377 results on '"Casanova Jean-Laurent"'
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52. Autoantibodies Neutralizing Type I INFs May Be Associated with Efficacy of Tocilizumab in COVID-19 Pneumonia
53. Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency
54. Correction to: Life-Threatening Enterovirus 71 Encephalitis in Unrelated Children with Autosomal Dominant TLR3 Deficiency
55. Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
56. Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency
57. Low Lymphocytes and IFN-Neutralizing Autoantibodies as Biomarkers of COVID-19 Mortality
58. Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome
59. Autoantibodies Neutralizing Type I Interferons in 20% of COVID-19 Deaths in a French Hospital
60. Life-Threatening Enterovirus 71 Encephalitis in Unrelated Children with Autosomal Dominant TLR3 Deficiency
61. Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency
62. Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy
63. Inborn errors of metabolism underlying primary immunodeficiencies
64. Chronic Granulomatous Disease in Morocco: Genetic, Immunological, and Clinical Features of 12 Patients from 10 Kindreds
65. IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation.
66. Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency.
67. Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency.
68. X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia
69. IL-12Rβ1 Deficiency and Disseminated Mycobacterium tilburgii Disease
70. A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy
71. EVER2 Deficiency is Associated with Mild T-cell Abnormalities
72. Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought
73. Pre-existing Autoantibodies Neutralizing High Concentrations of Type I Interferons in Almost 10% of COVID-19 Patients Admitted to Intensive Care in Barcelona
74. Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome
75. Neutralizing Autoantibodies to Type I Interferons in COVID-19 Convalescent Donor Plasma
76. Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain
77. A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
78. Interferon-β Therapy in a Patient with Incontinentia Pigmenti and Autoantibodies against Type I IFNs Infected with SARS-CoV-2
79. Plasma Exchange to Rescue Patients with Autoantibodies Against Type I Interferons and Life-Threatening COVID-19 Pneumonia
80. Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
81. Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain
82. Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance
83. Distinctive Features of Kawasaki Disease Following SARS-CoV-2 Infection: a Controlled Study in Paris, France
84. IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-2
85. Correction to: IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-2
86. A 1-Year-Old Girl with a Gain-of-Function STAT1 Mutation Treated with Hematopoietic Stem Cell Transplantation
87. Diagnosis of APS-1 in Two Siblings Following Life-Threatening COVID-19 Pneumonia.
88. Lethal Tuberculosis in a Previously Healthy Adult with IL-12 Receptor Deficiency
89. DOCK8 Large Genomic Deletions and Abdominal Vasculitis in Children with Autosomal Recessive hyper-IgE Syndrome
90. IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation
91. Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis
92. Past, Present, and Future of The Journal of Clinical Immunology, the International Journal of Inborn Errors of Immunity
93. Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy
94. A 23-Year Follow-Up of a Patient with Gain-of-Function IkB-Alpha Mutation and Stable Full Chimerism After Hematopoietic Stem Cell Transplantation
95. Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients
96. Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome
97. Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation
98. The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation
99. Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection
100. Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease
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