Abstract:
:Hypomorphic mutations in the gene encoding Bruton tyrosine kinase (BTK) may result in milder phenotypes and delayed diagnosis of B-cell related immunodeficiencies due to residual BTK function. Newborn screening for kappa-deleting-recombination-excision circles (KRECs) reliably identifies classical X-linked agammaglobulinaemia (XLA) patients with profound B-cell lymphopenia at birth but has not been evaluated in patients with residual BTK function. We aimed to evaluate clinical findings, BTK function and KREC copy numbers in three patients with BTK mutations presenting with impaired polysaccharide responsiveness without agammaglobulinaemia. One patient had an invasive pneumococcal infection at the age of 4 years. All three patients (two brothers) had visible tonsils, normal to slightly decreased immunoglobulin G levels, undetectable pneumococcal antibodies despite pneumococcal conjugate vaccinations, no antibody response after a diagnostic polysaccharide vaccination as well as profound B-cell lymphopenia with residual B-cell differentiation. BTK mutations were identified by Sanger sequencing. BTK staining and phosphorylation assays were performed on peripheral B cells. KREC copy numbers were determined from dried blood spots obtained within the first week of life as well as once at the age of 8, 6 and 3 years, respectively. BTK staining showed residual protein expression. Also, residual BTK activity could be demonstrated. KREC copy numbers from dried blood spots were above the threshold set for detection of patients with profound B-cell lymphopenia. Male patients with impaired polysaccharide responsiveness should be evaluated for B-cell lymphopenia followed by BTK analyses irrespective of immunoglobulin levels or tonsil size.
journal_name
Scand J Immunoljournal_title
Scandinavian journal of immunologyauthors
Krüger R,Baumann U,Borte S,Kölsch U,Lorenz MR,Keller B,Harder I,Warnatz K,Ehl S,Schwarz K,Wahn V,von Bernuth Hdoi
10.1111/sji.12811subject
Has Abstractpub_date
2020-01-01 00:00:00pages
e12811issue
1eissn
0300-9475issn
1365-3083journal_volume
91pub_type
杂志文章abstract::The restriction fragment length polymorphism of the human tumour necrosis factor (TNF alpha) region was investigated by means of 20 different restriction enzymes and a human TNF alpha cDNA probe. Only one of the enzymes, NcoI, revealed a polymorphic pattern consisting of fragments of 10.5 and 5.5 kb, which behaved as ...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1989.tb01200.x
更新日期:1989-08-01 00:00:00
abstract::Our data on peripheral blood T cells from Motor neuron disease (MND) patients indicate major immunological disturbances linked to this disease. Both CD4+ and CD8+ T-cell subsets display an increased fraction of cells showing activation markers compared to controls, indicating an unusually high level of activity in bot...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1046/j.1365-3083.2001.00923.x
更新日期:2001-07-01 00:00:00
abstract::A computer search was carried out for homologies between HLA-A and HLA-B antigen sequences and the sequences of constant and variable regions of immunoglobulins and of all other sequenced proteins. Searches were made both with relatively short peptide sequences from the HLA antigens and with those longer peptide seque...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1980.tb00026.x
更新日期:1980-01-01 00:00:00
abstract::We have evaluated phagocytosis, C3-binding and cytotoxicity of human leukocytes simultaneously, using IgM-sensitized C3-fragment-bearing sheep erythrocytes (EAC3b, EAC3bi) as targets. In this method, 51Cr-labelled EAC3b or EAC3bi were added to human peripheral granulocytes anchored by fibronectin onto microtitre plate...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1991.tb02544.x
更新日期:1991-06-01 00:00:00
abstract::Mycobacterium tuberculosis (MTB) secretory proteins are generally considered important antigens for immune protection against tuberculosis (TB). An 8.3-kDa secretory antigen of MTB and Mycobacterium bovis bacillus Calmette-Guérin (BCG), called SA5K, was recently identified and cloned in our laboratory. In this report,...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1046/j.1365-3083.2002.01104.x
更新日期:2002-07-01 00:00:00
abstract::The development of B-cell lymphomas is an intricate interplay among various pathogenic factors, leading to a multi-step process, encompassing various stages of B-cell maturation. Besides genetic abnormalities, a variety of environmental and microbial factors, as well as disproportional immune-regulatory processes lead...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-3083.2009.02237.x
更新日期:2009-05-01 00:00:00
abstract::The present study was designed to identify a possible new class of pathogen-recognition proteins that bind single-base oligodeoxynucleotide (ODN) ligands. Binding by the teleost natural killer cell equivalent [referred to as nonspecific cytotoxic cells (NCC)] was compared with mammalian cells (mouse RAW264.7 cells and...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.0300-9475.2004.01455.x
更新日期:2004-09-01 00:00:00
abstract::Immunoglobulin-secreting cells (ISC) in the peripheral blood of healthy individuals and in the bone marrow, peripheral blood, or plasmacytomas of patients with multiple myeloma were enumerated by a protein-A plaque-forming cell assay after treatment with anti-Ia antibody and complement. Rabbit anti-human B-cell antise...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1982.tb00685.x
更新日期:1982-06-01 00:00:00
abstract::MTB12 protein, also called CFP-2, is a major and early secreted component of Mycobacterium tuberculosis. However, its role during mycobacterial infection has been poorly characterized. In this study, we purified the native MTB12 protein and investigated the profile of MTB12-induced cytokines [interferon (IFN)-gamma, t...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.2006.01784.x
更新日期:2006-08-01 00:00:00
abstract::We evaluated the B-cell response in cerebrospinal fluid (CSF) and blood by enumerating cells secreting antibodies to myelin-associated glycoprotein (MAG) and, for reference, to myelin basic protein (MBP), two myelin components which may constitute targets for autoimmune attack in multiple sclerosis (MS). Among 25 untr...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1991.tb02493.x
更新日期:1991-01-01 00:00:00
abstract::Leukaemic blood lymphocytes from a patient in the terminal stage of chronic lymphocytic leukaemia (CLL) according to the Kiel classification were stimulated by lipopolysaccharide from Escherichia coli. During progression to blast transformation, stimulated cells lost receptors for mouse erythrocytes (MRBC), accumulate...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1983.tb00805.x
更新日期:1983-05-01 00:00:00
abstract::The parvalbumin from white muscle of Atlantic salmon was previously found to be a major allergen, and designated Sal s1. Two distinct cDNAs, 14.1 and 24.1, which comprise the entire parvalbumin-encoding regions, were cloned, revealing transcripts from two different parvalbumin genes. In the present study, the protein-...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1046/j.1365-3083.1999.00637.x
更新日期:1999-12-01 00:00:00
abstract::The T-cell differentiation antigen T4/Leu3 has been described as a non-polymorphic molecule important in T-cell recognition of class II major histocompatibility complex antigens. We report the polymorphism of this molecule in black individuals as manifest by a heterogeneity of staining with OKT4 monoclonal antibody. N...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1984.tb01003.x
更新日期:1984-09-01 00:00:00
abstract::The production of antibody by human colostral cells was assayed by the hemolysis in-gel technique. When sheep erythrocytes coated with O antigens from frequently encountered Escherichia coli bacteria were used as detector cells and anti-IgA serum was added for development, numerous plaque-forming cells (PFC) were demo...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1975.tb02659.x
更新日期:1975-09-01 00:00:00
abstract::A Gross virus induced rat T cell lymphoma G1-Tc1 and a Moloney virus induced mouse T cell lymphoma YAC-1 are shown to exert a strong cytotoxic activity against rat yolk sac tumours but not to various types of rat, mouse or human normal cells or tumour cell lines including carcinomas, sarcomas, lymphomas and gliomas. B...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1046/j.1365-3083.1997.d01-156.x
更新日期:1997-11-01 00:00:00
abstract::We have investigated the production of interleukin 2 (IL-2) by human T cells after their stimulation by phytohaemagglutinin (PHA). T cells isolated by rosetting with sheep erythrocytes produced high levels of IL-2. Further separation of rosette-forming cells, according to the expression of Fc receptors for IgG, showed...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1981.tb00570.x
更新日期:1981-09-01 00:00:00
abstract::The therapeutic use of the immune system to specifically attack tumours has been a long-standing vision among tumour immunologists. Recently, the use of checkpoint inhibitors to turn-off immunosuppressive signals has proven to be effective in enhancing T-cell reactivity against patient-specific neoantigens, resulting ...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章,评审
doi:10.1111/sji.12643
更新日期:2018-03-01 00:00:00
abstract::Previously reported experiments suggested that an esterase or a protease, or both, might participate in the expression of human leukocyte migration inhibitory factor (LIF). To clarify this further, a wide variety of simple ester were tested for the ability to protect LIF against inactivation by the serine esterase inh...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1977.tb00328.x
更新日期:1977-01-01 00:00:00
abstract::We have previously shown that various benign and malignant natural killer (NK)-resistant monolayer cells inhibit endogenous human NK activity, probably by reducing the secretion of cytotoxic factors from the effector cells. The nature of the molecules responsible for the inhibition has been unclear. In this study we s...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1988.tb02411.x
更新日期:1988-07-01 00:00:00
abstract::Adaptive immunity is a complex system that appeared twice in vertebrates (in gnathostomes and in jawless fish) although it is not required for invertebrate defence. The adaptive immune system is tightly associated with self-non-self discrimination, and it is now clear that this interplay is not limited to the preventi...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章,评审
doi:10.1111/sji.12348
更新日期:2015-11-01 00:00:00
abstract::Various surface molecules are expressed by activated T cells. Among them, the CD30 antigen has been proposed as a reproducible marker that identifies a subset of differentiated and/or activated T lymphocytes that produce T helper (Th)-2-type cytokines, i.e. interleukin (IL)-4 and IL-5. However, because CD30 has mainly...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1046/j.1365-3083.1997.d01-416.x
更新日期:1997-04-01 00:00:00
abstract::Chromosomally marked cells from the 7-day intraembryonic mesenchyme were transplanted into 14-day-old irradiated chick embryos. At the age of 6 weeks donor-derived T and B lymphocytes were shown to be present in the thymus, spleen and bone marrow, indicating that cells in the 7-day intraembryonic mesenchyme are capabl...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1980.tb00011.x
更新日期:1980-01-01 00:00:00
abstract::A truncated form of the class II antigen DR alpha chain of the human major histocompatibility complex was produced in bacteria. A cDNA clone encoding the intact chain was modified so that the segment encoding the signal sequence was replaced by an ATG codon and the 3' region downstream to the part corresponding to the...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1987.tb02259.x
更新日期:1987-09-01 00:00:00
abstract::Denaturing high-performance liquid chromatography (DHPLC) was evaluated as a tool for diagnostic screening of polymorphisms in the tumour necrosis factor receptor superfamily member 6 (TNFRSF6) also known as CD95, Apo-1 or Fas gene. Exons 1-9 of the TNFRSF6 gene were amplified from genomic DNA of 38 individuals, of wh...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.0300-9475.2004.01422.x
更新日期:2004-05-01 00:00:00
abstract::The demonstration in the 1960s that T cells collaborated with B cells in enabling antibody responses to simple protein antigens opened up the challenge of how to investigate the interactions of two rare antigen-specific lymphocytes within a vast population. One idea was that T cells made soluble factors that could act...
journal_title:Scandinavian journal of immunology
pub_type: 传,历史文章,杂志文章
doi:10.1111/j.1365-3083.2005.01604.x
更新日期:2005-07-01 00:00:00
abstract::Immature monocytes residing in the spleens of newborn mice less than 6-7 days of age are known to suppress T-dependent and T-independent immune responses in vitro and in vivo. Suppression is mediated in part through products secreted by the newborn monocytes. In the present study, we have identified 3 monokines secret...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1986.tb01940.x
更新日期:1986-01-01 00:00:00
abstract::C57BL/6 mice treated with intranasal instillation of 100 micrograms of Aspergillus antigen three times a week developed a pulmonary eosinophilia, observed in the bronchoalveolar lavage (BAL) and on histopathological examination. At week 3, the instillation of Aspergillus antigen provoked a 10-fold increase in the BAL ...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1994.tb03334.x
更新日期:1994-01-01 00:00:00
abstract::The pair of microH-chain and kappa L-chain transgenes encoding the Sp6 TNP/DNA-specific IgM was bred onto the rearrangement-deficient genetic background of RAG-2T mice, and onto the kappa L-chain expression-deficient background of iE kappa T mice. Bone marrow of Sp6 transgenic RAG-2T mice contained normal numbers of B...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1995.tb03621.x
更新日期:1995-07-01 00:00:00
abstract::Sendai virus envelope-mediated fusion was used to transfer plasma membrane vesicles of ESb lymphoma cells (H-2d) to syngeneic or allogeneic recipient cells. After fusion, ESb-specific cell surface determinants were detectable on the recipient cells, as revealed by indirect immunofluorescence and cytofluorographic anal...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1984.tb01000.x
更新日期:1984-09-01 00:00:00
abstract::Cells produced in murine T-cell colonies grown in methylcellulose have been studied to evaluate their proliferation, phenotypic differentiation, and ability to give rise to cytotoxic cells. Colony-forming cells from presumably cortical or medullary thymocytes, separated by peanut agglutination, or from lymph nodes, sh...
journal_title:Scandinavian journal of immunology
pub_type: 杂志文章
doi:10.1111/j.1365-3083.1986.tb01963.x
更新日期:1986-02-01 00:00:00