Immunodeficiency due to mutations in ORAI1 and STIM1.

[1]  M. Prakriya,et al.  Structural determinants of ion permeation in CRAC channels , 2009, Proceedings of the National Academy of Sciences.

[2]  A. Fischer,et al.  Primary immunodeficiencies: 2009 update. , 2009, The Journal of allergy and clinical immunology.

[3]  A. Fischer,et al.  ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. , 2009, The Journal of allergy and clinical immunology.

[4]  J. Eilers,et al.  STIM2 Regulates Capacitive Ca2+ Entry in Neurons and Plays a Key Role in Hypoxic Neuronal Cell Death , 2009, Science Signaling.

[5]  K. Chandy,et al.  The functional network of ion channels in T lymphocytes , 2009, Immunological reviews.

[6]  B. Freedman,et al.  B‐lymphocyte calcium inFlux , 2009, Immunological reviews.

[7]  S. Feske.  ORAI1 and STIM1 deficiency in human and mice: roles of store‐operated Ca2+ entry in the immune system and beyond , 2009, Immunological reviews.

[8]  R. Flavell,et al.  Roles of Cav channels and AHNAK1 in T cells: the beauty and the beast , 2009, Immunological reviews.

[9]  M. Oh‐hora.  Calcium signaling in the development and function of T‐lineage cells , 2009, Immunological reviews.

[10]  M. Prakriya.  The molecular physiology of CRAC channels , 2009, Immunological reviews.

[11]  S. Feske,et al.  A minimal regulatory domain in the C terminus of STIM1 binds to and activates ORAI1 CRAC channels. , 2009, Biochemical and biophysical research communications.

[12]  F. Rieux-Laucat,et al.  Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity , 2009, European journal of immunology.

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

[14]  H. Ochs,et al.  TH17 cells and regulatory T cells in primary immunodeficiency diseases. , 2009, The Journal of allergy and clinical immunology.

[15]  O. Carugo,et al.  Increased Hydrophobicity at the N Terminus/Membrane Interface Impairs Gating of the Severe Combined Immunodeficiency-related ORAI1 Mutant* , 2009, The Journal of Biological Chemistry.

[16]  C. Romanin,et al.  A Cytosolic Homomerization and a Modulatory Domain within STIM1 C Terminus Determine Coupling to ORAI1 Channels* , 2009, Journal of Biological Chemistry.

[17]  B. Nieswandt,et al.  STIM1-Independent T Cell Development and Effector Function In Vivo1 , 2009, The Journal of Immunology.

[18]  Elizabeth D. Covington,et al.  STIM1 Clusters and Activates CRAC Channels via Direct Binding of a Cytosolic Domain to Orai1 , 2009, Cell.

[19]  C. Bader,et al.  STIM1- and Orai1-dependent Store-operated Calcium Entry Regulates Human Myoblast Differentiation* , 2009, Journal of Biological Chemistry.

[20]  Joseph P. Yuan,et al.  SOAR and the polybasic STIM1 domains gate and regulate the Orai channels , 2009, Nature Cell Biology.

[21]  O. Carugo,et al.  Increased Hydrophobicity At The N-terminus/membrane Interface Impairs Gating Of The Scid-related Orai1 Mutant , 2009 .

[22]  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.

[23]  Richard J. Miller,et al.  STIM1–Orai1 interactions and Orai1 conformational changes revealed by live‐cell FRET microscopy , 2008, The Journal of physiology.

[24]  R. Dirksen,et al.  Differential dependence of store‐operated and excitation‐coupled Ca2+ entry in skeletal muscle on STIM1 and Orai1 , 2008, The Journal of physiology.

[25]  B. Hille,et al.  Functional stoichiometry of the unitary calcium-release-activated calcium channel , 2008, Proceedings of the National Academy of Sciences.

[26]  Shenyuan L. Zhang,et al.  The CRAC channel consists of a tetramer formed by Stim-induced dimerization of Orai dimers , 2008, Nature.

[27]  T. Renné,et al.  The calcium sensor STIM1 is an essential mediator of arterial thrombosis and ischemic brain infarction , 2008, The Journal of experimental medicine.

[28]  K. Rajewsky,et al.  Hair Loss and Defective T- and B-Cell Function in Mice Lacking ORAI1 , 2008, Molecular and Cellular Biology.

[29]  E. López-Granados,et al.  A novel mutation in NFKBIA/IKBA results in a degradation‐resistant N‐truncated protein and is associated with ectodermal dysplasia with immunodeficiency , 2008, Human mutation.

[30]  J. Eu,et al.  STIM1 signalling controls store-operated calcium entry required for development and contractile function in skeletal muscle , 2008, Nature Cell Biology.

[31]  E. Lamperti,et al.  Dual functions for the endoplasmic reticulum calcium sensors STIM1 and STIM2 in T cell activation and tolerance , 2008, Nature Immunology.

[32]  O. Mignen,et al.  Orai1 subunit stoichiometry of the mammalian CRAC channel pore , 2008, The Journal of physiology.

[33]  Onn Brandman,et al.  STIM2 Is a Feedback Regulator that Stabilizes Basal Cytosolic and Endoplasmic Reticulum Ca2+ Levels , 2007, Cell.

[34]  A. Fischer.  Human primary immunodeficiency diseases. , 2007, Immunity.

[35]  S. Feske,et al.  The duration of nuclear residence of NFAT determines the pattern of cytokine expression in human SCID T cells , 2007, The Journal of Immunology.

[36]  H. Ochs,et al.  Regulatory T cells in primary immunodeficiency diseases , 2007, Current opinion in allergy and clinical immunology.

[37]  A. Scharenberg,et al.  Calcium signalling and cell-fate choice in B cells , 2007, Nature Reviews Immunology.

[38]  Douglas R. McDonald,et al.  Heterozygous N-terminal deletion of IκBα results in functional nuclear factor κB haploinsufficiency, ectodermal dysplasia, and immune deficiency , 2007 .

[39]  S. Feske.  Calcium signalling in lymphocyte activation and disease , 2007, Nature Reviews Immunology.

[40]  J. Wienands,et al.  Ca2+ signaling in antigen receptor‐activated B lymphocytes , 2007, Immunological reviews.

[41]  Y. Gwack,et al.  Biochemical and Functional Characterization of Orai Proteins* , 2007, Journal of Biological Chemistry.

[42]  Hans D. Ochs,et al.  IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity , 2007, Immunologic research.

[43]  Richard S Lewis,et al.  The molecular choreography of a store-operated calcium channel , 2007, Nature.

[44]  O. Sanal,et al.  Differential Biological Role of CD3 Chains Revealed by Human Immunodeficiencies1 , 2007, The Journal of Immunology.

[45]  A. Caudy,et al.  CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. , 2007, The Journal of allergy and clinical immunology.

[46]  A. Belgorosky,et al.  Characterization of Immunodeficiency in a Patient With Growth Hormone Insensitivity Secondary to a Novel STAT5b Gene Mutation , 2006, Pediatrics.

[47]  J. Billingsley,et al.  CRACM1 Multimers Form the Ion-Selective Pore of the CRAC Channel , 2006, Current Biology.

[48]  Shenyuan L. Zhang,et al.  Molecular identification of the CRAC channel by altered ion selectivity in a mutant of Orai , 2006, Nature.

[49]  Y. Gwack,et al.  Orai1 is an essential pore subunit of the CRAC channel , 2006, Nature.

[50]  K. Nadeau,et al.  Cutting Edge: Decreased Accumulation and Regulatory Function of CD4+CD25high T Cells in Human STAT5b Deficiency1 , 2006, The Journal of Immunology.

[51]  X. Zhang,et al.  Genome-wide RNAi screen of Ca(2+) influx identifies genes that regulate Ca(2+) release-activated Ca(2+) channel activity. , 2006, Proceedings of the National Academy of Sciences of the United States of America.

[52]  J. Kinet,et al.  CRACM1 Is a Plasma Membrane Protein Essential for Store-Operated Ca2+ Entry , 2006, Science.

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

[54]  S. Feske,et al.  A severe defect in CRAC Ca2+ channel activation and altered K+ channel gating in T cells from immunodeficient patients , 2005, The Journal of experimental medicine.

[55]  Tobias Meyer,et al.  STIM Is a Ca2+ Sensor Essential for Ca2+-Store-Depletion-Triggered Ca2+ Influx , 2005, Current Biology.

[56]  B. Little,et al.  Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. , 2005, The Journal of clinical endocrinology and metabolism.

[57]  F. Macian,et al.  NFAT proteins: key regulators of T-cell development and function , 2005, Nature Reviews Immunology.

[58]  S. Wagner,et al.  STIM1, an essential and conserved component of store-operated Ca2+ channel function , 2005, The Journal of cell biology.

[59]  J. Putney,et al.  Store-operated calcium channels. , 2005, Physiological reviews.

[60]  D. Oh,et al.  Calcium oscillations regulate thymocyte motility during positive selection in the three-dimensional thymic environment , 2005, Nature Immunology.

[61]  R. Janssen,et al.  The Same IκBα Mutation in Two Related Individuals Leads to Completely Different Clinical Syndromes , 2004, The Journal of experimental medicine.

[62]  R. Buckley.  Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. , 2004, Annual review of immunology.

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

[64]  V. Flockerzi,et al.  TRPC3 Mediates T-cell Receptor-dependent Calcium Entry in Human T-lymphocytes* , 2003, Journal of Biological Chemistry.

[65]  Heping Cheng,et al.  Dysfunction of store-operated calcium channel in muscle cells lacking mg29 , 2002, Nature Cell Biology.

[66]  Philip Smith,et al.  Identification and characterization of the STIM (stromal interaction molecule) gene family: coding for a novel class of transmembrane proteins. , 2001, The Biochemical journal.

[67]  Y. Ogawa,et al.  Depletion of Ca2+ in the sarcoplasmic reticulum stimulates Ca2+ entry into mouse skeletal muscle fibres , 2001, The Journal of physiology.

[68]  Anjana Rao,et al.  Gene regulation mediated by calcium signals in T lymphocytes , 2001, Nature Immunology.

[69]  Chi A. Ma,et al.  Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia , 2001, Nature Immunology.

[70]  A. Fischer,et al.  X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling , 2001, Nature Genetics.

[71]  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.

[72]  Eric O Long,et al.  Essential role of LAT in T cell development. , 1999, Immunity.

[73]  F. Alt,et al.  Impaired Viability and Profound Block in Thymocyte Development in Mice Lacking the Adaptor Protein SLP-76 , 1998, Cell.

[74]  S. Eliason,et al.  Requirement for the leukocyte-specific adapter protein SLP-76 for normal T cell development. , 1998, Science.

[75]  C. Croce,et al.  GOK: a gene at 11p15 involved in rhabdomyosarcoma and rhabdoid tumor development. , 1997, Cancer research.

[76]  C. Begley,et al.  Molecular cloning of a novel human gene (D11S4896E) at chromosomal region 11p15.5. , 1996, Genomics.

[77]  S. Feske,et al.  Severe combined immunodeficiency due to defective binding of the nuclear factor of activated T cells in T lymphocytes of two male siblings , 1996, European journal of immunology.

[78]  D. Littman,et al.  Altered T cell receptor signaling and disrupted T cell development in mice lacking Itk. , 1995, Immunity.

[79]  A. Fischer,et al.  A primary T-cell immunodeficiency associated with defective transmembrane calcium influx. , 1995, Blood.

[80]  H. Korn,et al.  The calcium current activated by T cell receptor and store depletion in human lymphocytes is absent in a primary immunodeficiency. , 1994, The Journal of biological chemistry.

[81]  A. Arnaiz-Villena,et al.  Primary T lymphocyte immunodeficiency associated with a selective impairment of CD2, CD3, CD43 (but not CD28)‐mediated signal transduction , 1994, Clinical and experimental immunology.

[82]  R. Geha,et al.  Molecular basis of a multiple lymphokine deficiency in a patient with severe combined immunodeficiency. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[83]  H. Neijens,et al.  Abnormal Signal Transduction in a Patient with Severe Combined Immunodeficiency Disease , 1991, Pediatric Research.

[84]  R. Geha,et al.  Primary combined immunodeficiency resulting from defective transcription of multiple T-cell lymphokine genes. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[85]  K. Weinberg,et al.  Severe combined immunodeficiency due to a specific defect in the production of interleukin-2. , 1990, The New England journal of medicine.

[86]  N. Flomenberg,et al.  Absence of interleukin 2 production in a severe combined immunodeficiency disease syndrome with T cells , 1990, The Journal of experimental medicine.

[87]  G. Trinchieri,et al.  Fc gamma R(CD16) interaction with ligand induces Ca2+ mobilization and phosphoinositide turnover in human natural killer cells. Role of Ca2+ in Fc gamma R(CD16)-induced transcription and expression of lymphokine genes , 1989, The Journal of experimental medicine.

[88]  M. Cooper,et al.  Primary immunodeficiencies. , 2003, American family physician.

[89]  E. Bruno.  In the Hours , 2011 .

[90]  S. Feske.  CRAC channelopathies , 2009, Pflügers Archiv - European Journal of Physiology.

[91]  T. Hirano,et al.  Essential function for the calcium sensor STIM1 in mast cell activation and anaphylactic responses , 2008, Nature Immunology.

[92]  A. Fischer,et al.  Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation. , 2008, Blood.

[93]  J. Billingsley,et al.  Defective mast cell effector functions in mice lacking the CRACM1 pore subunit of store-operated calcium release–activated calcium channels , 2008, Nature Immunology.

[94]  Douglas R. McDonald,et al.  Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. , 2007, The Journal of allergy and clinical immunology.

[95]  Tobias Meyer,et al.  STIM Is a Ca 2+ Sensor Essential for Ca 2+ -Store-Depletion-Triggered Ca 2+ Influx , 2005 .

[96]  A. Fischer,et al.  A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. , 2003, The Journal of clinical investigation.

[97]  C. Roifman.  Human IL-2 receptor alpha chain deficiency. , 2000, Pediatric research.

[98]  Nayoung Kim,et al.  Phospholipase C- (cid:1) 2 is essential for NK cell cytotoxicity and innate immunity to malignant and virally infected cells , 2022 .