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2. The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
3. Adequate Patient’s Outcome Achieved with Short Immunoglobulin Replacement Intervals in Severe Antibody Deficiencies
4. Complete Factor I Deficiency Due to Dysfunctional Factor I with Recurrent Aseptic Meningo-Encephalitis
5. The Natural History of Children with Severe Combined Immunodeficiency: Baseline Features of the First Fifty Patients of the Primary Immune Deficiency Treatment Consortium Prospective Study 6901
6. MicroRNA-21 in Scleroderma Fibrosis and its Function in TGF-β- Regulated Fibrosis-Related Genes Expression
7. A Non-invasive Diagnosis of Histiocytic Necrotizing Lymphadenitis by Means of Gene Expression Profile Analysis of Peripheral Blood Mononuclear Cells
8. Characterization of Th1- and Th2-associated Chemokine Receptor Expression in Spleens of Patients with Immune Thrombocytopenia
9. The Possible Roles of OPN-Regulated CEACAM1 Expression in Promoting the Survival of Activated T Cells and the Apoptosis of Oral Keratinocytes in Oral Lichen Planus Patients
10. Active Immunological Profile Is Associated with Systemic Sjögren’s Syndrome
11. Allogeneic Haematopoietic Stem Cell Transplantation as Therapy for Chronic Granulomatous Disease—Single Centre Experience
12. Association of Graves’ Disease and Prevalence of Circulating IFN-γ-producing CD28− T Cells
13. Phenotype–Genotype Analysis of Cryopyrin-Associated Periodic Syndromes (CAPS): Description of a Rare Non-Exon 3 and a Novel CIAS1 Missense Mutation
14. Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1
15. Mechanisms of Sustained Neutrophilia in Patient WHIM-09, Cured of WHIM Syndrome by Chromothripsis
16. Chronic Diarrhea in Common Variable Immunodeficiency: a Case Series and Review of the Literature
17. Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice
18. Modulation of the Interleukin-21 Pathway with Interleukin-4 Distinguishes Common Variable Immunodeficiency Patients with More Non-infectious Clinical Complications
19. Immunodeficiency in Bloom’s Syndrome
20. Multiple Presentations of LRBA Deficiency: a Single-Center Experience
21. Autoimmune Cytopenias and Associated Conditions in CVID: a Report From the USIDNET Registry
22. DOCK8 Deficiency Presenting as an IPEX-Like Disorder
23. Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia
24. Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies
25. Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome
26. Rituximab Restores IFN-γ-STAT1 Function and Ameliorates Disseminated Mycobacterium avium Infection in a Patient with Anti-Interferon-γ Autoantibody
27. Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency
28. Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency
29. Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency
30. A Personalized Diagnostic and Treatment Approach for Macrophage Activation Syndrome and Secondary Hemophagocytic Lymphohistiocytosis in Adults
31. Helicobacter bilis-Associated Suppurative Cholangitis in a Patient with X-Linked Agammaglobulinemia
32. Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome
33. Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations
34. Preferential Reduction of Circulating Innate Lymphoid Cells Type 2 in Patients with Common Variable Immunodeficiency with Secondary Complications Is Part of a Broader Immune Dysregulation
35. Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis
36. Long-Term Outcome of Adenosine Deaminase-Deficient Patients—a Single-Center Experience
37. Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness
38. Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation
39. Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review
40. A Multicentre Study on the Efficacy, Safety and Pharmacokinetics of IqYmune®, a Highly Purified 10% Liquid Intravenous Immunoglobulin, in Patients with Primary Immune Deficiency
41. Two Sides of the Same Coin: Pediatric-Onset and Adult-Onset Common Variable Immune Deficiency
42. Allogeneic Reduced-Intensity Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: a Single-Center Prospective Trial
43. Efficacy and Safety of Human Intravenous Immunoglobulin 10% (Panzyga®) in Patients with Primary Immunodeficiency Diseases: a Two-Stage, Multicenter, Prospective, Open-Label Study
44. Selective IgM Deficiency: Clinical and Laboratory Features of 17 Patients and a Review of the Literature
45. Health-Related Quality of Life in Adult Patients with Common Variable Immunodeficiency Disorders and Impact of Treatment
46. Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases
47. Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency
48. Common Variable Immunodeficiency Caused by FANC Mutations
49. Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN
50. Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood
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