abstract：PURPOSE:Home-based subcutaneous immunoglobulin (SCIg) therapy is an alternative to hospital-based intravenous infusions (IVIg). However, SCIg requires patient training and long-term support to ensure proper adherence, optimal efficacy and safety. We evaluated if switching patients to home-based SCIg including an interp...

journal_title：Journal of clinical immunology

authors： Perraudin C,Bourdin A,Spertini F,Berger J,Bugnon O

更新日期：2016-07-01 00:00:00

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

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

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

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

abstract：:WHIM syndrome is an autosomal dominant immunodeficiency disease caused by mutations affecting the carboxy-terminus of CXCR4. To characterize novel genetic causes of the syndrome, we recruited a pediatric patient with possible WHIM syndrome, performed CXCR4 gene sequencing and compared his clinical phenotype and CXCR4 ...

journal_title：Journal of clinical immunology

authors： Liu Q,Pan C,Lopez L,Gao J,Velez D,Anaya-O'Brien S,Ulrick J,Littel P,Corns JS,Ellenburg DT,Malech HL,Murphy PM,McDermott DH

更新日期：2016-05-01 00:00:00

abstract：:The complement system plays a central role in defense to encapsulated bacteria through opsonization and membrane attack complex (MAC) dependent lysis. The three activation pathways (classical, lectin, and alternative) converge in the cleavage of C5, which initiates MAC formation and target lysis. C5 deficiency is asso...

journal_title：Journal of clinical immunology

authors： Colobran R,Franco-Jarava C,Martín-Nalda A,Baena N,Gabau E,Padilla N,de la Cruz X,Pujol-Borrell R,Comas D,Soler-Palacín P,Hernández-González M

更新日期：2016-05-01 00:00:00

abstract：:Alloimmune diseases can occur in pregnancy and after blood transfusions, where antibodies are formed, targeting foreign cells and tissues for destruction by myeloid cells through IgG Fc-receptors (FcγR). In pregnancy, antibodies against human blood group or platelet antigens (e.g. HPA1-a) cause life-threatening anemia...

journal_title：Journal of clinical immunology

authors： Sonneveld ME,van der Schoot CE,Vidarsson G

更新日期：2016-05-01 00:00:00

abstract：PURPOSE:Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases. METHODS:We compiled clinical, genetic and serological data from a...

journal_title：Journal of clinical immunology

authors： Briggs TA,Rice GI,Adib N,Ades L,Barete S,Baskar K,Baudouin V,Cebeci AN,Clapuyt P,Coman D,De Somer L,Finezilber Y,Frydman M,Guven A,Heritier S,Karall D,Kulkarni ML,Lebon P,Levitt D,Le Merrer M,Linglart A,Livingst

更新日期：2016-04-01 00:00:00

abstract：:CD8A encodes the CD8α chain of the dimeric CD8 protein, a critical coreceptor of cytotoxic T cells. We report here the comprehensive immunological evaluation of a child with a CD8A missense mutation, providing evidence that CD8 deficiency increases susceptibility to recurrent respiratory infections without interfering...

journal_title：Journal of clinical immunology

authors： Dumontet E,Osman J,Guillemont-Lambert N,Cros G,Moshous D,Picard C

更新日期：2015-11-01 00:00:00

abstract：PURPOSE:We carried out a retrospective analysis of 27 patients with Adenosine Deaminase (ADA) deficiency diagnosed in a single center from 1997 to the 2013, for evaluating whether data regarding types of disease-inducing mutations, biochemical and immunological features as well as clinical outcomes of patients treated ...

journal_title：Journal of clinical immunology

authors： Baffelli R,Notarangelo LD,Imberti L,Hershfield MS,Serana F,Santisteban I,Bolda F,Porta F,Lanfranchi A

更新日期：2015-10-01 00:00:00

abstract：PURPOSE:Nijmegen Breakage Syndrome (NBS) is a rare inherited condition, characterized by microcephaly, chromosomal instability, immunodeficiency, and predisposition to malignancy. This retrospective study, characterizing the clinical and immunological status of patients with NBS at time of diagnosis, was designed to as...

journal_title：Journal of clinical immunology

authors： Wolska-Kuśnierz B,Gregorek H,Chrzanowska K,Piątosa B,Pietrucha B,Heropolitańska-Pliszka E,Pac M,Klaudel-Dreszler M,Kostyuchenko L,Pasic S,Marodi L,Belohradsky BH,Čižnár P,Shcherbina A,Kilic SS,Baumann U,Seidel MG,Genner

更新日期：2015-08-01 00:00:00

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 ...

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

更新日期：2015-07-01 00:00:00

abstract：PURPOSE:Complete DiGeorge syndrome (cDGS) describes a subset of patients with DiGeorge syndrome that have thymic aplasia, and thus are at risk for severe opportunistic infections. Patients with cDGS and mycobacterial infection have not previously been described. We present this case to illustrate that patients with cDG...

journal_title：Journal of clinical immunology

authors： Yin SM,Ferdman RM,Wang L,Markert ML,Tam JS

更新日期：2015-07-01 00:00:00

abstract：PURPOSE:Adenosine deaminase (ADA) deficiency is a systemic disorder of purine metabolism. Deficiency of the purine salvage enzyme ADA leads to the build-up of the toxic metabolites, deoxyadenosine triphosphate and deoxyadenosine. ADA is ubiquitously expressed in all tissues of the body but most profoundly affects lymph...

journal_title：Journal of clinical immunology

authors： Nikolajeva O,Worth A,Hague R,Martinez-Alier N,Smart J,Adams S,Davies EG,Gaspar HB

更新日期：2015-05-01 00:00:00

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

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

更新日期：2015-04-01 00:00:00

abstract：:MECP2 (methyl CpG binding protein 2) duplication causes syndromic intellectual disability. Patients often suffer from life-threatening infections, suggesting an additional immunodeficiency. We describe for the first time the detailed infectious and immunological phenotype of MECP2 duplication syndrome. 17/27 analyzed ...

journal_title：Journal of clinical immunology

authors： Bauer M,Kölsch U,Krüger R,Unterwalder N,Hameister K,Kaiser FM,Vignoli A,Rossi R,Botella MP,Budisteanu M,Rosello M,Orellana C,Tejada MI,Papuc SM,Patat O,Julia S,Touraine R,Gomes T,Wenner K,Xu X,Afenjar A,Toutain

更新日期：2015-02-01 00:00:00

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...

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

更新日期：2015-02-01 00:00:00

abstract：PURPOSE:Combined immunodeficiency (CID) presents a unique challenge to clinicians. Two patients presented with the prior clinical diagnosis of common variable immunodeficiency (CVID) disorder marked by an early age of presentation, opportunistic infections, and persistent lymphopenia. Due to the presence of atypical cl...

journal_title：Journal of clinical immunology

authors： Buchbinder D,Baker R,Lee YN,Ravell J,Zhang Y,McElwee J,Nugent D,Coonrod EM,Durtschi JD,Augustine NH,Voelkerding KV,Csomos K,Rosen L,Browne S,Walter JE,Notarangelo LD,Hill HR,Kumánovics A

更新日期：2015-02-01 00:00:00

abstract：PURPOSE:Survival of the Leishmania parasite within monocytes hinges on its ability to effectively nullify their microbicidal effector mechanisms. Accordingly, this study aimed to delineate this biological niche in patients with visceral leishmaniasis (VL). METHODS:In monocytes, the redox status, antigen presenting cap...

journal_title：Journal of clinical immunology

authors： Roy S,Mukhopadhyay D,Mukherjee S,Ghosh S,Kumar S,Sarkar K,Pal D,Bhowmik P,Mandal K,Modak D,Guha SK,Pramanik N,Goswami RP,Saha B,Chatterjee M

更新日期：2015-01-01 00:00:00

abstract：:Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects of nicotinamide adenine dinucleotide phosphate oxidase. Catalase-positive bacteria and fungi are phagocytosed, but persist within phagocytes, resulting in granulomatous inflammation. Although allogeneic hematopoietic stem cell transpla...

journal_title：Journal of clinical immunology

authors： Shigemura T,Nakazawa Y,Hirabayashi K,Kobayashi N,Sakashita K,Agematsu K,Koike K

更新日期：2015-01-01 00:00:00

abstract：:Interferon-γ receptor 1 (IFN-γR1) deficiency is one of the primary immunodeficiencies conferring Mendelian Susceptibility to Mycobacterial Disease (MSMD). Some cases of neoplasms have been recently reported in patients with MSMD, underlying the already known link between immunodeficiency and carcinogenesis. We report ...

journal_title：Journal of clinical immunology

authors： Taramasso L,Boisson-Dupuis S,Garrè ML,Bondi E,Cama A,Nozza P,Morana G,Casanova JL,Marazzi MG

更新日期：2014-11-01 00:00:00

abstract：BACKGROUND:Several autoimmune disorders have been linked to adverse pregnancy outcome. IgA deficiency shares many autoimmune traits, but its association with pregnancy outcome is unknown. METHODS:Prospective population-based cohort study in Sweden of 613 mothers with IgA deficiency (IgA levels < .07 g/L) diagnosed in ...

journal_title：Journal of clinical immunology

authors： Ludvigsson JF,Neovius M,Stephansson O,Hammarström L

更新日期：2014-10-01 00:00:00

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

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

abstract：PURPOSE:Chronic granulomatous disease (CGD) is an inherited disorder, with phagocytes failing to produce antimicrobial superoxide due to deficient NADPH oxidase activity. Mutations in the gene encoding CYBB are responsible for the majority of the CGD cases. To date, there have been no reports on large samples of childr...

journal_title：Journal of clinical immunology

authors： Xu H,Tian W,Li SJ,Zhang LY,Liu W,Zhao Y,Zhang ZY,Tang XM,Wang M,Wu DQ,Shi JS,Ding Y,Zhao XD,Yang XQ,Jiang LP

更新日期：2014-08-01 00:00:00

abstract：PURPOSE:Patients affected by primary immunodeficiency usually undergo a wide range of infections, including reactivation of latent ones. Here we report two cases suffering from late-onset combined immunodeficiency in which ulcerative enteritis due to human Cytomegalovirus caused a life-threatening malabsorption syndrom...

journal_title：Journal of clinical immunology

authors： Ciccocioppo R,Comoli P,Gallia A,Basso S,Baldanti F,Corazza GR

更新日期：2014-08-01 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

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

abstract：PURPOSE:The dysregulated expression of miRNAs in the immune system may be critical for immune responses to pathogens and evolve into the inflammation seen in sepsis. The aim of this study is to explore the important role of miRNAs in the regulation of the immune response during neonatal sepsis. METHODS:Using a microar...

journal_title：Journal of clinical immunology

authors： Chen J,Jiang S,Cao Y,Yang Y

更新日期：2014-04-01 00:00:00

abstract：:Thymomas can present with a variety of paraneoplastic manifestations, mostly of autoimmune origin, including Good's syndrome when there is associated hypogammaglobulinemia. Although pure red cell aplasia is a recognised complication of thymoma, selective white cell aplasia is very rare, particularly in Good's syndrome...

journal_title：Journal of clinical immunology

authors： Akinosoglou K,Melachrinou M,Siagris D,Koletsis E,Marangos M,Gogos CA,Solomou EE

更新日期：2014-04-01 00:00:00

abstract：:Chronic Granulomatous Disease (CGD), caused by genetic defects in components of the phagocyte NADPH oxidase pathway, leads to recurrent life-threatening bacterial and invasive fungal infections. While a number of unique pathogens have been associated with this disease, the causative organisms may be difficult to ident...

journal_title：Journal of clinical immunology

authors： Ramesh M,Resnick E,Hui Y,Maglione PJ,Mehta H,Kattan J,Bouvier NM,LaBombardi V,Victor TR,Chaturvedi S,Cunningham-Rundles C

更新日期：2014-02-01 00:00:00

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

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

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

authors： Ben-Horin S,Polak-Charcon S,Barshack I,Picard O,Fudim E,Yavzori M,Avivi C,Mardoukh C,Shimoni A,Chowers Y,Maor Y

更新日期：2013-11-01 00:00:00

abstract：PURPOSE:Severe Combined Immune Deficiency (SCID) is universally fatal unless treated with hematopoietic stem cell transplantation (HSCT). Following the identification of disseminated Bacille Calmette-Guérin (BCG) infections in Canadian First Nations, Métis and Inuit (FNMI) children with unrecognized primary immune defi...

journal_title：Journal of clinical immunology

authors： Rozmus J,Junker A,Thibodeau ML,Grenier D,Turvey SE,Yacoub W,Embree J,Haddad E,Langley JM,Ramsingh RM,Singh VA,Long R,Schultz KR

更新日期：2013-11-01 00:00:00

abstract：:Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency due to a defect in one of the NADPH oxidase complex subunits; 70 % of cases are X-linked, due to a CYBB mutation, resulting in defective production of gp91PHOX. Female carriers of X-linked CGD have previously been considered to be unaffected. It is...

journal_title：Journal of clinical immunology

authors： Battersby AC,Cale AM,Goldblatt D,Gennery AR

更新日期：2013-11-01 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

authors： Bax HI,Freeman AF,Anderson VL,Vesterhus P,Laerum D,Pittaluga S,Wilson WH,Holland SM

更新日期：2013-08-01 00:00:00

abstract：PURPOSE:Oxygen therapy (hyperoxia) is essential for the treatment of some neonatal critical care conditions. The lung is the primary target for the changes induced by hyperoxia. Secretory immunoglobulin A (SIgA), IgA and secretory component (SC) reflect the local immunity in the respiratory tract induced by hyperoxia. ...

journal_title：Journal of clinical immunology

authors： Liu DY,Jiang T,Wang S,Cao X

更新日期：2013-07-01 00:00:00

abstract：OBJECTIVES:Gastrointestinal manifestations are frequent in patients with common variable immunodeficiency (CVID), and some of the patients present with celiac-like features. Diagnosing celiac disease (CD) in CVID however is challenging, as autoantibody detection and histopathology of the small intestine cannot reliably...

journal_title：Journal of clinical immunology

authors： Venhoff N,Emmerich F,Neagu M,Salzer U,Koehn C,Driever S,Kreisel W,Rizzi M,Effelsberg NM,Kollert F,Goldacker S,Voll RE,Warnatz K,Thiel J

更新日期：2013-07-01 00:00:00

abstract：INTRODUCTION:Major histocompatibility complex class II (MHC-II) expression deficiency is a combined primary immunodeficiency leading to the impairment of the cellular and humoral immune responses. A majority of affected patients belong to consanguineous families particularly from the Maghreb, where a founder effect for...

journal_title：Journal of clinical immunology

authors： Ben-Mustapha I,Ben-Farhat K,Guirat-Dhouib N,Dhemaied E,Larguèche B,Ben-Ali M,Chemli J,Bouguila J,Ben-Mansour L,Mellouli F,Khemiri M,Béjaoui M,Barbouche MR

更新日期：2013-05-01 00:00:00

abstract：PURPOSE:T-helper (Th) cells abnormalities are considered to be associated with the pathogenesis of Systemic lupus erythematosus (SLE). Recently, The Th22 cells have been identified and implicated in the pathogenesis of autoimmune diseases such as Rheumatoid arthritis (RA), although therir role in Systemic lupus erythem...

journal_title：Journal of clinical immunology

authors： Yang XY,Wang HY,Zhao XY,Wang LJ,Lv QH,Wang QQ

更新日期：2013-05-01 00:00:00

abstract：:During the last five decades, elegant mouse models of hematopoiesis have yielded most of the seminal insights into this complex biological system of self-renewal and lineage commitment. More recent advances in assays to measure human stem and progenitor cells as well as high resolution RNA profiling have revealed that...

journal_title：Journal of clinical immunology

authors： Parekh C,Crooks GM

更新日期：2013-05-01 00:00:00

abstract：INTRODUCTION:Complement deficiencies are rare primary immunodeficiency disorders, the diagnosis of which is often underestimated. Only a small number of molecular studies have been carried out for the characterization of the underlying genetic defects in these cases. PURPOSE:Reporting the first family from the Arabian...

journal_title：Journal of clinical immunology

authors： Arnaout R,Al Shorbaghi S,Al Dhekri H,Al-Mousa H,Al Ghonaium A,Al Saud B,Al Muhsen S,Al Baik L,Hawwari A

更新日期：2013-05-01 00:00:00

abstract：PURPOSE:The aim of this study was to assess peripheral blood dendritic cell (DC) frequencies and Dendritic Cell-specific intracellular adhesion molecule 3 grabbing non-integrin related (DC-SIGNR) genotyping in healthy individuals, injecting drug users and HIV-1 infected individuals and correlate with different clinical...

journal_title：Journal of clinical immunology

authors： Chaudhary O,Bala M,Singh J,Hazarika A,Kumar R,Luthra K

更新日期：2013-05-01 00:00:00