about
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiencyDOCK8 deficiency impairs CD8 T cell survival and function in humans and miceThe transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to virusesCTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferationZAP70: a master regulator of adaptive immunityHomozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesisImmunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiencyMunc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cellsIRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humansPolymerase 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 damagePyogenic bacterial infections in humans with MyD88 deficiencyHuman adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafnessPrevention of infections during primary immunodeficiencyPyogenic bacterial infections in humans with IRAK-4 deficiencyMutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndromeA survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutationSelective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunityHerpes simplex virus encephalitis in human UNC-93B deficiencyEfficacy of gene therapy for X-linked severe combined immunodeficiencyFAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of functionIgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patientsHuman RHOH deficiency causes T cell defects and susceptibility to EV-HPV infectionsX-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) geneRisk Factors in Children Older than 5 Years with Pneumococcal Meningitis: Data from a National Network.Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients.Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.Rituximab therapy for childhood Evans syndrome.STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunityTartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.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 studyCharacteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome.IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type IORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.Deep dermatophytosis and inherited CARD9 deficiencyPrimary immunodeficiencies underlying fungal infections
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P269
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H-3914-2017
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0000 0004 3083 9181
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1971-01-01T00:00:00Z
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