| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia
|
Scott, Ethan M.
|
|
|
40 |
2 |
p. 321-328
|
artikel
|
| 2 |
ADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes
|
Tanatar, Ayşe
|
|
|
40 |
2 |
p. 253-258
|
artikel
|
| 3 |
A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases
|
Novice, Taylor
|
|
|
40 |
2 |
p. 267-276
|
artikel
|
| 4 |
A Novel, Heterozygous Three Base-Pair Deletion in CARD11 Results in B Cell Expansion with NF-κB and T Cell Anergy Disease
|
Shields, Adrian M.
|
|
|
40 |
2 |
p. 406-411
|
artikel
|
| 5 |
Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID
|
Verhagen, Martijn V.
|
|
|
40 |
2 |
p. 259-266
|
artikel
|
| 6 |
Cytokine Autoantibodies Are Associated with Infection Risk and Self-Perceived Health: Results from the Danish Blood Donor Study
|
von Stemann, Jakob H.
|
|
|
40 |
2 |
p. 367-377
|
artikel
|
| 7 |
Disseminated Pneumocystis jirovecii Infection with Osteomyelitis in a Patient with CTLA-4 Haploinsufficiency
|
Siddiqi, Aminaa E.
|
|
|
40 |
2 |
p. 412-414
|
artikel
|
| 8 |
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype
|
Klinken, Elizabeth M.
|
|
|
40 |
2 |
p. 299-309
|
artikel
|
| 9 |
Efficacy of Dupilumab for Controlling Severe Atopic Dermatitis in a Patient with Hyper-IgE Syndrome
|
Lévy, Romain
|
|
|
40 |
2 |
p. 418-420
|
artikel
|
| 10 |
E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1
|
Wang, Yanping
|
|
|
40 |
2 |
p. 378-387
|
artikel
|
| 11 |
Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency
|
Abolhassani, Hassan
|
|
|
40 |
2 |
p. 277-288
|
artikel
|
| 12 |
Health-Related Quality of Life and Emotional Difficulties in Chronic Granulomatous Disease: Data on Adult and Pediatric Patients from Italian Network for Primary Immunodeficiency (IPINet)
|
Pulvirenti, Federica
|
|
|
40 |
2 |
p. 289-298
|
artikel
|
| 13 |
Human BCL10 Deficiency due to Homozygosity for a Rare Allele
|
Van Den Rym, Ana
|
|
|
40 |
2 |
p. 388-398
|
artikel
|
| 14 |
Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections
|
Perez, Laura
|
|
|
40 |
2 |
p. 359-366
|
artikel
|
| 15 |
Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1
|
Zhong, Linqing
|
|
|
40 |
2 |
p. 350-358
|
artikel
|
| 16 |
Pulmonary Disease Burden in Primary Immune Deficiency Disorders: Data from USIDNET Registry
|
Patrawala, Meera
|
|
|
40 |
2 |
p. 340-349
|
artikel
|
| 17 |
RP-HPLC-ESI-IT Mass Spectrometry Reveals Significant Variations of the Human Salivary Protein Profile Associated with Predominantly Antibody Deficiencies
|
Contini, Cristina
|
|
|
40 |
2 |
p. 329-339
|
artikel
|
| 18 |
Serum Anti-interferon-γ Autoantibody Titer as a Potential Biomarker of Disseminated Non-tuberculous Mycobacterial Infection
|
Yoshizawa, Kazutaka
|
|
|
40 |
2 |
p. 399-405
|
artikel
|
| 19 |
The Many Faces of XMEN Disease, Report of Two Patients with Novel Mutations
|
Hoyos-Bachiloglu, Rodrigo
|
|
|
40 |
2 |
p. 415-417
|
artikel
|
| 20 |
Use of FEF25–75% to Guide IgG Dosing to Protect Pulmonary Function in CVID
|
Hwangpo, Tracy
|
|
|
40 |
2 |
p. 310-320
|
artikel
|
Tijdschrift beschrijving