| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation
|
Laberko, Alexandra
|
|
|
43 |
6 |
p. 1241-1249
|
artikel
|
| 2 |
An early-onset SLE patient with a novel paternal inherited BACH2 mutation
|
Zhou, Lina
|
|
|
43 |
6 |
p. 1367-1378
|
artikel
|
| 3 |
A New Patient with p40phox Deficiency and Chronic Immune Thrombocytopenia
|
Neehus, Anna-Lena
|
|
|
43 |
6 |
p. 1173-1177
|
artikel
|
| 4 |
A Novel Mutation Leading to Wiskott-Aldrich Syndrome in an Ethiopian Boy: a Case Report and a Review of Literature
|
Alemayehu, Tinsae
|
|
|
43 |
6 |
p. 1272-1277
|
artikel
|
| 5 |
A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA
|
Hernandez-Trujillo, Vivian
|
|
|
43 |
6 |
p. 1468-1477
|
artikel
|
| 6 |
A Toolkit for Monitoring Immunoglobulin G Levels from Dried Blood Spots of Patients with Primary Immunodeficiencies
|
Haberstroh, Hanna
|
|
|
43 |
6 |
p. 1185-1192
|
artikel
|
| 7 |
Autoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 Pneumonia
|
Philippot, Quentin
|
|
|
43 |
6 |
p. 1093-1103
|
artikel
|
| 8 |
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency
|
Verma, Nisha
|
|
|
43 |
6 |
p. 1137-1138
|
artikel
|
| 9 |
Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III
|
Kahraman, Ayca Burcu
|
|
|
43 |
6 |
p. 1250-1258
|
artikel
|
| 10 |
Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease
|
Lee, Wen-I.
|
|
|
43 |
6 |
p. 1455-1467
|
artikel
|
| 11 |
CTLA4-Ig Effectively Controls Clinical Deterioration and Immune Condition in a Murine Model of Foxp3 Deficiency
|
Gerbaux, Margaux
|
|
|
43 |
6 |
p. 1393-1402
|
artikel
|
| 12 |
Dysregulated Lymphocyte Antigen Receptor Signaling in Common Variable Immunodeficiency with Granulomatous Lymphocytic Interstitial Lung Disease
|
Lui, Victor G.
|
|
|
43 |
6 |
p. 1311-1325
|
artikel
|
| 13 |
Facilitated Subcutaneous Immunoglobulin Treatment in Patients with Immunodeficiencies: the FIGARO Study
|
Borte, Michael
|
|
|
43 |
6 |
p. 1259-1271
|
artikel
|
| 14 |
Fecal Immunoglobulin Levels as a Modifier of the Gut Microbiome in Patients with Common Variable Immunodeficiency
|
Nöltner, Christina
|
|
|
43 |
6 |
p. 1208-1220
|
artikel
|
| 15 |
First Use of Thymus Transplantation in PAX1 Deficiency
|
Kreins, Alexandra Y.
|
|
|
43 |
6 |
p. 1127-1130
|
artikel
|
| 16 |
Gain-of-function of MEFV Mutation Causes Very Early Onset Inflammatory Bowel Disease
|
Wang, Qintao
|
|
|
43 |
6 |
p. 1165-1169
|
artikel
|
| 17 |
Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia
|
Tan, Ryan
|
|
|
43 |
6 |
p. 1139-1142
|
artikel
|
| 18 |
Immune Response Against SARS-CoV-2 Infection and Vaccination in a CD8α-Deficient Patient
|
Arroyo-Sánchez, Daniel
|
|
|
43 |
6 |
p. 1072-1074
|
artikel
|
| 19 |
Immune Responses 6 Months After mRNA-1273 COVID-19 Vaccination and the Effect of a Third Vaccination in Patients with Inborn Errors of Immunity
|
van Leeuwen, Leanne P. M.
|
|
|
43 |
6 |
p. 1104-1117
|
artikel
|
| 20 |
Impaired Response to Polysaccharide Vaccine in Selective IgE Deficiency
|
Noonan, Emily
|
|
|
43 |
6 |
p. 1448-1454
|
artikel
|
| 21 |
Inborn Error of STAT2-Dependent IFN-I Immunity in a Patient Presented with Hemophagocytic Lymphohistiocytosis and Multisystem Inflammatory Syndrome in Children
|
López-Nevado, Marta
|
|
|
43 |
6 |
p. 1278-1288
|
artikel
|
| 22 |
Inborn Errors of Immunity in Hidradenitis Suppurativa Pathogenesis and Disease Burden
|
Colvin, Annelise
|
|
|
43 |
6 |
p. 1040-1051
|
artikel
|
| 23 |
Increased Plasma Levels of Triglyceride-Enriched Lipoproteins Associate with Systemic Inflammation, Lipopolysaccharides, and Gut Dysbiosis in Common Variable Immunodeficiency
|
Macpherson, Magnhild E.
|
|
|
43 |
6 |
p. 1229-1240
|
artikel
|
| 24 |
Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options
|
Rodari, Marco M.
|
|
|
43 |
6 |
p. 1403-1413
|
artikel
|
| 25 |
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study
|
Frémond, Marie-Louise
|
|
|
43 |
6 |
p. 1436-1447
|
artikel
|
| 26 |
JAKi Salvage Therapy Followed by Curative Cord Blood Transplantation in a XIAP-Deficient Infant with Relapsing HLH
|
Maccari, Maria Elena
|
|
|
43 |
6 |
p. 1178-1181
|
artikel
|
| 27 |
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences
|
Ott, Nils
|
|
|
43 |
6 |
p. 1326-1359
|
artikel
|
| 28 |
Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH1
|
Kida, Yoshiko
|
|
|
43 |
6 |
p. 1143-1146
|
artikel
|
| 29 |
MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development
|
Voit, Richard A.
|
|
|
43 |
6 |
p. 1052-1066
|
artikel
|
| 30 |
Monoclonal Antibodies for COVID-19 in X-linked Agammaglobulinemia: a Case Series
|
Simard, Marie-Lee
|
|
|
43 |
6 |
p. 1067-1071
|
artikel
|
| 31 |
Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine
|
Li, Wenhui
|
|
|
43 |
6 |
p. 1193-1207
|
artikel
|
| 32 |
Nomogram for Predicting Early Mortality after Umbilical Cord Blood Transplantation in Children with Inborn Errors of Immunity
|
Wang, Ping
|
|
|
43 |
6 |
p. 1379-1392
|
artikel
|
| 33 |
Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease
|
Zhang, Liang
|
|
|
43 |
6 |
p. 1131-1133
|
artikel
|
| 34 |
Novel Functional Assay to Characterize Mutations in Alternative Pathway of Complement
|
Gerber, Gloria F.
|
|
|
43 |
6 |
p. 1134-1136
|
artikel
|
| 35 |
Novel NF-kappa B Inhibitor Alpha Gain-of-Function Variant in an Infant with Lymphocytosis and Recurrent Serratia Bacteremia
|
Gunderman, Lauren M.
|
|
|
43 |
6 |
p. 1122-1126
|
artikel
|
| 36 |
Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency
|
Sundaram, Kruthika
|
|
|
43 |
6 |
p. 1159-1164
|
artikel
|
| 37 |
Perceived Sleep Quality in Individuals with Inborn Errors of Immunity
|
Sowers, Kerri L.
|
|
|
43 |
6 |
p. 1221-1228
|
artikel
|
| 38 |
Persistent SARS-CoV-2 PCR Positivity Despite Anti-viral Treatment in Immunodeficient Patients
|
Chan, Michele
|
|
|
43 |
6 |
p. 1083-1092
|
artikel
|
| 39 |
Predominant Antibody Deficiency and Risk of Microscopic Colitis: a Nationwide Case–Control Study in Sweden
|
DiGiacomo, Daniel V.
|
|
|
43 |
6 |
p. 1426-1435
|
artikel
|
| 40 |
Prolonged Remission of Azole-Resistant Lung Aspergillosis with Olorofim, in an Adolescent with X-Linked Chronic Granulomatous Disease
|
Michel, Victor
|
|
|
43 |
6 |
p. 1170-1172
|
artikel
|
| 41 |
Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home
|
Al-Saud, Bandar
|
|
|
43 |
6 |
p. 1360-1366
|
artikel
|
| 42 |
SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants
|
Lindahl, Hannes
|
|
|
43 |
6 |
p. 1075-1082
|
artikel
|
| 43 |
STAT1 Gain-of-Function Leading to Clinical Behçet’s Syndrome
|
Aluri, Jahnavi
|
|
|
43 |
6 |
p. 1155-1158
|
artikel
|
| 44 |
Steroid-Responsive Pulmonary Hypertension in a Pediatric Patient with Chronic Granulomatous Disease and Histoplasmosis
|
Fogel, Leslie A.
|
|
|
43 |
6 |
p. 1118-1121
|
artikel
|
| 45 |
Subcutaneous Immunoglobulin 16.5% (Cutaquig®) in Primary Immunodeficiency Disease: Safety, Tolerability, Efficacy, and Patient Experience with Enhanced Infusion Regimens
|
Gupta, Sudhir
|
|
|
43 |
6 |
p. 1414-1425
|
artikel
|
| 46 |
Successful Rezafungin Treatment of an Azole-Resistant Chronic Mucocutaneous Candidiasis in a STAT-1 Gain-of-Function Patient
|
Melenotte, Cléa
|
|
|
43 |
6 |
p. 1182-1184
|
artikel
|
| 47 |
The Clinical Significance and Prognostic Role of Whole-Blood Epstein-Barr Virus DNA in Lymphoma-Associated Hemophagocytic Lymphohistiocytosis
|
Zhang, Jing
|
|
|
43 |
6 |
p. 1302-1310
|
artikel
|
| 48 |
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation
|
Staus, Paulina
|
|
|
43 |
6 |
p. 1289-1301
|
artikel
|
| 49 |
The Impact of the Russian Invasion on Healthcare of Patient with Inborn Errors of Immunity and on the Professional Activity of Immunologists in Ukraine
|
Boyarchuk, Oksana
|
|
|
43 |
6 |
p. 1152-1154
|
artikel
|
| 50 |
“The Regimental Pediatrician”: My Training and Debut in Boden
|
Kostmann, Rolf
|
|
|
43 |
6 |
p. 1033-1039
|
artikel
|
| 51 |
Whole Exome Sequencing Reveals Pathogenic Variants in ADA2 and FAS Causing DADA2 and ALPS
|
Ahn, Terrie S.
|
|
|
43 |
6 |
p. 1147-1151
|
artikel
|
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