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                             21 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A deep intronic BTK variant underlies X-linked agammaglobulinemia Tateishi, Shoichiro

44 4 artikel
2 Analysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children Saad, Mai Magdy

44 4 artikel
3 An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect Basu, Suprit

44 4 artikel
4 COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report McDonnell, John

44 4 artikel
5 Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center Alzyoud, Raed

44 4 artikel
6 Mendelian Causes of Autoimmunity: the Lupus Phenotype Tusseau, Maud

44 4 artikel
7 Monozygotic Twins with MAGT1 Deficiency and Epstein–Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report Wang, Jiachen

44 4 artikel
8 Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns Marakhonov, Andrey V.

44 4 artikel
9 Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform Mackeh, Rafah

44 4 artikel
10 Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3 Tsilifis, Christo

44 4 artikel
11 OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers Batlle-Masó, Laura

44 4 artikel
12 Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib Dotta, Laura

44 4 artikel
13 Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity Li, Qifan

44 4 artikel
14 Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment Zhang, Jiahui

44 4 artikel
15 22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features Crockett, Alexis M.

44 4 artikel
16 Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion Karakus, Ibrahim Serhat

44 4 artikel
17 Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF Koh, June-Young

44 4 artikel
18 Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX Rossini, Linda

44 4 artikel
19 Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis Suzuki, Takako

44 4 artikel
20 Suppression of Type I Interferon Signaling in Myeloid Cells by Autoantibodies in Severe COVID-19 Patients Aoki, Ami

44 4 artikel
21 Treatment of Progressive Multifocal Leukoencephalopathy with IL-2 and Mirtazapine Schweitzer, Lorne

44 4 artikel
                             21 gevonden resultaten
 
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