| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation
|
Sacco, Keith
|
|
|
43 |
2 |
p. 512-520
|
artikel
|
| 2 |
B-cell Immunodeficiency in a Patient with Pearson Syndrome
|
Chen, Yu-Chia
|
|
|
43 |
2 |
p. 335-337
|
artikel
|
| 3 |
CD40LG Triplication Associates with Immune Dysregulation and Exhaustion
|
Santaniemi, Wenny
|
|
|
43 |
2 |
p. 323-326
|
artikel
|
| 4 |
Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling
|
Tuovinen, Elina A.
|
|
|
43 |
2 |
p. 358-370
|
artikel
|
| 5 |
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
|
Mustillo, Peter J.
|
|
|
43 |
2 |
p. 247-270
|
artikel
|
| 6 |
Combination of WFDC2, CHI3L1, and KRT19 in Plasma Defines a Clinically Useful Molecular Phenotype Associated with Prognosis in Critically Ill COVID-19 Patients
|
Ebihara, Takeshi
|
|
|
43 |
2 |
p. 286-298
|
artikel
|
| 7 |
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity
|
Erra, Lorenzo
|
|
|
43 |
2 |
p. 271-285
|
artikel
|
| 8 |
CVID-Associated B Cell Activating Factor Receptor Variants Change Receptor Oligomerization, Ligand Binding, and Signaling Responses
|
Block, Violeta
|
|
|
43 |
2 |
p. 391-405
|
artikel
|
| 9 |
Disseminated Acanthamoeba Infection in a Bone Marrow Transplant Recipient with CTLA-4 Haploinsufficiency
|
Al Dhaheri, Fatima
|
|
|
43 |
2 |
p. 319-322
|
artikel
|
| 10 |
Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency
|
Korol, Cecilia B.
|
|
|
43 |
2 |
p. 406-420
|
artikel
|
| 11 |
Functional STAT3 Deficiency from Co-Localization with SMAD2/3 Can Account for Infective Predisposition and Hyper IgE-like Manifestation in Loeys-Dietz Syndrome
|
Ravikumar, Sharada
|
|
|
43 |
2 |
p. 327-330
|
artikel
|
| 12 |
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study
|
Al-Tamemi, Salem
|
|
|
43 |
2 |
p. 452-465
|
artikel
|
| 13 |
Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients
|
Moundir, Abderrahmane
|
|
|
43 |
2 |
p. 485-494
|
artikel
|
| 14 |
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia
|
Alabbas, Fahad
|
|
|
43 |
2 |
p. 338-349
|
artikel
|
| 15 |
Germline Variant Interpretation in Children with Severe Sepsis
|
Prince, Benjamin T.
|
|
|
43 |
2 |
p. 312-314
|
artikel
|
| 16 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency
|
David, Odeya
|
|
|
43 |
2 |
p. 350-357
|
artikel
|
| 17 |
Interferon-Driven Immune Dysregulation in Common Variable Immunodeficiency–Associated Villous Atrophy and Norovirus Infection
|
Strohmeier, Valentina
|
|
|
43 |
2 |
p. 371-390
|
artikel
|
| 18 |
IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation
|
Gottschalk, Ilona
|
|
|
43 |
2 |
p. 421-439
|
artikel
|
| 19 |
Lentiviral Gene Transfer Corrects Immune Abnormalities in XIAP Deficiency
|
Topal, Joseph
|
|
|
43 |
2 |
p. 440-451
|
artikel
|
| 20 |
MAGT1 Gene Mutation is Associated with Myositis and CD127 Expression Downregulation
|
Chen, Sheng
|
|
|
43 |
2 |
p. 315-318
|
artikel
|
| 21 |
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases
|
Ono, Rintaro
|
|
|
43 |
2 |
p. 466-478
|
artikel
|
| 22 |
Pathogenic Interleukin-10 Receptor Alpha Variants in Humans — Balancing Natural Selection and Clinical Implications
|
Aschenbrenner, Dominik
|
|
|
43 |
2 |
p. 495-511
|
artikel
|
| 23 |
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia
|
Sheikh, Farrukh
|
|
|
43 |
2 |
p. 479-484
|
artikel
|
| 24 |
Safety of mRNA COVID-19 Vaccines in Patients with Inborn Errors of Immunity: an Italian Multicentric Study
|
Milito, Cinzia
|
|
|
43 |
2 |
p. 299-307
|
artikel
|
| 25 |
Serving Underserved Patients with Primary Immune Deficiency Disorders: A Pilot Educational Program for Clinical Fellows
|
Galant-Swafford, Jessica
|
|
|
43 |
2 |
p. 308-311
|
artikel
|
| 26 |
SPENCD Presenting with Evans Phenotype and Clinical Response to JAK1/2 Inhibitors—a Report of 2 Cases
|
Chougule, Akshaya
|
|
|
43 |
2 |
p. 331-334
|
artikel
|
Tijdschrift beschrijving