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allergy and immunology (17) 17
humans (15) 15
index medicus (15) 15
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activated phosphoinositide 3-kinase δ syndrome (2) 2
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1. Full Text Hematopoietic stem cell transplantation in patients with Gain of Function STAT1 Mutation
by Leiding, Jennifer W., MD and Okada, Satoshi, MD PhD and Hagin, David, MD PhD and Abinun, Mario, MD and Shcherbina, Anna, MD and Balashov, Dmitry N., MD and Kim, Vy H.D., MD and Ovadia, Adi, MD and Guthery, Stephen L., MD and Pulsipher, Michael, MD and Lilic, Desa, MD DSc PhD and Devlin, Lisa A., MD and Christie, Sharon, MD and Depner, Mark, MD and Fuchs, Sebastian, PhD and van Royen-Kerkhof, Annet, MD, PhD and Lindemans, Caroline, MD PhD and Petrovic, Aleksandra, MD and Sullivan, Kathleen E., MD PhD and Bunin, Nancy, MD and Kilic, Sara Sebnem, MD and Arpaci, Fikret, MD and Calle-Martin, Oscar de la, MD and Martinez-Martinez, Laura, PhD and Aldave, Juan Carlos, MD and Kobayashi, Masao, MD PhD and Ohkawa, Teppei, MD and Imai, Kohsuke, MD, PhD and Iguchi, Akihiro, MD PhD and Roifman, Chaim M., MD and Gennery, Andrew R., MD and Slatter, Mary, MD and Ochs, Hans D., MD and Morio, Tomohiro, MD PhD and Torgerson, Troy R., MD PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017
Abstract Background Gain of function mutations in signal transducer and activator of transcription 1 (GOF-STAT1) cause a susceptibility to a range of... 
Allergy and Immunology
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2. Full Text X-linked agammaglobulinemia
by Singh, Surjit, MD and Rawat, Amit, MD and Suri, Deepti, MD and Gupta, Anju, MD and Garg, Ravinder, MSc and Saikia, Biman, MD and Minz, Ranjana Walker, MD and Sehgal, Shobha, MD and Chan, Koon-Wing, MSc and Lau, Yu Lung, MD and Kamae, Chikako, MD and Honma, Kenichi, MD and Nakagawa, Noriko, MD, PhD and Imai, Kohsuke, MD, PhD and Nonoyama, Shigeaki, MD, PhD and Oshima, Koichi, MD, PhD and Mitsuiki, Noriko, MD and Ohara, Osamu, PhD
Annals of Allergy, Asthma & Immunology, ISSN 1081-1206, 2016, Volume 117, Issue 4, pp. 405 - 411
Abstract Background X-linked agammaglobulinemia (XLA) is an X-linked genetic defect in maturation of B lymphocytes that results in the absence of B lymphocytes... 
Allergy and Immunology
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3. Full Text Pooled Analysis of Patient Treatment Satisfaction from Five Hizentra Studies
by Rojavin, Mikhail, PhD and Kanegane, Hirokazu, MD, PhD and Borte, Michael and Imai, Kohsuke, MD, PhD and Hubsch, Alphonse P and Soop, Helena and Jolles, Stephen R., MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 137, Issue 2, pp. AB84 - AB84
  Rationale To investigate patient treatment satisfaction (TS) and health-related quality of life (HRQoL) in Caucasian and Japanese patients with primary... 
Allergy and Immunology | Medicine, Experimental | Medical research | Patient satisfaction | Developmental biology | Analysis | College graduates | Studies | Patients | Quality of life
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4. Full Text Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
by Coulter, Tanya I., MRCPI and Chandra, Anita, PhD, FRCPath and Bacon, Chris M., PhD, FRCPath and Babar, Judith, MRCP, FRCR and Curtis, James, PhD and Screaton, Nick, FRCP, FRCR and Goodlad, John R., MD, FRCPath and Farmer, George, MD and Steele, Cathal Laurence, MB and Leahy, Timothy Ronan, MRCPI and Doffinger, Rainer, PhD, FRCPath and Baxendale, Helen, PhD, FRCPath and Bernatoniene, Jolanta, PhD and Edgar, J. David M., FRCP, FRCPath and Longhurst, Hilary J., PhD, FRCPath and Ehl, Stephan, MD, PhD and Speckmann, Carsten, MD and Grimbacher, Bodo, MD, PhD and Sediva, Anna, MD, PhD and Milota, Tomas, MD and Faust, Saul N., PhD, FRCPCH and Williams, Anthony P., PhD, FRCPath and Hayman, Grant, FRCP, FRCPath and Kucuk, Zeynep Yesim, MD and Hague, Rosie, MRCP, FRCPH and French, Paul, MD, MRCS, DipFMS, FRCPath and Brooker, Richard, FRCPCH and Forsyth, Peter, FRCPath and Herriot, Richard, FRCP, FRCPath and Cancrini, Caterina, MD, PhD and Palma, Paolo, MD, PhD and Ariganello, Paola, MD and Conlon, Niall, PhD, FRCPath and Feighery, Conleth, PhD, FRCPath and Gavin, Patrick J., MD and Jones, Alison, PhD, FRCPCH and Imai, Kohsuke, MD, PhD and Ibrahim, Mohammad A.A., PhD, FRCP, FRCPath and Markelj, Gašper, MD and Abinun, Mario, MD, PhD and Rieux-Laucat, Frédéric, PhD and Latour, Sylvain, PhD and Pellier, Isabelle, MD, PhD and Fischer, Alain, MD, PhD and Touzot, Fabien, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Durandy, Anne, MD, PhD and Burns, Siobhan O., MD, PhD and Savic, Sinisa, PhD, FRCPath and Kumararatne, D.S., FRCPath, DPhil (Oxon) and Moshous, Despina, MD, PhD and Kracker, Sven, PhD and Vanhaesebroeck, Bart, PhD, FMedSci and Okkenhaug, Klaus, PhD and Picard, Capucine, MD, PhD and Nejentsev, Sergey, MD, PhD and Condliffe, Alison M., PhD, FRCP and Cant, Andrew James, MD, FRCP, FRCPH
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 597 - 606.e4
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in... 
Allergy and Immunology | Activated phosphoinositide 3-kinase δ syndrome | hematopoietic stem cell transplantation | phosphoinositide 3-kinase δ | immunodeficiency | phosphoinositide 3-kinase inhibitor | PIK3CD gene | bronchiectasis | p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency | Recurrence | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Class I Phosphatidylinositol 3-Kinases/antagonists & inhibitors | Young Adult | Immunoglobulins, Intravenous/therapeutic use | Enzyme Inhibitors/therapeutic use | Lymphoproliferative Disorders/genetics | Adult | Female | Surveys and Questionnaires | Child | Respiratory Tract Infections/genetics | Mutation/genetics | Hematopoietic Stem Cell Transplantation | International Cooperation | Herpesviridae Infections/genetics | Animals | Adolescent | Survival Analysis | Mice | Immunologic Deficiency Syndromes/genetics | Cohort Studies | Activated phosphoinositide 3-kinase delta syndrome | IMMUNOLOGICAL FEATURES | HYPER-IGM SYNDROME | p110 delta-activating mutation causing senescent T cells | hematopoietic stem cell | COMMON VARIABLE IMMUNODEFICIENCY | PIK3CD | IMMUNOLOGY | lymphadenopathy | REFERENCE VALUES | P110-DELTA | phosphoinositide 3-kinase delta | P110 DELTA | B-CELL | ALLERGY | transplantation | MUTATIONS | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Herpesviridae Infections - genetics | Immunologic Deficiency Syndromes - therapy | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Immunologic Deficiency Syndromes - genetics | Immune Deficiencies, Infection, and Systemic Immune Disorders | HSCT, Hematopoietic stem cell transplantation | BALF, Bronchoalveolar lavage fluid | CT, Computed tomography | APDS, Activated phosphoinositide-3 kinase δ syndrome | GOF, Gain of function | PI3K, Phosphoinositide 3-kinase | HSV, Herpes simplex virus | CMV, Cytomegalovirus | OR, Odds ratio | PPV, Pneumococcal polysaccharide vaccine | CNS, Central nervous system
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5. Full Text Haploinsufficiency of TNFAIP3 ( A20 ) by germline mutation is involved in autoimmune lymphoproliferative syndrome
by Takagi, Masatoshi, MD, PhD and Ogata, Shohei, MD, PhD and Ueno, Hiroo, MD and Yoshida, Kenichi, MD, PhD and Yeh, Tzuwen, BSc and Hoshino, Akihiro, MD, PhD and Piao, Jinhua, DDS, PhD and Yamashita, Motoy, MD and Nanya, Mai, PhD and Okano, Tsubasa, MD and Kajiwara, Michiko, MD, PhD and Kanegane, Hirokazu, MD, PhD and Muramatsu, Hideki, MD, PhD and Okuno, Yusuke, MD, PhD and Shiraishi, Yuichi, MD, PhD and Chiba, Kenichi, BA and Tanaka, Hiroko, BS and Bando, Yuki, MD, PhD and Kato, Motohiro, MD, PhD and Hayashi, Yasuhide, MD, PhD and Miyano, Satoru, PhD and Imai, Kohsuke, MD, PhD and Ogawa, Seishi, MD, PhD and Kojima, Seiji, MD, PhD and Morio, Tomohiro, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 6, pp. 1914 - 1922
Background Autoimmune diseases in children are rare and can be difficult to diagnose. Autoimmune lymphoproliferative syndrome (ALPS) is a well-characterized... 
Allergy and Immunology | TNFAIP3 (A20) | Autoimmune lymphoproliferative syndrome | APOPTOSIS | CELLS | LOSS-OF-FUNCTION | HUMANS | IMMUNOLOGY | DEFICIENCY | IMMUNE DYSREGULATION | ALLERGY | DISEASE | CTLA4 | INFECTION | NF-KAPPA-B | Humans | Cells, Cultured | NF-kappa B - immunology | Infant | Male | Haploinsufficiency | Tumor Necrosis Factor alpha-Induced Protein 3 - genetics | Phenotype | Autoimmune Lymphoproliferative Syndrome - genetics | Leukocytes, Mononuclear - immunology | Autoimmune Lymphoproliferative Syndrome - immunology | Germ-Line Mutation | Tumor Necrosis Factor alpha-Induced Protein 3 - immunology | Gene mutations | Developmental biology | Analysis | Genomics | Genetic research | Genetic aspects | Information management | Children | Health aspects | Diseases | Pediatrics | Fas antigen | Disease | Transcription | Genes | Science | Frameshift mutation | Genomes | Kinases | Data bases | Gene sequencing | Proteins | Signal transduction | Alterations | Functional anatomy | Pathways | Lymphocytes | Immunoglobulins | Patients | Tumor necrosis factor | Mutation | Autoimmune diseases | Apoptosis
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6. Full Text Phosphatase and tensin homolog ( PTEN ) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome–like immunodeficiency
by Tsujita, Yuki, MD and Mitsui-Sekinaka, Kanako, MD and Imai, Kohsuke, MD, PhD and Yeh, Tzu-Wen, MSc and Mitsuiki, Noriko, MD, PhD and Asano, Takaki, MD and Ohnishi, Hidenori, MD, PhD and Kato, Zenichiro, MD, PhD and Sekinaka, Yujin, MD and Zaha, Kiyotaka, MD and Kato, Tamaki, MD, PhD and Okano, Tsubasa, MD and Takashima, Takehiro, MD and Kobayashi, Kaoru, MD, PhD and Kimura, Mitsuaki, MD, PhD and Kunitsu, Tomoaki, MD and Maruo, Yoshihiro, MD, PhD and Kanegane, Hirokazu, MD, PhD and Takagi, Masatoshi, MD, PhD and Yoshida, Kenichi, MD, PhD and Okuno, Yusuke, MD, PhD and Muramatsu, Hideki, MD, PhD and Shiraishi, Yuichi, PhD and Chiba, Kenichi, BA and Tanaka, Hiroko, BSc and Miyano, Satoru, PhD and Kojima, Seiji, MD, PhD and Ogawa, Seishi, MD, PhD and Ohara, Osamu, PhD and Okada, Satoshi, MD, PhD and Kobayashi, Masao, MD, PhD and Morio, Tomohiro, MD, PhD and Nonoyama, Shigeaki, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1672 - 1680.e10
Background Activated phosphatidylinositol 3-kinase δ syndrome (APDS) is a recently discovered primary immunodeficiency disease (PID). Excess... 
Allergy and Immunology | primary immunodeficiency disease | phosphatase and tensin homolog | Activated phosphatidylinositol 3-kinase δ syndrome | catalytic subunit p110δ of phosphatidylinositol 3-kinase | Activated phosphatidylinositol 3-kinase delta syndrome | EXCISION CIRCLES | QUANTIFICATION | IMMUNOLOGY | IDENTIFICATION | COWDENS-SYNDROME | CXC CHEMOKINE RECEPTOR-5 | GUTHRIE CARDS | GENE | ALLERGY | GERMLINE MUTATIONS | TUMOR-SUPPRESSOR | T-CELLS | catalytic subunit p110 delta of phosphatidylinositol 3-kinase | PTEN Phosphohydrolase - genetics | Phosphorylation | Class I Phosphatidylinositol 3-Kinases - genetics | Humans | Child, Preschool | Male | Signal Transduction - genetics | Mutation - genetics | Lymphocytes - immunology | DNA Mutational Analysis | Pedigree | Tensins - metabolism | Adolescent | Immunologic Deficiency Syndromes - genetics | Adult | Female | Proto-Oncogene Proteins c-akt - metabolism | Child
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7. Full Text Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations
by Hoshino, Akihiro, MD, PhD and Okada, Satoshi, MD, PhD and Yoshida, Kenichi, MD, PhD and Nishida, Naonori, MD, PhD and Okuno, Yusuke, MD, PhD and Ueno, Hiroo, MD and Yamashita, Motoi, MD and Okano, Tsubasa, MD and Tsumura, Miyuki, PhD and Nishimura, Shiho, MD and Sakata, Sonoko, MD and Kobayashi, Masao, MD, PhD and Nakamura, Haruna, MD and Kamizono, Junji, MD, PhD and Mitsui-Sekinaka, Kanako, MD and Ichimura, Takuya, MD and Ohga, Shouichi, MD, PhD and Nakazawa, Yozo, MD, PhD and Takagi, Masatoshi, MD, PhD and Imai, Kohsuke, MD, PhD and Shiraishi, Yuichi, MD, PhD and Chiba, Kenichi, BA and Tanaka, Hiroko, BS and Miyano, Satoru, PhD and Ogawa, Seishi, MD, PhD and Kojima, Seiji, MD, PhD and Nonoyama, Shigeaki, MD, PhD and Morio, Tomohiro, MD, PhD and Kanegane, Hirokazu, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 140, Issue 1, pp. 223 - 231
Background Ikaros, which is encoded by IKZF1 , is a transcriptional factor that play a critical role in hematopoiesis. Somatic IKZF1 alterations are known to... 
Allergy and Immunology | Acute lymphoblastic leukemia | Ikaros | common lymphoid progenitor | dysgammaglobulinemia | nuclear localization | B-cell deficiency | IKZF1 | autoimmune disease | germline mutation | DNA binding | SYSTEM | ZINC FINGERS | ACTIVATION | DEFECTS | STAGE | B-CELL DIFFERENTIATION | IMMUNOLOGY | ALLERGY | LEUKEMOGENESIS | LYMPHOBLASTIC-LEUKEMIA | Autoimmunity | Humans | Autoimmune Diseases - immunology | Hematopoiesis - genetics | Male | Hematologic Diseases - immunology | Autoimmune Diseases - genetics | Ikaros Transcription Factor - genetics | Young Adult | B-Lymphocytes - immunology | Ikaros Transcription Factor - immunology | Adolescent | Germ-Line Mutation | Hematologic Diseases - genetics | Lymphocyte Count | Adult | Female | T-Lymphocytes - immunology | Child | Medical colleges | Developmental biology | Analysis | Leukemia | Immunodeficiency | Genetic aspects | Pediatrics | Flow cytometry | Lymphopoiesis | Transcription factors | Ikaros protein | Pathogenesis | Genomes | Kinases | Immunoglobulin A | Vasculitis | Systemic lupus erythematosus | Hematopoiesis | Cell cycle | Bone marrow | Localization | Age | Deoxyribonucleic acid--DNA | Binding | Nucleotide sequence | Abnormalities | Patients | Hemopoiesis | Diseases | Thrombocytopenic purpura | Chronic conditions | Lymphocytes B | Plasmids | Purpura | Pancytopenia | Stem cells | Mutation | Autoimmune diseases
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8. Full Text Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome
by Kracker, Sven, PhD and Curtis, James, BSc and Ibrahim, Mohammad A.A., MBBCh, MSc, PhD, FRCPath, FRCP and Sediva, Anna, MD, PhD and Salisbury, Jon, BSc, MD, FRCPath and Campr, Vit, MD and Debré, Marianne, MD and Edgar, J. David M., BSc, FRCP, FRCPath and Imai, Kohsuke, MD, PhD and Picard, Capucine, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Fischer, Alain, MD, PhD and Nejentsev, Sergey, MD, PhD and Durandy, Anne, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 233 - 236.e3
Allergy and Immunology | Immunoglobulin M/genetics | Class I Phosphatidylinositol 3-Kinases/genetics | Gene Expression | Genetic Predisposition to Disease | Immunoglobulin G/genetics | Humans | Male | Immunoglobulin A/genetics | Immunologic Deficiency Syndromes/complications | Adolescent | Adult | Female | Heterozygote | Lymphoma, B-Cell/complications | Mutation | Immunoglobulin Class Switching | IMMUNOLOGY | ALLERGY | DEFICIENCY | MAST-CELLS | PURIFICATION | Lymphoma, B-Cell - complications | Immunologic Deficiency Syndromes - pathology | Class I Phosphatidylinositol 3-Kinases - genetics | Immunoglobulin A - genetics | Class I Phosphatidylinositol 3-Kinases - immunology | Lymphoma, B-Cell - genetics | Immunoglobulin M - immunology | Immunoglobulin G - immunology | Lymphoma, B-Cell - immunology | Immunologic Deficiency Syndromes - immunology | Immunoglobulin M - genetics | Immunologic Deficiency Syndromes - complications | Immunoglobulin G - genetics | Immunoglobulin A - immunology | Lymphoma, B-Cell - pathology | Immunologic Deficiency Syndromes - genetics | primary immunodeficiency | Pi3Kinase delta chain | autosomal dominant | B-cell lymphoma
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9. Full Text Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan
by Mitsui-Sekinaka, Kanako, MD and Imai, Kohsuke, MD, PhD and Sato, Hiroki, MS and Tomizawa, Daisuke, MD, PhD and Kajiwara, Michiko, MD, PhD and Nagasawa, Masayuki, MD, PhD and Morio, Tomohiro, MD, PhD and Nonoyama, Shigeaki, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 4, pp. 1018 - 1024
Background The long-term outcome of X-linked hyper-IgM syndrome (XHIM) caused by mutations in CD40LG is poor, and the only curative treatment is hematopoietic... 
Allergy and Immunology | hyper-IgM syndrome | Cryptosporidium parvum | Cryptococcus neoformans | CD40 ligand | hematopoietic stem cell transplantation | primary immunodeficiency | Pneumocystis jirovecii | combined immunodeficiency | class-switch recombination | DENDRITIC CELLS | IMMUNOLOGY | GENE | ALLERGY | X-LINKED IMMUNODEFICIENCY | EXPERIENCE | MUTATIONS | EXPRESSION | Humans | Japan | Child, Preschool | Hematopoietic Stem Cell Transplantation | Infant | Male | Treatment Outcome | Mutation - genetics | Hyper-IgM Immunodeficiency Syndrome, Type 1 - mortality | Young Adult | CD40 Ligand - genetics | Adolescent | Survival Analysis | Adult | Female | Retrospective Studies | Hyper-IgM Immunodeficiency Syndrome, Type 1 - surgery | Child | Immunoglobulin Class Switching - genetics | Medical colleges | Transplantation | Hematopoietic stem cells | Stem cells | Bone marrow | Bacterial infections | Mutation | Transplants & implants | Mortality
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10. Full Text Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects
by Nakagawa, Noriko, MD and Imai, Kohsuke, MD, PhD and Kanegane, Hirokazu, MD, PhD and Sato, Hiroki, MS and Yamada, Masafumi, MD, PhD and Kondoh, Kensuke, MD, PhD and Okada, Satoshi, MD, PhD and Kobayashi, Masao, MD, PhD and Agematsu, Kazunaga, MD, PhD and Takada, Hidetoshi, MD, PhD and Mitsuiki, Noriko, MD and Oshima, Koichi, MD and Ohara, Osamu, PhD and Suri, Deepti, MD and Rawat, Amit, MD and Singh, Surjit, MD and Pan-Hammarström, Qiang, MD, PhD and Hammarström, Lennart, MD, PhD and Reichenbach, Janine, MD and Seger, Reinhard, MD and Ariga, Tadashi, MD, PhD and Hara, Toshiro, MD, PhD and Miyawaki, Toshio, MD, PhD and Nonoyama, Shigeaki, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 1, pp. 223 - 225.e2
Allergy and Immunology | X-LINKED AGAMMAGLOBULINEMIA | GENETIC-ANALYSIS | IMMUNOLOGY | ALLERGY | LYMPHOCYTES | Agammaglobulinemia - blood | Agammaglobulinemia - genetics | Humans | Sensitivity and Specificity | Gene Rearrangement, B-Lymphocyte, Light Chain - genetics | Agammaglobulinemia - diagnosis | Neonatal Screening - methods | Reverse Transcriptase Polymerase Chain Reaction | Early Diagnosis | Infant, Newborn
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11. Full Text Identification of Severe Combined Immunodeficiency by T-Cell Receptor Excision Circles Quantification Using Neonatal Guthrie Cards
by Morinishi, Yoichi, MD, PhD and Imai, Kohsuke, MD, PhD and Nakagawa, Noriko, MD and Sato, Hiroki, MHSc and Horiuchi, Katsuyuki, MD, PhD and Ohtsuka, Yoshitoshi, MD, PhD and Kaneda, Yumi, MD and Taga, Takashi, MD, PhD and Hisakawa, Hiroaki, MD, PhD and Miyaji, Ryosuke, MD and Endo, Mikiya, MD and Oh–ishi, Tsutomu, MD, PhD and Kamachi, Yoshiro, MD, PhD and Akahane, Koshi, MD and Kobayashi, Chie, MD, PhD and Tsuchida, Masahiro, MD, PhD and Morio, Tomohiro, MD, PhD and Sasahara, Yoji, MD, PhD and Kumaki, Satoru, MD, PhD and Ishigaki, Keiko, MD, PhD and Yoshida, Makoto, MD, PhD and Urabe, Tomonari, MD and Kobayashi, Norimoto, MD, PhD and Okimoto, Yuri, MD, PhD and Reichenbach, Janine, MD, PhD and Hashii, Yoshiko, MD, PhD and Tsuji, Yoichiro, MD, PhD and Kogawa, Kazuhiro, MD, PhD and Yamaguchi, Seiji, MD, PhD and Kanegane, Hirokazu, MD, PhD and Miyawaki, Toshio, MD, PhD and Yamada, Masafumi, MD, PhD and Ariga, Tadashi, MD, PhD and Nonoyama, Shigeaki, MD, PhD
Journal of Pediatrics, The, ISSN 0022-3476, 2009, Volume 155, Issue 6, pp. 829 - 833
Objective To assess the feasibility of T-cell receptor excision circles (TRECs) quantification for neonatal mass screening of severe combined immunodeficiency... 
Pediatrics | PEDIATRICS | Predictive Value of Tests | Severe Combined Immunodeficiency - diagnosis | Humans | Middle Aged | Child, Preschool | Infant | Male | Neonatal Screening - methods | DNA Repair - genetics | Reverse Transcriptase Polymerase Chain Reaction | Feasibility Studies | Young Adult | Severe Combined Immunodeficiency - genetics | Adolescent | Severe Combined Immunodeficiency - blood | Ribonuclease P - blood | Adult | Female | Receptors, Antigen, T-Cell - genetics | Child | Infant, Newborn | Infants (Newborn) | Allergy | Medical colleges | Severe combined immunodeficiency | Immunodeficiency | Transplantation | T cells | Medical screening | Allergic reaction | Hematopoietic stem cells | Polymerase chain reaction | Bone marrow | Cytogenetics | Children | Health aspects | Medical informatics
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12. Full Text Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome
by Kojima, Daiei, MD and Muramatsu, Hideki, MD, PhD and Okuno, Yusuke, MD, PhD and Kataoka, Shinsuke, MD and Murakami, Norihiro, MD and Tanahashi, Yoshihiro, MD and Suzuki, Kyogo, MD and Kato, Tamaki, MD and Sekiya, Yuko, MD and Kawashima, Nozomu, MD, PhD and Narita, Atsushi, MD, PhD and Nishio, Nobuhiro, MD, PhD and Hama, Asahito, MD, PhD and Imai, Kohsuke, MD, PhD and Nonoyama, Shigeaki, MD, PhD and Takahashi, Yoshiyuki, MD, PhD and Kojima, Seiji, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 5, pp. 1471 - 1473.e4
  [...]the survival after thymic transplantation is excellent, and patients develop host-derived naive T cells with normal TCRs and mitogen responses.4... 
Allergy and Immunology | SAMPLE | POPULATION | SEVERE COMBINED IMMUNODEFICIENCY | ALLERGY | IGE | EXACERBATIONS | VALIDATION | ASTHMA | IMMUNOLOGY | CHILDREN | T cells | Medical colleges | Heart failure | Cytomegalovirus | Immunization | T cell receptors | Medical screening | Patients | Defects | Whooping cough | Genotype & phenotype | Lymphocytes | Bone marrow | Mutation | Age | Deoxyribonucleic acid--DNA
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13. Full Text Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles
by Kamae, Chikako, MD and Nakagawa, Noriko, MD, PhD and Sato, Hiroki, MS and Honma, Kenichi, MD and Mitsuiki, Noriko, MD and Ohara, Osamu, PhD and Kanegane, Hirokazu, MD, PhD and Pasic, Srdjan, MD, PhD and Pan-Hammarström, Qiang, MD, PhD and van Zelm, Menno C., PhD and Morio, Tomohiro, MD, PhD and Imai, Kohsuke, MD, PhD and Nonoyama, Shigeaki, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 131, Issue 5, pp. 1437 - 1440.e5
Allergy and Immunology | IMMUNE-DEFICIENCY | IMMUNOLOGY | B-CELL | ALLERGY | Common Variable Immunodeficiency - immunology | Common Variable Immunodeficiency - classification | Genes, Immunoglobulin Light Chain | Humans | Middle Aged | Child, Preschool | Common Variable Immunodeficiency - genetics | Male | Young Adult | Immunoglobulin kappa-Chains - genetics | Adolescent | Adult | Receptors, Antigen, T-Cell - genetics | Genes, T-Cell Receptor | Recombination, Genetic - immunology | Child
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14. Full Text Analysis of somatic hypermutations in the IgM switch region in human B cells
by Horiuchi, Katsuyuki, MD, PhD and Imai, Kohsuke, MD, PhD and Mitsui-Sekinaka, Kanako, MD and Yeh, Tzu-Wen, BSc and Ochs, Hans D., MD, PhD and Durandy, Anne, MD, PhD and Nonoyama, Shigeaki, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 2, pp. 411 - 419.e1
Background The molecular mechanism of class-switch recombination (CSR) in human subjects has not been fully elucidated. The CSR-induced mutations occurring in... 
Allergy and Immunology | Activation-induced cytidine deaminase | immunoglobulin switch region | uracil-DNA glycosylase | somatic hypermutation | antibody maturation | class-switch recombination | RECOMBINATION | CYTIDINE DEAMINASE AID | ACTIVATION | IMMUNOLOGY | URACIL | MLH1 | DEFICIENCY | REPAIR | ALLERGY | MUTATIONS | DNA-POLYMERASE-ETA | IMMUNODEFICIENCY | Cytidine Deaminase - immunology | Somatic Hypermutation, Immunoglobulin | CD40 Ligand - deficiency | Cytidine Deaminase - genetics | Humans | Gene Expression Regulation | Molecular Sequence Data | Infant | Male | Immunoglobulin M - immunology | CD40 Ligand - immunology | Amino Acid Motifs | B-Lymphocytes - immunology | Uracil-DNA Glycosidase - immunology | CD40 Ligand - genetics | Cytidine Deaminase - deficiency | Adult | Immunologic Memory | 5' Flanking Region | Child | Immunoglobulin Class Switching | Uracil-DNA Glycosidase - genetics | Immunoglobulin M - genetics | Uracil-DNA Glycosidase - deficiency | Analysis | B cells | Bacterial infections | Cloning | Mutation | Gene expression | Age | Deoxyribonucleic acid--DNA | Defects
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15. Full Text Two Brothers with Ataxia-Telangiectasia-like Disorder with Lung Adenocarcinoma
by Uchisaka, Naoki, MD and Takahashi, Naomi and Sato, Masaki and Kikuchi, Akira, MD and Mochizuki, Shinji, MD and Imai, Kohsuke, MD, PhD and Nonoyama, Shigeaki, MD, PhD and Ohara, Osamu, PhD and Watanabe, Fumiaki, PhD and Mizutani, Shuki, MD, PhD and Hanada, Ryoji, MD and Morio, Tomohiro, MD, PhD
Journal of Pediatrics, The, ISSN 0022-3476, 2009, Volume 155, Issue 3, pp. 435 - 438
We report on 2 brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. They both had ataxia with cerebellar atrophy and mental retardation.... 
Pediatrics | PEDIATRICS | COMPLEX | REPAIR | NIJMEGEN BREAKAGE SYNDROME | DNA-DAMAGE | Lung Neoplasms - drug therapy | Humans | Lung Neoplasms - radiotherapy | Male | Antineoplastic Agents - therapeutic use | MRE11 Homologue Protein | Taxoids - therapeutic use | Carboplatin - therapeutic use | Autopsy | Fatal Outcome | Adenocarcinoma - genetics | Drug Therapy, Combination | Child | Adenocarcinoma - radiotherapy | Siblings | Ataxia Telangiectasia - diagnosis | Lung Neoplasms - genetics | CA-125 Antigen - blood | Docetaxel | Combined Modality Therapy | DNA-Binding Proteins - genetics | Adenocarcinoma - drug therapy | Adenocarcinoma - diagnosis | Adolescent | Ataxia Telangiectasia - genetics | Mutation | Lung Neoplasms - diagnosis
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16. Full Text Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study
by Elkaim, Elodie, MD and Neven, Benedicte, MD, PhD and Bruneau, Julie, MD, PhD and Mitsui-Sekinaka, Kanako, MD and Stanislas, Aurelie, MSc and Heurtier, Lucie, MSc and Lucas, Carrie L., PhD and Matthews, Helen, BSc and Deau, Marie-Céline, MSc and Sharapova, Svetlana, PhD and Curtis, James, BSc and Reichenbach, Janine, MD and Glastre, Catherine, MD and Parry, David A., PhD and Arumugakani, Gururaj, FRCPath, PhD and McDermott, Elizabeth, MD and Kilic, Sara Sebnem, MD and Yamashita, Motoi, MD and Moshous, Despina, MD, PhD and Lamrini, Hicham, MSc and Otremba, Burkhard, MD and Gennery, Andrew, MD and Coulter, Tanya, MRCPI and Quinti, Isabella, MD and Stephan, Jean-Louis, MD and Lougaris, Vassilios, MD and Brodszki, Nicholas, MD and Barlogis, Vincent, MD and Asano, Takaki, MD and Galicier, Lionel, MD and Boutboul, David, MD, PhD and Nonoyama, Shigeaki, MD, PhD and Cant, Andrew, MD, PhD and Imai, Kohsuke, MD and Picard, Capucine, MD, PhD and Nejentsev, Sergey, PhD and Molina, Thierry Jo, MD, PhD and Lenardo, Michael, MD and Savic, Sinisa, FRCPath, PhD and Cavazzana, Marina, MD, PhD and Fischer, Alain, MD, PhD and Durandy, Anne, MD, PhD and Kracker, Sven, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 1, pp. 210 - 218.e9
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) 2 (p110δ-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency... 
Allergy and Immunology | and immunodeficiency | p110δ-activating mutations causing senescent T cells | hyper-IgM | adenopathy | p110δ | activated phosphoinositide 3-kinase δ syndrome | p85α | antibody deficiency | immunodeficiency | lymphadenopathy | phosphoinositide 3-kinase | Primary immunodeficiency | Class I Phosphatidylinositol 3-Kinases/genetics | RNA Splice Sites | Gene Frequency | Humans | Middle Aged | Immunologic Deficiency Syndromes/diagnosis | Child, Preschool | Genotype | Male | Young Adult | CD8-Positive T-Lymphocytes/immunology | Phenotype | T-Lymphocyte Subsets/immunology | Biopsy | Adolescent | Alleles | Adult | Female | Mutation | Child | Cohort Studies | p110 delta-activating mutations causing senescent T cells | CELLS | HUMAN IMMUNODEFICIENCY | KINASE | p85 alpha | IMMUNOLOGY | p110 delta | ALLERGY | MUTATIONS | activated phosphoinositide 3-kinase delta syndrome | T-Lymphocyte Subsets - immunology | Class I Phosphatidylinositol 3-Kinases - genetics | Immunologic Deficiency Syndromes - etiology | Immunologic Deficiency Syndromes - mortality | CD8-Positive T-Lymphocytes - metabolism | Immunologic Deficiency Syndromes - diagnosis | T-Lymphocyte Subsets - metabolism | CD8-Positive T-Lymphocytes - immunology | Life Sciences | Human health and pathology | Economics and Finance | Psychology | Santé publique et épidémiologie | Humanities and Social Sciences | Psychiatrics and mental health
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