nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A Novel Combination of Compound Heterozygous Variants in IFNGR1 Causing Complete IFNGR1 Deficiency
|
Labere, Brenna |
|
|
44 |
5 |
|
artikel |
2 |
Assessment of Sleep Disorders in Patients with CVID
|
Punj, Mantavya |
|
|
44 |
5 |
|
artikel |
3 |
Delayed Presentation of IRAK4 Deficiency
|
Sacta, Maria A. |
|
|
44 |
5 |
|
artikel |
4 |
Development of EBV Related Diffuse Large B-cell Lymphoma in Deficiency of Adenosine Deaminase 2 with Uncontrolled EBV Infection
|
Gardner, Logan S. |
|
|
44 |
5 |
|
artikel |
5 |
Expression of full-length FOXP3 exceeds other isoforms in thymus and stimulated CD4 + T cells
|
Kröger, Benita |
|
|
44 |
5 |
|
artikel |
6 |
Fatal Disseminated Hepatitis E in an Adult Patient with IKBKB GOF Mutation
|
Hanitsch, Leif G. |
|
|
44 |
5 |
|
artikel |
7 |
Functional Validation of a COPA Mutation Broadens the Spectrum of COPA Syndrome
|
Kechiche, Robin |
|
|
44 |
5 |
|
artikel |
8 |
Gérard Orth: From Viral to Human Genes Underlying Warts
|
Casanova, Jean-Laurent |
|
|
44 |
5 |
|
artikel |
9 |
Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency
|
Shi, Xiaoqi |
|
|
44 |
5 |
|
artikel |
10 |
Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report
|
Khanmohammadi, Shaghayegh |
|
|
44 |
5 |
|
artikel |
11 |
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)
|
Rossini, Linda |
|
|
44 |
5 |
|
artikel |
12 |
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia
|
Tomomasa, Dan |
|
|
44 |
5 |
|
artikel |
13 |
Monitoring of Adverse Events and Safety in Autoinflammatory Diseases: Real-Life Data from the Eurofever Registry
|
Vyzhga, Yulia |
|
|
44 |
5 |
|
artikel |
14 |
Perspective - Was it All for Nothing?
|
Somech, Raz |
|
|
44 |
5 |
|
artikel |
15 |
Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations
|
Chen, Ran |
|
|
44 |
5 |
|
artikel |
16 |
RAS-associated Autoimmune Leukoproliferative Disease (RALD-KRAS) Consistent with the Clinical Diagnosis of Rosai-Dorfman Disease: A 15-year Follow-up
|
Tang, Yu |
|
|
44 |
5 |
|
artikel |
17 |
Severe Tick-Borne Encephalitis (TBE) in a Patient with X-Linked Agammaglobulinemia; Treatment with TBE Virus IgG Positive Plasma, Clinical Outcome and T Cell Responses
|
Hedin, Wilhelm |
|
|
44 |
5 |
|
artikel |
18 |
T-cell Defects in a Patient with NFKBIA Gene Mutation
|
Wu, Jing |
|
|
44 |
5 |
|
artikel |
19 |
Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency
|
Hicks, Elizabeth Daly |
|
|
44 |
5 |
|
artikel |
20 |
Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia
|
Vakkilainen, Svetlana |
|
|
44 |
5 |
|
artikel |
21 |
Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion
|
Tuna Kırsaçlıoğlu, Ceyda |
|
|
44 |
5 |
|
artikel |