Primary antibody deficiencies

[1]  J. B. Oliveira,et al.  Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK , 2013, Proceedings of the National Academy of Sciences.

[2]  A. Schäffer,et al.  Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome , 2013, The Journal of experimental medicine.

[3]  Arndt Borkhardt,et al.  Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27 , 2013, Haematologica.

[4]  Anne-Kathrin Kienzler,et al.  Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. , 2013, The Journal of allergy and clinical immunology.

[5]  E. Meffre,et al.  Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans , 2013, Autoimmunity.

[6]  A. Fischer,et al.  Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”) , 2012, The Journal of experimental medicine.

[7]  J. Casanova,et al.  IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients. , 2012, Blood.

[8]  T. Chun,et al.  Humans with chronic granulomatous disease maintain humoral immunologic memory despite low frequencies of circulating memory B cells. , 2012, Blood.

[9]  L. Staudt,et al.  Congenital B cell lymphocytosis explained by novel germline CARD11 mutations , 2012, The Journal of experimental medicine.

[10]  Smita Y. Patel,et al.  Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts. , 2012, The Journal of allergy and clinical immunology.

[11]  F. Rieux-Laucat,et al.  Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. , 2012, The Journal of allergy and clinical immunology.

[12]  V. Pascual,et al.  Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency , 2012, Nature Immunology.

[13]  Qing Zhou,et al.  A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. , 2012, American journal of human genetics.

[14]  W. Leonard,et al.  Regulatory B Cells Control T Cell Autoimmunity Through IL-21-Dependent Cognate Interactions , 2012, Nature.

[15]  S. Tangye,et al.  The origins, function, and regulation of T follicular helper cells , 2012, The Journal of experimental medicine.

[16]  J. Casanova,et al.  Functional STAT3 deficiency compromises the generation of human T follicular helper cells. , 2012, Blood.

[17]  F. Alt,et al.  Wiskott-Aldrich syndrome protein (WASP) and N-WASP are critical for peripheral B-cell development and function. , 2012, Blood.

[18]  F. Rieux-Laucat,et al.  MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. , 2012, Blood.

[19]  Bodo Grimbacher,et al.  Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. , 2012, American Journal of Human Genetics.

[20]  E. Coustan-Smith,et al.  Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K , 2012, The Journal of experimental medicine.

[21]  J. Orange,et al.  CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. , 2012, The Journal of allergy and clinical immunology.

[22]  Anne-Kathrin Kienzler,et al.  Genetic CD21 deficiency is associated with hypogammaglobulinemia. , 2012, The Journal of allergy and clinical immunology.

[23]  A. Fischer,et al.  Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia. , 2012, The Journal of allergy and clinical immunology.

[24]  Yixin Zeng,et al.  Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis , 2012, The Journal of experimental medicine.

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[26]  S. Tangye,et al.  T cell–B cell interactions in primary immunodeficiencies , 2012, Annals of the New York Academy of Sciences.

[27]  H. Kaneko,et al.  A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome. , 2012, The Journal of allergy and clinical immunology.

[28]  Eric O Long,et al.  Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. , 2012, The New England journal of medicine.

[29]  A. Fischer,et al.  Human MSH6 Deficiency Is Associated with Impaired Antibody Maturation , 2012, The Journal of Immunology.

[30]  L. Notarangelo,et al.  A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP , 2012, The Journal of Experimental Medicine.

[31]  S. Serrano,et al.  B–helper neutrophils stimulate immunoglobulin diversification and production in the marginal zone of the spleen , 2011, Nature Immunology.

[32]  J. Ziegler,et al.  IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo. , 2011, Blood.

[33]  E. Meffre.  The establishment of early B cell tolerance in humans: lessons from primary immunodeficiency diseases , 2011, Annals of the New York Academy of Sciences.

[34]  M. van der Burg,et al.  Checkpoints of B cell differentiation: visualizing Ig‐centric processes , 2011, Annals of the New York Academy of Sciences.

[35]  A. Schäffer,et al.  The phenotype of human STK4 deficiency. , 2011, Blood.

[36]  S. Pittaluga,et al.  Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand. , 2011, Blood.

[37]  B. Smart.  Stem-Cell Gene Therapy for the Wiskott-Aldrich Syndrome , 2011, Pediatrics.

[38]  Bernard Keavney,et al.  Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. , 2011, Blood.

[39]  C. Alpers,et al.  WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity , 2011, The Journal of experimental medicine.

[40]  A. Fischer,et al.  Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. , 2011, Blood.

[41]  C. Wijmenga,et al.  Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. , 2011, American journal of human genetics.

[42]  D. Pan,et al.  The hippo signaling pathway in development and cancer. , 2010, Developmental cell.

[43]  F. Alt,et al.  Hypomorphic Rag mutations can cause destructive midline granulomatous disease. , 2010, Blood.

[44]  Richard S. Kayne.  Comparisons and Contrasts , 2010 .

[45]  Frederic D. Bushman,et al.  Efficacy of gene therapy for X-linked severe combined immunodeficiency. , 2010, The New England journal of medicine.

[46]  C. Cunningham-Rundles,et al.  Complement receptor 2/CD21- human naive B cells contain mostly autoreactive unresponsive clones. , 2010, Blood.

[47]  A. Fischer,et al.  Immunodeficiency due to mutations in ORAI1 and STIM1. , 2010, Clinical immunology.

[48]  M. van der Burg,et al.  CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. , 2010, The Journal of clinical investigation.

[49]  D. Liggitt,et al.  B cell-specific lentiviral gene therapy leads to sustained B-cell functional recovery in a murine model of X-linked agammaglobulinemia. , 2010, Blood.

[50]  Sami Al-Hajjar,et al.  B cell–intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans , 2010, The Journal of experimental medicine.

[51]  R. Bende,et al.  CD20 deficiency in humans results in impaired T cell-independent antibody responses. , 2010, The Journal of clinical investigation.

[52]  S. Holland,et al.  Combined immunodeficiency associated with DOCK8 mutations. , 2009, The New England journal of medicine.

[53]  Alessandro Aiuti,et al.  Gene therapy for immunodeficiency due to adenosine deaminase deficiency. , 2009, The New England journal of medicine.

[54]  S. Tangye,et al.  Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production , 2009, Nature Immunology.

[55]  Stephen L. Hauser,et al.  Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases , 2009, Proceedings of the National Academy of Sciences.

[56]  Anne-Kathrin Kienzler,et al.  B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans , 2009, Proceedings of the National Academy of Sciences.

[57]  K. Schwarz,et al.  Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells , 2009, Proceedings of the National Academy of Sciences.

[58]  F. Rieux-Laucat,et al.  STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. , 2009, The New England journal of medicine.

[59]  S. Knapp,et al.  Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. , 2009, The Journal of clinical investigation.

[60]  D. Campana,et al.  Primary B cell immunodeficiencies: comparisons and contrasts. , 2009, Annual review of immunology.

[61]  Edward S. Miller,et al.  The RIDDLE Syndrome Protein Mediates a Ubiquitin-Dependent Signaling Cascade at Sites of DNA Damage , 2009, Cell.

[62]  J. Orange,et al.  Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. , 2008, The Journal of allergy and clinical immunology.

[63]  A. Schäffer,et al.  Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. , 2008, Blood.

[64]  A. Fischer,et al.  Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination , 2008, The Journal of experimental medicine.

[65]  F. Klauschen,et al.  SAP-controlled T-B cell interactions underlie germinal centre formation , 2008, Nature.

[66]  K. Itoh,et al.  Activation-Induced Cytidine Deaminase Deficiency Causes Organ-Specific Autoimmune Disease , 2008, PloS one.

[67]  U. Pannicke,et al.  An immunodeficiency disease with RAG mutations and granulomas. , 2008, The New England journal of medicine.

[68]  H. Takada,et al.  Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome , 2007, Nature.

[69]  A. Plebani,et al.  ICOS Deficiency Is Associated with a Severe Reduction of CXCR5+CD4 Germinal Center Th Cells1 , 2006, The Journal of Immunology.

[70]  Bogdan Tanasa,et al.  A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function , 2006, Nature.

[71]  M. van der Burg,et al.  An antibody-deficiency syndrome due to mutations in the CD19 gene. , 2006, The New England journal of medicine.

[72]  M. van der Burg,et al.  Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency. , 2006, Blood.

[73]  E. López-Granados,et al.  A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia. , 2005, The Journal of allergy and clinical immunology.

[74]  P. Brandtzaeg,et al.  Mucosal B cells: phenotypic characteristics, transcriptional regulation, and homing properties , 2005, Immunological reviews.

[75]  R. Geha,et al.  TACI is mutant in common variable immunodeficiency and IgA deficiency , 2005, Nature Genetics.

[76]  A. Schäffer,et al.  Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans , 2005, Nature Genetics.

[77]  A. Fischer,et al.  Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. , 2005, Clinical immunology.

[78]  Samantha J. Hardy,et al.  Wiskott-Aldrich syndrome protein deficiency leads to reduced B-cell adhesion, migration, and homing, and a delayed humoral immune response. , 2005, Blood.

[79]  A. Fischer,et al.  Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3 , 2004 .

[80]  D. Fruman.  Phosphoinositide 3-kinase and its targets in B-cell and T-cell signaling. , 2004, Current opinion in immunology.

[81]  M. Milili,et al.  Defective B-cell-negative selection and terminal differentiation in the ICF syndrome. , 2004, Blood.

[82]  A. Simon,et al.  Effect of CD3δ Deficiency on Maturation of α/β and γ/δ T-Cell Lineages in Severe Combined Immunodeficiency , 2003 .

[83]  A. Fischer,et al.  A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency , 2003 .

[84]  A. Fischer,et al.  Human uracil–DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination , 2003, Nature Immunology.

[85]  M. Nussenzweig,et al.  Predominant Autoantibody Production by Early Human B Cell Precursors , 2003, Science.

[86]  A. Fischer,et al.  AID mutant analyses indicate requirement for class-switch-specific cofactors , 2003, Nature Immunology.

[87]  R. Gorlin,et al.  Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease , 2003, Nature Genetics.

[88]  Thomas Boehm,et al.  Human Immunoglobulin M Memory B Cells Controlling Streptococcus pneumoniae Infections Are Generated in the Spleen , 2003, The Journal of experimental medicine.

[89]  A. Fischer,et al.  Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. , 2003, The Journal of clinical investigation.

[90]  A. Sher,et al.  A Critical Role for IL-21 in Regulating Immunoglobulin Production , 2002, Science.

[91]  B. Nardelli,et al.  DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL , 2002, Nature Immunology.

[92]  Massimo Marconi,et al.  Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[93]  D. Granoff,et al.  A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. , 2001, Jornal de Pediatria.

[94]  F. Deist,et al.  CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans. , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[95]  S. Orlow,et al.  A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). , 2000, American journal of human genetics.

[96]  A. Fischer,et al.  Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2) , 2000, Cell.

[97]  N. Tommerup,et al.  Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene , 1999, Nature.

[98]  Steven F. Ziegler,et al.  Defective IL7R expression in T-B+NK + severe combined immunodeficiency , 1998, Nature Genetics.

[99]  D. Allen,et al.  The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM , 1998, Nature.

[100]  L. Notarangelo,et al.  Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. , 1997, Journal of immunology.

[101]  U. Pannicke,et al.  RAG Mutations in Human B Cell-Negative SCID , 1996, Science.

[102]  K. Sullivan,et al.  Discordant phenotype in siblings with X-linked agammaglobulinemia. , 1996, American journal of human genetics.

[103]  U. Francke,et al.  Isolation of a novel gene mutated in Wiskott-Aldrich syndrome , 1994, Cell.

[104]  T. Hope,et al.  Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. , 1994, Science.

[105]  L. Notarangelo,et al.  Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM , 1993, Nature.

[106]  M. Lefranc,et al.  Inherited deletion of immunoglobulin heavy chain constant region genes in normal human individuals , 1982, Nature.

[107]  J. Dissing,et al.  Adenosine-deaminase deficiency and combined immunodeficiency syndrome. , 1972, Lancet.

[108]  E. Giblett,et al.  Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. , 1972, Lancet.

[109]  J. Stockman.  Morbidity and mortality in common variable immune deficiency over 4 decades , 2013 .

[110]  R. Geha,et al.  LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. , 2012, The Journal of allergy and clinical immunology.

[111]  Schneider,et al.  DOCK8 Functions as an Adaptor that Links TLR–MyD88 Signaling to B Cell Activation , 2012 .

[112]  Joseph T. Glessner,et al.  Immune deficiencies , infection , and systemic immune disorders Genome-wide association identifies diverse causes of common variable immunodeficiency , 2011 .

[113]  J. Mullikin,et al.  Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness , 2009, Nature Genetics.

[114]  U. Pannicke,et al.  Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2 , 2009, Nature Genetics.

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[116]  G. Kollias,et al.  FDC-specific functions of p55TNFR and IKK2 in the development of FDC networks and of antibody responses. , 2006, Immunity.

[117]  A. Fischer,et al.  Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes). , 2004, Advances in immunology.

[118]  D. Ledbetter,et al.  Familial DiGeorge syndrome and associated partial monosomy of chromosome 22 , 2004, Human Genetics.

[119]  D. Vetrie,et al.  The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases , 1993, Nature.

[120]  Thomas L. Rothstein,et al.  The role of clonal selection and somatic mutation in autoimmunity , 1987, Nature.

[121]  B. Mach,et al.  Rapid A Defect in the Regulation of Major Histocompatibility Complex Class 11 Gene Expression in Human HLA-DR Negative Lymphocytes from Patients with Combined Immunodeficiency Syndrome , 2022 .

[122]  A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP , 2022 .