| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adenosine Deaminase (ADA) Deficiency: Report of Six New Cases and Reappraisal of Cutaneous Hypermelanosis as an Early Feature
|
Sharafian, Samin
|
|
|
42 |
8 |
p. 1618-1621
|
artikel
|
| 2 |
Algerian Registry for Inborn Errors of Immunity in Children: Report of 887 Children (1985–2021)
|
Yagoubi, Abdelghani
|
|
|
42 |
8 |
p. 1660-1671
|
artikel
|
| 3 |
Anaphylaxis to SARS-CoV-2 Vaccines in the Setting of a Nationwide Passive Epidemiological Surveillance Program
|
Toledo-Salinas, Carla
|
|
|
42 |
8 |
p. 1593-1599
|
artikel
|
| 4 |
A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease
|
Migliavacca, Maddalena
|
|
|
42 |
8 |
p. 1742-1747
|
artikel
|
| 5 |
A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease
|
Staels, Frederik
|
|
|
42 |
8 |
p. 1638-1652
|
artikel
|
| 6 |
Chronic Enteroviral Meningoencephalitis in a Patient with Good’s Syndrome Treated with Pocapavir
|
Grammatikos, Alexandros
|
|
|
42 |
8 |
p. 1611-1613
|
artikel
|
| 7 |
Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome
|
Yu, Hsin-Hui
|
|
|
42 |
8 |
p. 1721-1729
|
artikel
|
| 8 |
Correction to: Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies
|
Barranca, Alexis
|
|
|
42 |
8 |
p. 1810
|
artikel
|
| 9 |
Cryptococcus gattii Infection as the Major Clinical Manifestation in Patients with Autoantibodies Against Granulocyte–Macrophage Colony-Stimulating Factor
|
Wang, Shang-Yu
|
|
|
42 |
8 |
p. 1730-1741
|
artikel
|
| 10 |
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
|
Geier, Christoph B.
|
|
|
42 |
8 |
p. 1748-1765
|
artikel
|
| 11 |
Disseminated Cryptococcosis in a Patient with CD40 Ligand Deficiency
|
Françoise, Ugo
|
|
|
42 |
8 |
p. 1622-1625
|
artikel
|
| 12 |
Evaluation of Laboratory and Sonographic Parameters for Detection of Portal Hypertension in Patients with Common Variable Immunodeficiency
|
Globig, Anna-Maria
|
|
|
42 |
8 |
p. 1626-1637
|
artikel
|
| 13 |
First Successful Allogeneic Hematopoietic Stem Cell Transplantation for MKL1 Deficiency
|
Oegema, Sanne
|
|
|
42 |
8 |
p. 1608-1610
|
artikel
|
| 14 |
Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes
|
Chen, Xuemei
|
|
|
42 |
8 |
p. 1778-1794
|
artikel
|
| 15 |
HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions
|
Cook, Sarah
|
|
|
42 |
8 |
p. 1583-1592
|
artikel
|
| 16 |
High Inborn Errors of Immunity Risk in Patients with Granuloma
|
Süleyman, Merve
|
|
|
42 |
8 |
p. 1795-1809
|
artikel
|
| 17 |
Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil
|
Lyra, Paula T.
|
|
|
42 |
8 |
p. 1708-1720
|
artikel
|
| 18 |
Novel CD81 Mutations in a Chinese Patient Led to IgA Nephropathy and Impaired BCR Signaling
|
Yang, Lu
|
|
|
42 |
8 |
p. 1672-1684
|
artikel
|
| 19 |
Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding
|
Zondag, Timo C. E.
|
|
|
42 |
8 |
p. 1685-1695
|
artikel
|
| 20 |
Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease
|
Hui, Xiaoying
|
|
|
42 |
8 |
p. 1614-1617
|
artikel
|
| 21 |
Post-SARS-CoV-2 Atypical Inflammatory Syndrome in a Toddler with X-Linked Inhibitor of Apoptosis Deficiency After Stem Cell Transplant
|
Narahari, Prasanth G.
|
|
|
42 |
8 |
p. 1600-1603
|
artikel
|
| 22 |
Reduced Intensity Conditioning Allogeneic Transplant for SCID Associated with Cartilage Hair Hypoplasia
|
Fitch, Taylor
|
|
|
42 |
8 |
p. 1604-1607
|
artikel
|
| 23 |
SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency
|
Hiwarkar, Prashant
|
|
|
42 |
8 |
p. 1653-1659
|
artikel
|
| 24 |
SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition
|
Michniacki, Thomas F.
|
|
|
42 |
8 |
p. 1766-1777
|
artikel
|
| 25 |
TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan
|
Wakamatsu, Manabu
|
|
|
42 |
8 |
p. 1696-1707
|
artikel
|
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