Discovery of single-gene inborn errors of immunity by next generation sequencing.

[1]  J. Casanova,et al.  Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency , 2014, Front. Immunol..

[2]  S. Nejentsev,et al.  Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ☆ , 2014, The Journal of allergy and clinical immunology.

[3]  J. Casanova,et al.  Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015 , 2015, Journal of Clinical Immunology.

[4]  N. McGovern,et al.  The evolution of cellular deficiency in GATA2 mutation. , 2014, Blood.

[5]  J. Orange,et al.  GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. , 2014, Blood.

[6]  Andrew P. Stubbs,et al.  Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes , 2014, Journal of Allergy and Clinical Immunology.

[7]  U. Pannicke,et al.  Deficiency of innate and acquired immunity caused by an IKBKB mutation. , 2013, The New England journal of medicine.

[8]  Nada Jabado,et al.  Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage , 2013, Science.

[9]  Emily M. Coonrod,et al.  Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. , 2013, American journal of human genetics.

[10]  J. Casanova,et al.  A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells. , 2013, The Journal of clinical investigation.

[11]  J. B. Oliveira,et al.  Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency , 2013, Nature Immunology.

[12]  J. Casanova,et al.  An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. , 2013, Immunity.

[13]  A. Bassuk,et al.  Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease , 2013, Journal of Clinical Immunology.

[14]  T. Fleisher Ribosomal Protein SA Haploinsufficiency in Humans With Isolated Congenital Asplenia , 2013, Pediatrics.

[15]  Michael P. Snyder,et al.  Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. , 2013, The Journal of allergy and clinical immunology.

[16]  J. Casanova,et al.  Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood , 2013, The Journal of experimental medicine.

[17]  J. Schug,et al.  Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome , 2013, Proceedings of the National Academy of Sciences.

[18]  A. Fischer,et al.  Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. , 2013, Human molecular genetics.

[19]  Bohdan Waszkowycz,et al.  Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. , 2013, Arthritis and rheumatism.

[20]  J. Mullikin,et al.  A congenital neutrophil defect syndrome associated with mutations in VPS45. , 2013, The New England journal of medicine.

[21]  Toshiro K. Ohsumi,et al.  A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. , 2013, The Journal of allergy and clinical immunology.

[22]  A. Borkhardt,et al.  The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. , 2013, Blood.

[23]  T. Rausch,et al.  Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. , 2013, The Journal of allergy and clinical immunology.

[24]  J. B. Oliveira,et al.  Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans. , 2013, Blood.

[25]  W. Pickl,et al.  B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ. , 2013, Blood.

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

[27]  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.

[28]  P. Awadalla,et al.  Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia , 2013, Journal of Medical Genetics.

[29]  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.

[30]  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.

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

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

[33]  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.

[34]  J. Casanova,et al.  Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency , 2012, Science.

[35]  John H Livingston,et al.  Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature , 2012, Nature Genetics.

[36]  David A. Williams,et al.  Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. , 2012, The Journal of clinical investigation.

[37]  S. Nejentsev,et al.  LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. , 2012, The Journal of allergy and clinical immunology.

[38]  D. Chaussabel,et al.  Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood , 2012, The Journal of experimental medicine.

[39]  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.

[40]  O. Sarig,et al.  Familial pityriasis rubra pilaris is caused by mutations in CARD14. , 2012, American journal of human genetics.

[41]  J. Casanova,et al.  A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. , 2012, The Journal of pediatrics.

[42]  James T. Elder,et al.  Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. , 2012, American journal of human genetics.

[43]  A. Bowcock,et al.  PSORS2 is due to mutations in CARD14. , 2012, American Journal of Human Genetics.

[44]  Bodo Grimbacher,et al.  Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. , 2012, American journal of human genetics.

[45]  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.

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

[47]  J. Casanova,et al.  Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. , 2012, The Journal of clinical investigation.

[48]  L. Metherell,et al.  MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. , 2012, The Journal of clinical investigation.

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

[50]  Hugo Y. K. Lam,et al.  Performance comparison of exome DNA sequencing technologies , 2011, Nature Biotechnology.

[51]  Sahar Mansour,et al.  Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) , 2011, Nature Genetics.

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

[53]  Smita Y. Patel,et al.  Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. , 2011, Blood.

[54]  A. Fischer,et al.  Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis , 2011, The Journal of experimental medicine.

[55]  Anna L. Brown,et al.  Heritable GATA2 Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia , 2011, Nature Genetics.

[56]  D. Douek,et al.  Second messenger role for Mg2+ revealed by human T-cell immunodeficiency , 2011, Nature.

[57]  A. Hoischen,et al.  STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. , 2011, The New England journal of medicine.

[58]  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.

[59]  L. Notarangelo,et al.  Clinical spectrum, pathophysiology and treatment of the Wiskott–Aldrich syndrome , 2011, Current opinion in hematology.

[60]  F. Rieux-Laucat,et al.  Whole-exome-sequencing-based discovery of human FADD deficiency. , 2010, American journal of human genetics.

[61]  S. Pittaluga,et al.  Highly Variable Clinical Phenotypes of Hypomorphic RAG1 Mutations , 2010, Pediatrics.

[62]  J. Casanova,et al.  Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma , 2010, The Journal of experimental medicine.

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

[64]  T. Morio,et al.  Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. , 2006, Immunity.

[65]  Steven M. Holland,et al.  Impairment of Mycobacterial But Not Viral Immunity by a Germline Human STAT1 Mutation , 2001, Science.

[66]  Koenraad Devriendt,et al.  Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia , 2001, Nature Genetics.

[67]  Inder M. Verma,et al.  Severe Liver Degeneration in Mice Lacking the IκB Kinase 2 Gene , 1999 .

[68]  D. Goeddel,et al.  Embryonic Lethality, Liver Degeneration, and Impaired NF-κB Activation in IKK-β-Deficient Mice , 1999 .

[69]  Y. Yazaki,et al.  Xid-like immunodeficiency in mice with disruption of the p85alpha subunit of phosphoinositide 3-kinase. , 1999, Science.

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

[71]  Sandro Santagata,et al.  Partial V(D)J Recombination Activity Leads to Omenn Syndrome , 1998, Cell.

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

[73]  C. Ware,et al.  Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice , 1994, The Journal of experimental medicine.

[74]  Emily H Turner,et al.  Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes , 2009, Nature.

[75]  Sami Al-Hajjar,et al.  Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. , 2003, Nature genetics.

[76]  D. Goeddel,et al.  Embryonic lethality, liver degeneration, and impaired NF-kappa B activation in IKK-beta-deficient mice. , 1999, Immunity.

[77]  I. Verma,et al.  Severe liver degeneration in mice lacking the IkappaB kinase 2 gene. , 1999, Science.