| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection
|
Radwan, Nesrine
|
|
|
40 |
4 |
p. 665-669
|
artikel
|
| 2 |
A New Patient with NOCARH Syndrome Due to CDC42 Defect
|
He, Tingyan
|
|
|
40 |
4 |
p. 571-575
|
artikel
|
| 3 |
BCG-Related Inflammatory Syndromes in Severe Combined Immunodeficiency After TCRαβ+/CD19+ Depleted HSCT
|
Laberko, Alexandra
|
|
|
40 |
4 |
p. 625-636
|
artikel
|
| 4 |
Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation
|
Liu, Ming
|
|
|
40 |
4 |
p. 647-652
|
artikel
|
| 5 |
Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation
|
Moriya, Kunihiko
|
|
|
40 |
4 |
p. 646
|
artikel
|
| 6 |
European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management
|
Brodszki, Nicholas
|
|
|
40 |
4 |
p. 576-591
|
artikel
|
| 7 |
Failure to Prevent Severe Graft-Versus-Host Disease in Haploidentical Hematopoietic Cell Transplantation with Post-Transplant Cyclophosphamide in Chronic Granulomatous Disease
|
Parta, Mark
|
|
|
40 |
4 |
p. 619-624
|
artikel
|
| 8 |
Health-Related Quality of Life and Multidimensional Fatigue Scale in Children with Primary Immunodeficiencies
|
Ridao-Manonellas, Saida
|
|
|
40 |
4 |
p. 602-609
|
artikel
|
| 9 |
Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)
|
Ziaee, Vahid
|
|
|
40 |
4 |
p. 637-642
|
artikel
|
| 10 |
Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum
|
Shin, Junghee J.
|
|
|
40 |
4 |
p. 592-601
|
artikel
|
| 11 |
Infantile Myelofibrosis and Myeloproliferation with CDC42Dysfunction
|
Verboon, Jeffrey M.
|
|
|
40 |
4 |
p. 554-566
|
artikel
|
| 12 |
Management of Chronic Immune Thrombocytopenia and Presumed Autoimmune Hepatitis in a Child with IKAROS Haploinsufficiency
|
Groth, Daniel J.
|
|
|
40 |
4 |
p. 653-657
|
artikel
|
| 13 |
Novel Compound Heterozygote Variations in FADD Identified to Cause FAS-Associated Protein with Death Domain Deficiency
|
Kohn, Lisa A.
|
|
|
40 |
4 |
p. 658-661
|
artikel
|
| 14 |
Novel Pathogenic C2 Variant Associated with Disseminated GBS Infection
|
Phillips, Emma C.
|
|
|
40 |
4 |
p. 662-664
|
artikel
|
| 15 |
Systemic Inflammation and Myelofibrosis in a Patient withTakenouchi-Kosaki Syndrome due to CDC42 Tyr64CysMutation
|
Bucciol, Giorgia
|
|
|
40 |
4 |
p. 567-570
|
artikel
|
| 16 |
The Growing Spectrum of Human Diseases Caused by InheritedCDC42 Mutations
|
Su, Helen C.
|
|
|
40 |
4 |
p. 551-553
|
artikel
|
| 17 |
The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation
|
Moriya, Kunihiko
|
|
|
40 |
4 |
p. 643-645
|
artikel
|
| 18 |
Urogenital Abnormalities in Adenosine Deaminase Deficiency
|
Pajno, Roberta
|
|
|
40 |
4 |
p. 610-618
|
artikel
|
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