| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation
|
Kuehn, Hye Sun
|
|
|
41 |
6 |
p. 1241-1249
|
artikel
|
| 2 |
A Case of Severe Combined Immunodeficiency Missed by Newborn Screening
|
Kitcharoensakkul, Maleewan
|
|
|
41 |
6 |
p. 1352-1355
|
artikel
|
| 3 |
A Family with a Novel CTLA4 Haploinsufficiency Mutation and Neurological Symptoms
|
Grammatikos, Alexandros
|
|
|
41 |
6 |
p. 1411-1416
|
artikel
|
| 4 |
Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation
|
Wehr, Claudia
|
|
|
41 |
6 |
p. 1250-1265
|
artikel
|
| 5 |
A Minimal Parameter Set Facilitating Early Decision-making in the Diagnosis of Hemophagocytic Lymphohistiocytosis
|
Smits, Bas M.
|
|
|
41 |
6 |
p. 1219-1228
|
artikel
|
| 6 |
Anakinra for Treatment of Liver Abscesses in a Patient with a Novel CYBB Variant of Chronic Granulomatous Disease
|
To, Caroline
|
|
|
41 |
6 |
p. 1368-1371
|
artikel
|
| 7 |
A New Missense Mutation in CD79B Leads to Autosomal Recessive Agammaglobulinemia in Two Siblings
|
Genebrier, Steve
|
|
|
41 |
6 |
p. 1356-1360
|
artikel
|
| 8 |
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis
|
Marujo, Filipa
|
|
|
41 |
6 |
p. 1376-1379
|
artikel
|
| 9 |
Atypical Presentation of Severe Fungal Necrotizing Fasciitis in a Patient with X-Linked Agammaglobulinemia
|
Chear, Chai Teng
|
|
|
41 |
6 |
p. 1178-1186
|
artikel
|
| 10 |
Autosomal Recessive ISG15 Deficiency Underlies Type I Interferonopathy with Systemic Lupus Erythematosus and Inflammatory Myositis
|
Al-Mayouf, Sulaiman M.
|
|
|
41 |
6 |
p. 1361-1364
|
artikel
|
| 11 |
Clinical Features of Female Taiwanese Carriers with X-linked Chronic Granulomatous Disease from 2004 to 2019
|
Wu, Chao-Yi
|
|
|
41 |
6 |
p. 1303-1314
|
artikel
|
| 12 |
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations
|
Lugo-Reyes, Saul Oswaldo
|
|
|
41 |
6 |
p. 1291-1302
|
artikel
|
| 13 |
Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3
|
Wu, Chung Wah
|
|
|
41 |
6 |
p. 1420-1423
|
artikel
|
| 14 |
Consensus Middle East and North Africa Registry on Inborn Errors of Immunity
|
Aghamohammadi, Asghar
|
|
|
41 |
6 |
p. 1339-1351
|
artikel
|
| 15 |
Correction to: The Seven STAT3‑Related Hyper‑IgE Syndromes
|
Fadil, Ilham
|
|
|
41 |
6 |
p. 1390
|
artikel
|
| 16 |
Current Spectrum of Infections in Patients with X-Linked Agammaglobulinemia
|
Paccoud, Olivier
|
|
|
41 |
6 |
p. 1266-1271
|
artikel
|
| 17 |
Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders
|
Hargreaves, Chantal E.
|
|
|
41 |
6 |
p. 1315-1330
|
artikel
|
| 18 |
Diagnostic Challenges in Pediatric Hemophagocytic Lymphohistiocytosis
|
Si, Stephanie J.
|
|
|
41 |
6 |
p. 1213-1218
|
artikel
|
| 19 |
Disseminated Tuberculosis in a Patient with Autosomal Recessive p47phox Chronic Granulomatous Disease
|
León-Lara, Ximena
|
|
|
41 |
6 |
p. 1417-1419
|
artikel
|
| 20 |
DOCK2 Deficiency Diagnosed 18 Years After Hematopoietic Stem Cell Transplantation
|
D’Astous-Gauthier, Katherine
|
|
|
41 |
6 |
p. 1400-1402
|
artikel
|
| 21 |
Dramatic Efficacy of Ibrutinib in a Schnitzler Syndrome Case with Indolent Lymphoma
|
Claves, Fabien
|
|
|
41 |
6 |
p. 1380-1383
|
artikel
|
| 22 |
Epstein-Barr Virus–Negative Granulomatous Disease Due to SAP Deficiency
|
Karasawa, Takao
|
|
|
41 |
6 |
p. 1372-1375
|
artikel
|
| 23 |
Evolution of the Human Cytokine Response from Acute Illness to Disease Resolution in SARS-Cov-2 Infection—Implications for Therapeutic Monitoring and Therapeutic Targets
|
Drewett, George P.
|
|
|
41 |
6 |
p. 1162-1164
|
artikel
|
| 24 |
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency
|
Cagdas, Deniz
|
|
|
41 |
6 |
p. 1272-1290
|
artikel
|
| 25 |
Haploidentical Stem Cell Transplant with Post-Transplant Cyclophosphamide in Pediatric Hemophagocytic Lymphohistiocytosis
|
Medina-Valencia, Diego
|
|
|
41 |
6 |
p. 1172-1177
|
artikel
|
| 26 |
Hematopoietic Stem Cell Transplantation Cures Chronic Aichi Virus Infection in a Patient with X-linked Agammaglobulinemia
|
Bucciol, Giorgia
|
|
|
41 |
6 |
p. 1403-1405
|
artikel
|
| 27 |
Humoral Immunodeficiency and Immune Globulin Replacement Therapy (IGRT) Usage in DiGeorge Syndrome
|
Soshnick, Sara H.
|
|
|
41 |
6 |
p. 1208-1212
|
artikel
|
| 28 |
Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency
|
Aydemir, Sezin
|
|
|
41 |
6 |
p. 1406-1410
|
artikel
|
| 29 |
Ledipasvir/Sofosbuvir Eradicates Hepatitis C in an Immunodeficient STAT3-GOF Patient
|
Thalhammer, Julian
|
|
|
41 |
6 |
p. 1365-1367
|
artikel
|
| 30 |
MHC Haplotyping of SARS-CoV-2 Patients: HLA Subtypes Are Not Associated with the Presence and Severity of COVID-19 in the Israeli Population
|
Ben Shachar, Shay
|
|
|
41 |
6 |
p. 1154-1161
|
artikel
|
| 31 |
Neutralizing Autoantibodies to Type I Interferons in COVID-19 Convalescent Donor Plasma
|
Vazquez, Sara E.
|
|
|
41 |
6 |
p. 1169-1171
|
artikel
|
| 32 |
Profiling of T Cell Repertoire in SARS-CoV-2-Infected COVID-19 Patients Between Mild Disease and Pneumonia
|
Chang, Che-Mai
|
|
|
41 |
6 |
p. 1131-1145
|
artikel
|
| 33 |
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants
|
Honda, Yoshitaka
|
|
|
41 |
6 |
p. 1187-1197
|
artikel
|
| 34 |
Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency
|
Kinoshita, Hannah
|
|
|
41 |
6 |
p. 1146-1153
|
artikel
|
| 35 |
SARS-CoV-2 Infection in a Child with Severe Congenital Neutropenia
|
Vignesh, Pandiarajan
|
|
|
41 |
6 |
p. 1165-1168
|
artikel
|
| 36 |
Severe Fatigue Is Common Among Pediatric Patients with Primary Immunodeficiency and Is Not Related to Disease Activity
|
Nijhof, Linde N.
|
|
|
41 |
6 |
p. 1198-1207
|
artikel
|
| 37 |
Skewed TCR Alpha, but not Beta, Gene Rearrangements and Lymphoma Associated with a Pathogenic TRAC Variant
|
Rawat, Amit
|
|
|
41 |
6 |
p. 1395-1399
|
artikel
|
| 38 |
Steady-State Serum IgG Trough Levels Are Adequate for Pharmacokinetic Assessment in Patients with Immunodeficiencies Receiving Subcutaneous Immune Globulin
|
Li, Zhaoyang
|
|
|
41 |
6 |
p. 1331-1338
|
artikel
|
| 39 |
TCF3 Dominant Negative Variant Causes an Early Block in B-Lymphopoiesis and Agammaglobulinemia
|
Al Sheikh, Ebtehal
|
|
|
41 |
6 |
p. 1391-1394
|
artikel
|
| 40 |
The Innate Immune Response Characterizes Posterior Reversible Encephalopathy Syndrome
|
Nelke, Christopher
|
|
|
41 |
6 |
p. 1229-1240
|
artikel
|
| 41 |
The Seven STAT3-Related Hyper-IgE Syndromes
|
Fadil, Ilham
|
|
|
41 |
6 |
p. 1384-1389
|
artikel
|
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