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 |