scholarly article | Q13442814 |
P50 | author | Carrie L. Lucas | Q42318188 |
P2093 | author name string | Michael J Lenardo | |
P2860 | cites work | Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II | Q22010404 |
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains | Q24313206 | ||
X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. | Q24539046 | ||
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls | Q24550675 | ||
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage | Q24603171 | ||
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity | Q24632461 | ||
CD28 and CTLA-4 have opposing effects on the response of T cells to stimulation | Q24678846 | ||
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity | Q27183544 | ||
Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy | Q27183550 | ||
Positional cloning of the APECED gene | Q28116470 | ||
Aire deficient mice develop multiple features of APECED phenotype and show altered immune response | Q28202432 | ||
Projection of an immunological self shadow within the thymus by the aire protein | Q28207164 | ||
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4 | Q28247732 | ||
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations | Q28250000 | ||
Genetic and epigenetic fine mapping of causal autoimmune disease variants | Q28649603 | ||
Loss of CTLA-4 leads to massive lymphoproliferation and fatal multiorgan tissue destruction, revealing a critical negative regulatory role of CTLA-4 | Q29619280 | ||
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib | Q33289658 | ||
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity | Q33488225 | ||
STUDIES OF THE ADRENAL ANTIGENS AND ANTIBODIES IN ADDISON'S DISEASE. | Q33950270 | ||
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis | Q33952333 | ||
A human immunodeficiency caused by mutations in the PIK3R1 gene | Q34129000 | ||
Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. | Q34155068 | ||
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency | Q34380652 | ||
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K | Q34452767 | ||
Accounting for eXentricities: analysis of the X chromosome in GWAS reveals X-linked genes implicated in autoimmune diseases | Q34639949 | ||
Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. | Q35212048 | ||
A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease | Q35604700 | ||
NRAS mutation causes a human autoimmune lymphoproliferative syndrome. | Q35829141 | ||
CTLA4 gene polymorphism and autoimmunity | Q36079873 | ||
CTLA-4 is a second receptor for the B cell activation antigen B7 | Q36230356 | ||
The Therapeutic Potential for PI3K Inhibitors in Autoimmune Rheumatic Diseases | Q36286414 | ||
Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome | Q36350966 | ||
Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis | Q36624393 | ||
Clan genomics and the complex architecture of human disease | Q36851578 | ||
A genome-wide association study of myasthenia gravis | Q36869250 | ||
Association of the AIRE gene with susceptibility to rheumatoid arthritis in a European population: a case control study | Q36903321 | ||
Recent progress using systems biology approaches to better understand molecular mechanisms of immunity | Q37325253 | ||
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations | Q37670054 | ||
Twin studies in autoimmune disease: genetics, gender and environment | Q37969302 | ||
A functional polymorphism in fas (CD95/APO-1) gene promoter associated with systemic lupus erythematosus | Q38288149 | ||
The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population | Q39556141 | ||
Genetic analysis of autoimmune disease | Q40980040 | ||
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis | Q44455328 | ||
Novel phosphoinositide 3-kinase δ,γ inhibitor: potent anti-inflammatory effects and joint protection in models of rheumatoid arthritis | Q44768798 | ||
An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. | Q55062928 | ||
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome | Q55670225 | ||
Evaluation of a new Apo-1/Fas promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus patients | Q61863680 | ||
Identification and characterisation of polymorphisms in the promoter region of the human Apo-1/Fas (CD95) gene | Q61863688 | ||
HLA and diabetes | Q71478945 | ||
Autoimmune disease in first-degree relatives of patients with multiple sclerosis. A UK survey | Q73822014 | ||
Association of Fas/APO-1 gene polymorphism with systemic lupus erythematosus in Japanese | Q77989677 | ||
P304 | page(s) | 28-33 | |
P577 | publication date | 2015-10-02 | |
P1433 | published in | Current Opinion in Immunology | Q15752917 |
P1476 | title | Identifying genetic determinants of autoimmunity and immune dysregulation | |
P478 | volume | 37 |
Q47547404 | Epstein-Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency |
Q64949899 | High-throughput identification of noncoding functional SNPs via type IIS enzyme restriction. |
Q37254342 | Regulatory T cells control strain specific resistance to Experimental Autoimmune Prostatitis |
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