P1346
Chronic granulomatous disease: the European experienceProtein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndromeActivation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytesZAP70: a master regulator of adaptive immunityCernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephalyGriscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cellsA newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretionFour new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice siteDeficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndromeIndependent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiencyStructural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patientPartial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in ArtemisSevere combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cellsPolymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damageTransfusion independence and HMGA2 activation after gene therapy of human β-thalassaemiaPrimary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification CommitteePrimary immunodeficiencies: 2009 updateHuman adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafnessGene therapy for severe combined immunodeficiency: are we there yet?Integration of retroviruses: a fine balance between efficiency and dangerThe European rare diseases therapeutic initiative.Cytotoxic granule secretion by lymphocytes and its link to immune homeostasisPhosphorylation of Artemis following irradiation-induced DNA damage.Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndromeMutations in activation-induced cytidine deaminase in patients with hyper IgM syndromeA human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infectionRole of calcineurin-dependent drugs on the immunosuppressive effect induced by the anti-LFA-1 antibody in a fetal intestinal transplantation model in miceGene therapy of human severe combined immunodeficiency (SCID)-X1 diseaseInterleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosisLMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapyAllogeneic hematopoietic stem-cell transplantation for leukocyte adhesion deficiencyPrimary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutationDetection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing
P50
Q21143799-9D0910B0-F1CB-4570-BBCB-F22C691D49FFQ22011161-247B2C24-0024-4DFD-9CD0-09461DF18477Q24290325-E49CAFAF-4EBE-498F-961D-8A8FCAB6ADC7Q24293621-C91EEE1E-EBC1-42E3-9ACB-73DAEE192EF4Q24298360-473B1915-D8C3-4312-BBF9-99C0E7B21707Q24298531-99F54C0C-169E-4D33-BC48-D795747FE8C7Q24302120-7F1FE8E3-6740-47D5-A600-191604655B3AQ24313435-843ADC08-199F-43AA-8F98-A46DEBAEE6A0Q24313947-58BA6431-6DC3-4A53-8DAE-C2D68422C280Q24315614-CE5D3D81-F6F5-4CE2-BF7A-7EA01E8D57DCQ24317069-9FF5CA79-6C95-41F6-8564-6082E94FB297Q24320302-DCDDBCDB-FE27-45DE-A7D5-A6369BB836CDQ24336190-E7561ACB-DFD0-4549-9E35-981125A6E2C6Q24338403-DCB91DA3-594D-4AC3-AB52-433B32C5C97DQ24554368-A41FD132-CE83-4A02-9E5E-B86383F58B3CQ24561574-9FEA6CB7-E625-4335-95D8-18F29E4FE9B5Q24563583-D7397D33-9471-4B1D-A53F-EC2F2466F13AQ24598434-4CBB090B-C280-4828-B752-2F0EA3E77C9EQ24603171-4BAF1920-1D8C-44FA-AA40-1AA0A46E3DE3Q24618997-7CDE0CEF-45F3-45E4-BE50-ED1EA14133F4Q24645726-8565DCA7-81F2-4742-ABE4-BDD2FD8B8DFAQ24654960-F9664B58-3D86-48AB-9EAE-130FE2A7D55AQ24655619-F9183386-3055-48B7-BEAF-2D1524B48D8AQ24680426-3D4849BD-C2E6-42E9-B4B1-AFEFD2D0A4B9Q24809161-13641E4F-7862-488A-A91A-657E524F277BQ24814882-3269EE62-621B-44BC-84DD-31E955F71E4FQ26776499-04F113B1-5245-45D1-AFE8-804574716D56Q27919664-E6C86572-CC3F-40AC-8C76-0A331521C043Q28116212-C0D3D1A7-1441-4A0B-B10E-CE8FAC5A59C5Q28139861-FFCA73E1-F556-4A0E-8867-DCA6D7BECAF6Q28140734-C0950159-76E4-4BD6-A8DA-FB094E033C41Q28141512-5EEF83C2-F633-40F8-B194-0E363C7C73AAQ28143064-BC9A85B2-729D-4F71-AFC0-08A2DFE967FBQ28203548-42C52D5B-CA60-409E-A09F-343ECCB8D52FQ28210584-015F938D-BAA2-48B5-9DAE-29E8DEFDEA43Q28215190-054FF071-F7A5-4225-A95D-FF91F5A41089Q28236907-AF73ED64-2611-43E9-A04D-8ACC372818CBQ28238836-5747518F-6BC0-4AB3-A21D-22053BDF3185Q28246980-9350127A-0709-48EA-863A-7F3FBF8663F3Q28248329-5CFD91AA-ED7D-4CD0-8AFB-FB354871BB35
P50
description
Frans arts
@nl
French physician
@en
French physician
@en-ca
French physician
@en-gb
Prantsusmaa arst
@et
dochtúir Francach
@ga
dokter asal Perancis
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francuski lekarz i immunolog
@pl
französischer Mediziner
@de
medic francez
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name
Alain Fischer
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Alain Fischer
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Alain Fischer
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Alain Fischer
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Alain Fischer
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Alain Fischer
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Alain Fischer
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Alain Fischer
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Alain Fischer
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Alain Fischer
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type
label
Alain Fischer
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Alain Fischer
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Alain Fischer
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Alain Fischer
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Alain Fischer
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Alain Fischer
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Alain Fischer
@fr
Alain Fischer
@hu
Alain Fischer
@nb
Alain Fischer
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prefLabel
Alain Fischer
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Alain Fischer
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Alain Fischer
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Alain Fischer
@de
Alain Fischer
@en
Alain Fischer
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Alain Fischer
@fr
Alain Fischer
@hu
Alain Fischer
@nb
Alain Fischer
@nl
P106
P166
P463
P214
P244
P268
P269
P1412
P1559
Alain Fischer
@fr
P166
P19
P21
P213
0000 0000 0031 9004
P214
P244
n2007183223