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509 results on '"Yagüe Jordi"'

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1. VEXAS Syndrome

2. Disease phenotypes in adult patients with suspected undifferentiated autoinflammatory diseases and PFAPA syndrome: Clinical and therapeutic implications

3. Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome

4. Characterizing Protracted Febrile Myalgia: Fasciitis and Vasculitis of the Fascia and Muscle as Novel Histopathological Features.

5. Immunoparesis defined by heavy/light chain pair suppression in smoldering multiple myeloma shows initial isotype specificity and involves other isotypes in advanced disease

6. Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.

7. Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome

8. Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

9. Development of a Novel Anti-CD19 Chimeric Antigen Receptor: A Paradigm for an Affordable CAR T Cell Production at Academic Institutions

10. Correction to: Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome

11. Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

14. Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences aboutUBA1mosaicism

17. Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist.

23. Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

24. Non-bifurcation of critical periods from semi-hyperbolic polycycles of quadratic centres

25. Inherited biallelic CSF3Rmutations in severe congenital neutropenia

27. Chilblains outbreak during COVID ‐19 pandemic: A Type‐I interferonopathy?

29. Long-Term Responders After Autologous Stem Cell Transplantation in Multiple Myeloma

30. Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

31. First Description of Late‐Onset Autoinflammatory Disease Due to SomaticNLRC4Mosaicism

32. The criticality of reversible quadratic centers at the outer boundary of its period annulus

33. On the cyclicity of Kolmogorov polycycles

38. Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

41. Common variants in NLRP2 and NLRP3 genes are strong prognostic factors for the outcome of HLA-identical sibling allogeneic stem cell transplantation

48. Somatic NOD2 mosaicism in Blau syndrome

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