    authors: Iwama T,Shikada K,Yamamoto A,Sakashita M,Hibi M,Tanaka S

    更新日期:1992-01-01 00:00:00

  • 100 years of immunotherapy: the Monaco charter. under the high patronage of His Serene Highness Prince Albert II of Monaco.

    abstract::Aims of the Monaco Charter: (1) to present the current evidence on the efficacy and safety of allergen-specific immunotherapy (SIT) and to address the reasons for its underuse in clinical practice; (2) to develop strategies to increase the awareness about the benefits and the hazards of SIT in allergic patients, lay p...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000343883

    authors: Canonica GW,Baena-Cagnani CE,Compalati E,Bohle B,Bonini S,Bousquet J,Cox L,Fink-Wagner AH,González Díaz S,Jacobsen L,Passalacqua G,Pawankar R,Vieths S,Yusuf O,Zuberbier T

    更新日期:2013-01-01 00:00:00

  • Effects of KW-4679, a new orally active antiallergic drug, on antigen-induced bronchial hyperresponsiveness, airway inflammation and immediate and late asthmatic responses in guinea pigs.

    abstract::We investigated the effects of KW-4679, an antiallergic drug, on the development of bronchial hyperresponsiveness, airway inflammation and early and late asthmatic responses following aerosol antigen challenge in guinea pigs actively sensitized by the inhalation of aerosolized ovalbumin. Pretreatment with KW-4679 (10 ...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000237312

    authors: Ohmori K,Ishii H,Sasaki Y,Ikemura T,Manabe H,Kitamura S

    更新日期:1996-05-01 00:00:00

  • Morphea after silicone gel breast implantation for cosmetic reasons in an HLA-B8, DR3-positive woman.

    abstract::We describe an HLA-B8, DR3-positive patient with localized morphea after silicone gel breast implantation for cosmetic reasons. We believe that this case suggests that a genetic background, i.e. HLA-B8, DR3 haplotype, is involved in the autoimmune response to silicone. ...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000237437

    authors: Di Lorenzo G,Mansueto P,Melluso M,Sangiorgi GB,Cigna D,Candore G,Caruso C

    更新日期:1997-01-01 00:00:00

  • Higher frequencies of CD161+ circulating T lymphocytes in allergic rhinitis patients compared to healthy donors.

    abstract:BACKGROUND:Th17 is a subset of T-helper lymphocytes that produce proinflammatory cytokines, mainly IL-17. Serum IL-17 is increased in allergic patients and relates to clinical severity. Recently, it has been reported that CD161 is a highly upregulated gene in Th17 clones and all IL-17-producing cells are contained in C...

    journal_title:International archives of allergy and immunology

    pub_type: 杂志文章

    doi:10.1159/000330903

    authors: Poggi A,Canevali P,Contatore M,Ciprandi G

    更新日期:2012-01-01 00:00:00