| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Cross-Sectional Study of Health-Related Quality of Life in Patients with Predominantly Antibody Deficiency
|
Elmoursi, Ahmed
|
|
|
44 |
8 |
|
artikel
|
| 2 |
Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency—Centromeric Instability—Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study
|
Berghuis, Dagmar
|
|
|
44 |
8 |
|
artikel
|
| 3 |
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries
|
Huynh, Aimee
|
|
|
44 |
8 |
|
artikel
|
| 4 |
Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency
|
Utsumi, Takanori
|
|
|
44 |
8 |
|
artikel
|
| 5 |
De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia
|
Shu, Zhou
|
|
|
44 |
8 |
|
artikel
|
| 6 |
Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease
|
León-Lara, Ximena
|
|
|
44 |
8 |
|
artikel
|
| 7 |
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans
|
Azizoglu, Zehra Busra
|
|
|
44 |
8 |
|
artikel
|
| 8 |
Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency
|
Ying, Wenjing
|
|
|
44 |
8 |
|
artikel
|
| 9 |
Expanding the Clinical Phenotype of Autosomal Recessive Chronic Granulomatous Disease
|
Chester, Jennifer G.
|
|
|
44 |
8 |
|
artikel
|
| 10 |
Expanding the Clinical Phenotype with CD79A Mutation and Refractory Helicobacter Bilis Infection
|
Sil, Archan
|
|
|
44 |
8 |
|
artikel
|
| 11 |
Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation
|
Triaille, Clément
|
|
|
44 |
8 |
|
artikel
|
| 12 |
Hypogammaglobulinemia and Infection Events in Patients with Autoimmune Diseases Treated with Rituximab: 10 Years Real-Life Experience
|
Nie, Yuxue
|
|
|
44 |
8 |
|
artikel
|
| 13 |
Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations
|
Lei, Wei-Te
|
|
|
44 |
8 |
|
artikel
|
| 14 |
Insights into Patient Experiences with Facilitated Subcutaneous Immunoglobulin Therapy in Primary Immune Deficiency: A Prospective Observational Cohort
|
Yalcin Gungoren, Ezgi
|
|
|
44 |
8 |
|
artikel
|
| 15 |
Interferon Alpha Therapy in MSMD
|
Iyengar, Vaishnavi V.
|
|
|
44 |
8 |
|
artikel
|
| 16 |
Long-Term Safety of Facilitated Subcutaneous Immunoglobulin 10% Treatment in US Clinical Practice in Patients with Primary Immunodeficiency Diseases: Results from a Post-Authorization Safety Study
|
Rubinstein, Arye
|
|
|
44 |
8 |
|
artikel
|
| 17 |
Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia
|
Mehta, Sarah S.
|
|
|
44 |
8 |
|
artikel
|
| 18 |
Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia
|
Vladyka, Ondřej
|
|
|
44 |
8 |
|
artikel
|
| 19 |
Racial Disparities in the Diagnosis of Inborn Errors of Immunity
|
O’Connell, Patrick
|
|
|
44 |
8 |
|
artikel
|
| 20 |
Severe Extrahematopoietic Manifestations in Complete STAT1 LOF after Successful Allogeneic HCT
|
Frieß, Friederike
|
|
|
44 |
8 |
|
artikel
|
| 21 |
The Pathogenic Role of Anti-Granulocyte-Macrophage Colony-Stimulating Factor Autoantibodies in the Nocardiosis with the Central Nervous System Involvement
|
Lo, Yu-Fang
|
|
|
44 |
8 |
|
artikel
|
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