| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation
|
van Wijck, Rogier T. A.
|
|
|
43 |
1 |
p. 69-71
|
artikel
|
| 2 |
A Novel RAC2 Mutation Causing Combined Immunodeficiency
|
Zhang, Liang
|
|
|
43 |
1 |
p. 229-240
|
artikel
|
| 3 |
Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review
|
Maccora, Ilaria
|
|
|
43 |
1 |
p. 1-30
|
artikel
|
| 4 |
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population
|
Freund, Tal
|
|
|
43 |
1 |
p. 151-164
|
artikel
|
| 5 |
Correction to: Protein‑losing Enteropathy as a Complication and/or Differential Diagnosis of Common Variable Immunodeficiency
|
Sanges, Sébastien
|
|
|
43 |
1 |
p. 245
|
artikel
|
| 6 |
Correction to: Recurrent Infections in an Ethiopian Boy with Autosomal Recessive Major Histocompatibility Complex Type I Deficiency: a Case Report on a Very Rare Primary Immunodeficiency Disorder and a Review of Principles in Evaluation and Management
|
Alemayehu, Tinsae
|
|
|
43 |
1 |
p. 244
|
artikel
|
| 7 |
Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey
|
Israni, Muskan
|
|
|
43 |
1 |
p. 206-216
|
artikel
|
| 8 |
Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency
|
Darazam, Ilad Alavi
|
|
|
43 |
1 |
p. 217-228
|
artikel
|
| 9 |
De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE-1 Element Insertion Resulting in Chronic Granulomatous Disease
|
Yu, Lang
|
|
|
43 |
1 |
p. 88-100
|
artikel
|
| 10 |
Disseminated BCG Disease in a Patient with Hyper IgE Syndrome due to Dominant-Negative STAT3 Mutation—Case Report
|
Urdinez, Luciano
|
|
|
43 |
1 |
p. 65-68
|
artikel
|
| 11 |
Granulicatella adiacens Bacteremia in Chronic Granulomatous Disease
|
Okai, Masashi
|
|
|
43 |
1 |
p. 85-87
|
artikel
|
| 12 |
Immune Response to SARS-CoV-2 Infections in Children with Secondary Immunodeficiencies
|
Kuczborska, Karolina
|
|
|
43 |
1 |
p. 57-64
|
artikel
|
| 13 |
Improvement of Refractory Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease with Single-Agent Blockade of IL-1β and IL-18
|
Rood, Julia E.
|
|
|
43 |
1 |
p. 101-108
|
artikel
|
| 14 |
Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses
|
Palevski, Dahlia
|
|
|
43 |
1 |
p. 109-122
|
artikel
|
| 15 |
Inherited IRAK-4 Deficiency in Acute Human Herpesvirus-6 Encephalitis
|
Tepe, Zeynep Güneş
|
|
|
43 |
1 |
p. 192-205
|
artikel
|
| 16 |
Long-Term Antibody Response to SARS-CoV-2 in Children
|
Dunay, Gabor A.
|
|
|
43 |
1 |
p. 46-56
|
artikel
|
| 17 |
Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited
|
Allain, Vincent
|
|
|
43 |
1 |
p. 181-191
|
artikel
|
| 18 |
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico
|
Peñafiel Vicuña, Ana Karen
|
|
|
43 |
1 |
p. 123-135
|
artikel
|
| 19 |
Monitoring of Both Humoral and Cellular Immunities Could Early Predict COVID-19 Vaccine Efficacy Against the Different SARS-CoV2 Variants
|
Vogrig, Manon
|
|
|
43 |
1 |
p. 31-45
|
artikel
|
| 20 |
Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy
|
López-Nevado, Marta
|
|
|
43 |
1 |
p. 165-180
|
artikel
|
| 21 |
Recurrent Infections in an Ethiopian Boy with Autosomal Recessive Major Histocompatibility Complex Type I Deficiency: a Case Report on a Very Rare Primary Immunodeficiency Disorder and a Review of Principles in Evaluation and Management
|
Alemayehu, Tinsae
|
|
|
43 |
1 |
p. 241-243
|
artikel
|
| 22 |
Severe Disseminated Mycobacterium kansasii Infection due to Autoantibodies Against IFN-ɣ
|
Pan, Chun
|
|
|
43 |
1 |
p. 76-79
|
artikel
|
| 23 |
SGPL1 Deficiency: Nephrotic Syndrome with Lymphopenia
|
Tran, Paulina
|
|
|
43 |
1 |
p. 72-75
|
artikel
|
| 24 |
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors
|
Borgström, Emilie W.
|
|
|
43 |
1 |
p. 136-150
|
artikel
|
| 25 |
TRECs/KRECs: Beyond the Diagnosis of Severe Combined Immunodeficiency
|
Ramos, Barbara Cristina
|
|
|
43 |
1 |
p. 80-81
|
artikel
|
| 26 |
Wiskott Aldrich Syndrome-2 Caused by Novel Wiskott Aldrich Syndrome Protein–Interacting Protein (WIP) Deficiency Is Associated with Juvenile Myelomonocytic Leukaemia — a Case Report
|
Senthil, Srividhya
|
|
|
43 |
1 |
p. 82-84
|
artikel
|
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