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46 results on '"Freeman, Alexandra F."'

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1. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

2. Perturbations of the T-cell receptor repertoire in response to SARS-CoV-2 in immunocompetent and immunocompromised individuals.

3. Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism

4. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

6. Antibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity

7. Lupus-like autoimmunity and increased interferon response in patients with STAT3-deficient hyper-IgE syndrome

8. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

9. Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder

10. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

12. Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis

13. Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations

14. Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency

15. Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations

16. X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability

17. Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry

18. Dedicator of cytokinesis 8–deficient CD4 + T cells are biased to a T H 2 effector fate at the expense of T H 1 and T H 17 cells

19. TGF-β pathway activation primes naïve lymphocytes to support atopic phenotypes in humans

23. Diminution of signal transducer and activator of transcription 3 signaling inhibits vascular permeability and anaphylaxis

25. Endemic mycoses in patients with STAT3-mutated hyper-IgE (Job) syndrome

26. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

28. Convergence of Clinical and Cellular Phenotypes Among Patients with STAT3 and ERBB2IP Mutations

29. Deficiencies in STAT3 Signaling Confers Resistance to Histamine/PAF Induced Vascular Permeability in Autosomal Dominant-Hyper IgE Syndrome (AD-HIES)

31. Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

32. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

33. Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation

34. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency

37. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

40. Causes of death in hyper-IgE syndrome

41. JAK-STAT signaling pathway, immunodeficiency, inflammation, immune dysregulation, and inborn errors of immunity.

42. Hematopoietic cell transplantation for DOCK8 deficiency: Results from a prospective clinical trial.

43. T H 2-driven manifestations of inborn errors of immunity.

44. Perturbations of the T-cell receptor repertoire in response to SARS-CoV-2 in immunocompetent and immunocompromised individuals.

45. GenIA, the Genetic Immunology Advisor database for inborn errors of immunity.

46. Human T H 9 differentiation is dependent on signal transducer and activator of transcription (STAT) 3 to restrain STAT1-mediated inhibition.

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