| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Case Report of Folliculin-Interacting Protein 1 Deficiency
|
Moreno-Corona, Nidia
|
|
|
43 |
8 |
p. 1751-1753
|
artikel
|
| 2 |
A Clinical Conundrum with Diagnostic and Therapeutic Challenge: a Tale of Two Disorders in One Case
|
Gaikwad, Pallavi
|
|
|
43 |
8 |
p. 1891-1902
|
artikel
|
| 3 |
Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers
|
Tsilifis, Christo
|
|
|
43 |
8 |
p. 1964-1973
|
artikel
|
| 4 |
A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency
|
Dzhus, Mariia
|
|
|
43 |
8 |
p. 1916-1926
|
artikel
|
| 5 |
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association
|
Roncareggi, Samuele
|
|
|
43 |
8 |
p. 2192-2207
|
artikel
|
| 6 |
An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation
|
Mou, Wenjun
|
|
|
43 |
8 |
p. 2165-2180
|
artikel
|
| 7 |
An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia
|
Nishimura, Akira
|
|
|
43 |
8 |
p. 1827-1839
|
artikel
|
| 8 |
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity
|
Assing, Kristian
|
|
|
43 |
8 |
p. 1927-1940
|
artikel
|
| 9 |
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis
|
Roussel, Lucie
|
|
|
43 |
8 |
p. 2011-2021
|
artikel
|
| 10 |
Antibody Deficiency in Patients with Biallelic KARS1 Mutations
|
Saettini, Francesco
|
|
|
43 |
8 |
p. 2115-2125
|
artikel
|
| 11 |
APECED Rash as the First Manifestation of APECED Syndrome
|
Ferré, Elise M. N.
|
|
|
43 |
8 |
p. 1774-1777
|
artikel
|
| 12 |
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis
|
Kasap, Nurhan
|
|
|
43 |
8 |
p. 1882-1890
|
artikel
|
| 13 |
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants
|
Takagi, Masatoshi
|
|
|
43 |
8 |
p. 2136-2145
|
artikel
|
| 14 |
Both Humoral and Cellular Immune Responses to SARS-CoV-2 Are Essential to Prevent Infection: a Prospective Study in a Working Vaccinated Population from Southern France
|
Graça, Daisy
|
|
|
43 |
8 |
p. 1724-1739
|
artikel
|
| 15 |
Chronic Granulomatous Disease: a Cohort of 173 Patients—10-Years Single Center Experience from Egypt
|
Abd Elaziz, Dalia
|
|
|
43 |
8 |
p. 1799-1811
|
artikel
|
| 16 |
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population
|
Mousavi Khorshidi, Mohadese Sadat
|
|
|
43 |
8 |
p. 1941-1952
|
artikel
|
| 17 |
Clinical Validation of a Primary Antibody Deficiency Screening Algorithm for Primary Care
|
Messelink, Marianne A.
|
|
|
43 |
8 |
p. 2022-2032
|
artikel
|
| 18 |
Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis
|
Scarpa, Riccardo
|
|
|
43 |
8 |
p. 1903-1915
|
artikel
|
| 19 |
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
|
Saettini, Francesco
|
|
|
43 |
8 |
p. 2126
|
artikel
|
| 20 |
Correction to: Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4‑Dependent Transendocytosis by Flow Cytometry
|
Rojas‑Restrepo, Jessica
|
|
|
43 |
8 |
p. 2090
|
artikel
|
| 21 |
Correction to: Immunologic and Genetic Contributors to CD46‑Dependent Immune Dysregulation
|
Meyer, Benedikt J
|
|
|
43 |
8 |
p. 1857
|
artikel
|
| 22 |
Correction to: Screening for Antibody Deficiencies in Adults by Serum Electrophoresis and Calculated Globulin
|
de Toledo Piza, Cristina Frias Sartorelli
|
|
|
43 |
8 |
p. 1881
|
artikel
|
| 23 |
Disseminated Histoplasmosis in a Brazilian Patient with G6PD Deficiency Caused by Class I Variant
|
Salgado, Ranieri Coelho
|
|
|
43 |
8 |
p. 1796-1798
|
artikel
|
| 24 |
Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT
|
Weitering, T. J.
|
|
|
43 |
8 |
p. 1770-1773
|
artikel
|
| 25 |
Effects of Body Mass and Age on the Pharmacokinetics of Subcutaneous or Hyaluronidase-facilitated Subcutaneous Immunoglobulin G in Primary Immunodeficiency Diseases
|
Li, Zhaoyang
|
|
|
43 |
8 |
p. 2127-2135
|
artikel
|
| 26 |
Enterobacter cloacae, a Rare Cause of Cervical Lymphadenitis in X-Linked Chronic Granulomatous Disease
|
Penner, Cooper
|
|
|
43 |
8 |
p. 1782-1783
|
artikel
|
| 27 |
Evaluating Drug Prescription Patterns in Undiagnosed Common Variable Immunodeficiency Patients
|
Ilkjær, Frederik V.
|
|
|
43 |
8 |
p. 2181-2191
|
artikel
|
| 28 |
Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry
|
Rojas-Restrepo, Jessica
|
|
|
43 |
8 |
p. 2076-2089
|
artikel
|
| 29 |
Haploidentical Stem Cell Transplantation with Post-transplantation Cyclophosphamide in High-Risk Chronic Granulomatous Disease Patient with Invasive Mucormycosis
|
Ruttens, D.
|
|
|
43 |
8 |
p. 1758-1765
|
artikel
|
| 30 |
Hyper-IgD Syndrome: Caused by Deficiency on Ras Prenylation and Trained Immunity?
|
Silva, Rafael Cardoso Maciel Costa
|
|
|
43 |
8 |
p. 1740-1742
|
artikel
|
| 31 |
Identification of a Novel Nonsense Mutation in NFKB1 Causing Common Variable Immunodeficiency with Decreased Tfh Cells
|
Li, Rui
|
|
|
43 |
8 |
p. 1784-1787
|
artikel
|
| 32 |
Immunologic and Genetic Contributors to CD46-Dependent Immune Dysregulation
|
Meyer, Benedikt J
|
|
|
43 |
8 |
p. 1840-1856
|
artikel
|
| 33 |
Inborn Errors of Immunity—the Sri Lankan Experience 2010–2022
|
Dasanayake, Dhanushka
|
|
|
43 |
8 |
p. 1858-1872
|
artikel
|
| 34 |
Infection and Vaccine Induced Spike Antibody Responses Against SARS-CoV-2 Variants of Concern in COVID-19-Naïve Children and Adults
|
Pillay, Aleha
|
|
|
43 |
8 |
p. 1706-1723
|
artikel
|
| 35 |
JAK Inhibition with Baricitinib for Severe CVID-Related Enteropathy: a Case Report
|
Abdelmoumen, Amir
|
|
|
43 |
8 |
p. 1766-1769
|
artikel
|
| 36 |
Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome
|
Berrada, Kenza Rhzioual
|
|
|
43 |
8 |
p. 2156-2164
|
artikel
|
| 37 |
Missed Opportunities to Diagnose Common Variable Immunodeficiency: a Population-Based Case–Control Study Identifying Indicator Diseases for Common Variable Immunodeficiency
|
Dahl, Christina
|
|
|
43 |
8 |
p. 2104-2114
|
artikel
|
| 38 |
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism
|
Batlle-Masó, Laura
|
|
|
43 |
8 |
p. 1953-1963
|
artikel
|
| 39 |
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation
|
Karaaslan, Betul Gemici
|
|
|
43 |
8 |
p. 2062-2075
|
artikel
|
| 40 |
Novel ADA2 Variants in a Romanian Case Series of DADA2
|
Cochino, Alexis Virgil
|
|
|
43 |
8 |
p. 1788-1791
|
artikel
|
| 41 |
Novel IFNGR1 Mutation in a Child with Mycobacterium avium Infection
|
Luo, Qi
|
|
|
43 |
8 |
p. 1778-1781
|
artikel
|
| 42 |
Outcome of Second Allogeneic HSCT for Patients with Inborn Errors of Immunity: Retrospective Study of 20 Years’ Experience
|
Mehta, Priti
|
|
|
43 |
8 |
p. 1812-1826
|
artikel
|
| 43 |
Peripheral T Cell Populations are Differentially Affected in Familial Mediterranean Fever, Chronic Granulomatous Disease, and Gout
|
Al, Burcu
|
|
|
43 |
8 |
p. 2033-2048
|
artikel
|
| 44 |
Phenotypic Variability in PRKCD: a Review of the Literature
|
Jefferson, Lucy
|
|
|
43 |
8 |
p. 1692-1705
|
artikel
|
| 45 |
Proteomic Analysis of Pediatric Hemophagocytic Lymphohistiocytosis: a Comparative Study with Healthy Controls, Sepsis, Critical Ill, and Active Epstein-Barr virus Infection to Identify Altered Pathways and Candidate Biomarkers
|
Li, Xun
|
|
|
43 |
8 |
p. 1997-2010
|
artikel
|
| 46 |
Respiratory Comorbidities Associated with Bronchiectasis in Patients with Common Variable Immunodeficiency in the USIDNET Registry
|
Correa-Jimenez, Oscar
|
|
|
43 |
8 |
p. 2208-2220
|
artikel
|
| 47 |
Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients
|
Tessarin, Giulio
|
|
|
43 |
8 |
p. 2091-2103
|
artikel
|
| 48 |
Screening for Antibody Deficiencies in Adults by Serum Electrophoresis and Calculated Globin
|
de Toledo Piza, Cristina Frias Sartorelli
|
|
|
43 |
8 |
p. 1873-1880
|
artikel
|
| 49 |
Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features
|
Kurita, Daisuke
|
|
|
43 |
8 |
p. 1992-1996
|
artikel
|
| 50 |
Soluble Interleukin-2 Receptor/White Blood Cell Ratio Reflects Granulomatous Disease Progression in Common Variable Immune Deficiency
|
van Stigt, Astrid C.
|
|
|
43 |
8 |
p. 1754-1757
|
artikel
|
| 51 |
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings
|
Cruz, Patricia dela
|
|
|
43 |
8 |
p. 1747-1750
|
artikel
|
| 52 |
Split Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency
|
Sonoda, Motoshi
|
|
|
43 |
8 |
p. 1743-1746
|
artikel
|
| 53 |
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
|
Grombirikova, Hana
|
|
|
43 |
8 |
p. 1974-1991
|
artikel
|
| 54 |
The Immune Status of Patients with 16p11.2 Deletion Syndrome
|
Wang, Laura A.
|
|
|
43 |
8 |
p. 1792-1795
|
artikel
|
| 55 |
“The Regimental Paediatrician”: the New Children’s Hospital
|
Kostmann, Rolf
|
|
|
43 |
8 |
p. 1686-1691
|
artikel
|
| 56 |
“The Regimental Pediatrician”: the Finnish Child Refugees and the Temporary Children’s Hospital
|
Kostmann, Rolf
|
|
|
43 |
8 |
p. 1675-1678
|
artikel
|
| 57 |
“The Regimental Pediatrician”: the Patients and the Work in the Early Years
|
Kostmann, Rolf
|
|
|
43 |
8 |
p. 1679-1685
|
artikel
|
| 58 |
Tocilizumab as a Potential Adjunctive Therapy to Corticosteroids in Cryptococcal Post-infectious Inflammatory Response Syndrome (PIIRS): a Report of Two Cases
|
Hargarten, Jessica C.
|
|
|
43 |
8 |
p. 2146-2155
|
artikel
|
| 59 |
Tuberculosis and Bacillus Calmette-Guérin Disease in Patients with Chronic Granulomatous Disease: an Experience from a Tertiary Care Center in North India
|
Vignesh, Pandiarajan
|
|
|
43 |
8 |
p. 2049-2061
|
artikel
|
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