| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
22 Abatacept in the treatment of common variable immunodeficiency with cytotoxic T lymphocyte antigen-4 haploinsufficiency in patient with comorbid systemic lupus erythematosus
|
Holman, Alexis
|
|
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262 |
S |
p.
|
artikel
|
| 2 |
66 Abnormal TRECs and transient lymphopenia associated with Twin anemia polycythemia sequence
|
Bai, Tianyu
|
|
|
262 |
S |
p.
|
artikel
|
| 3 |
6 A Case of CGD Colitis: Sparing Steroids and Colectomy
|
Nguyen, Victoria
|
|
|
262 |
S |
p.
|
artikel
|
| 4 |
193 A Case of Chronic Rhinosinusitis with Nasal Polyps in a Patient with a Single Heterozygous RNU4ATAC Pathogenic Variant
|
Robertson, Gabrielle
|
|
|
262 |
S |
p.
|
artikel
|
| 5 |
159 A Case of Eosinophilic Fasciitis Successfully Managed with Benralizumab in a Patient with Hypogammaglobulinemia and B-cell Aplasia
|
Abellard, Arabelle
|
|
|
262 |
S |
p.
|
artikel
|
| 6 |
67 A Case of Lamotrigine-Induced Lymphadenopathy
|
Galant-Swafford, Jessica
|
|
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262 |
S |
p.
|
artikel
|
| 7 |
40 A case report description of a patient with CVID and Granulomatous Interstitial Nephritis
|
Salih, Amanda
|
|
|
262 |
S |
p.
|
artikel
|
| 8 |
198 Activated PI3Kδ Syndrome (APDS) associated with G6PD deficiency and reaction to BCG
|
Bardou, Maine
|
|
|
262 |
S |
p.
|
artikel
|
| 9 |
33 Adult-onset Severe Combined Immune Deficiency in a Patient with Cartilage-Hair Hypoplasia
|
Bai, Tianyu
|
|
|
262 |
S |
p.
|
artikel
|
| 10 |
174 Age-associated distribution of TH subsets in blood of LOCID vs CVID patients
|
Perez-Andres, Martin
|
|
|
262 |
S |
p.
|
artikel
|
| 11 |
209 Aggressive immunosuppressive therapy is beneficial early on in reducing autoreactive T cell proliferation in Omenn syndrome/Severe combined immunodeficiency
|
Adu-Gyamfi, Afia
|
|
|
262 |
S |
p.
|
artikel
|
| 12 |
210 A multimorphic variant in ThPOK causes a novel human disease characterized by T cell immune developmental abnormalities, immunodysregulation, atopy, and organ fibrosis
|
Vaseghi-Shanjani, Maryam
|
|
|
262 |
S |
p.
|
artikel
|
| 13 |
39 An educational outreach to identify racial and ethnic disparity awareness in immunodeficiency patient care
|
Hong, Joseph
|
|
|
262 |
S |
p.
|
artikel
|
| 14 |
102 An Observational Cohort Study to Evaluate the Efficacy and Safety of Allogeneic Processed Thymus Tissue-agdc Post-FDA Approval: The Congenital Athymia Patient Registry
|
Sleasman, John
|
|
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262 |
S |
p.
|
artikel
|
| 15 |
142 A non-consanguineous family with hepatic veno-occlusive disease and immunodeficiency
|
Moura, Thais
|
|
|
262 |
S |
p.
|
artikel
|
| 16 |
4 A novel BNLK mutation presenting with hepatopathy and rickets
|
Kose, Hulya
|
|
|
262 |
S |
p.
|
artikel
|
| 17 |
1 A novel CARD9-deficiency mouse model recapitulates chronic CNS candidiasis and identifies defective monocytic-cell responses in immunopathogenesis
|
Vinh, Donald
|
|
|
262 |
S |
p.
|
artikel
|
| 18 |
107 A Novel mutation in proteasomal gene PSMD7 results in activation of NLRP3 inflammasome and potentially predisposes to Necrotizing Fasciitis
|
Kalogerakou, Eirini
|
|
|
262 |
S |
p.
|
artikel
|
| 19 |
36 A Novel Variant in TNFAIP3 Causes A20 Haploinsufficiency
|
Rosenberg, Daniel
|
|
|
262 |
S |
p.
|
artikel
|
| 20 |
180 Anti-IL12 autoantibodies in a teenage girl with multiple recurrent abscesses
|
Reyes, Saul Lugo
|
|
|
262 |
S |
p.
|
artikel
|
| 21 |
34 An Unusual Case of X-linked Agammaglobulinemia Masquerading as CVID
|
Kimura, Nikki
|
|
|
262 |
S |
p.
|
artikel
|
| 22 |
21 A Patient with a Complete STAT1 Deletion with Lymphopenia and Elevated Double Negative T Cells
|
Makkoukdji, Nadia
|
|
|
262 |
S |
p.
|
artikel
|
| 23 |
46 APDS patients with immune complex vasculitis and resolution with leniolisib
|
Doroudchi, Ali
|
|
|
262 |
S |
p.
|
artikel
|
| 24 |
131 A Peculiar Presentation: STAT3 Loss of Function with Recurrent Osteomyelitis and Review of the Literature
|
Bou-Maroun, Laura
|
|
|
262 |
S |
p.
|
artikel
|
| 25 |
112 A Pediatric Case of RAG1 Deficiency Caused by Novel Variants: From Diagnosis to Bone Marrow Transplant and Immune Reconstitution
|
Desai, Shreena
|
|
|
262 |
S |
p.
|
artikel
|
| 26 |
151 A Primary Neurological Presentation of CASP-8 Deficiency State
|
Mueller, Karl
|
|
|
262 |
S |
p.
|
artikel
|
| 27 |
197 A Quality Improvement Approach for Transition of Immunodeficiency Patients to Adult Healthcare
|
Raje, Nikita
|
|
|
262 |
S |
p.
|
artikel
|
| 28 |
122 A Quantitative Approach for Identifying Health Disparities Driving Diagnostic and Treatment Delays in VEO-IBD
|
Salih, Amanda
|
|
|
262 |
S |
p.
|
artikel
|
| 29 |
72 A Rare Clinical Entity: Pediatric Myelofibrosis Associated with Agammaglobulinemia and Vasculitis
|
Farley, Matthew
|
|
|
262 |
S |
p.
|
artikel
|
| 30 |
23 A Role for Immunoglobulin Replacement Therapy in Cystic Fibrosis: A Case Report
|
Areti, Sathya
|
|
|
262 |
S |
p.
|
artikel
|
| 31 |
60 Assessing hyaluronidase-facilitated subcutaneous immunoglobulin 20% (fSCIG 20%) pharmacokinetics, safety and tolerability in primary immunodeficiency diseases: phase 2/3 study design
|
LWasserman, Richard
|
|
|
262 |
S |
p.
|
artikel
|
| 32 |
145 Assessing MEFV variant pathogenicity by ASC- Specks Flow Detection
|
Monjarret, Blandine
|
|
|
262 |
S |
p.
|
artikel
|
| 33 |
171 Assessment and Characterization of Tbet+ B Cells in Various Inborn Errors of Immunity (IEIs)
|
Ujhazi, Boglarka
|
|
|
262 |
S |
p.
|
artikel
|
| 34 |
45 Assessment of TREC-based NBS SCID reporting practices for harmonization of results and interpretation: a global survey
|
Kistler, Isaac
|
|
|
262 |
S |
p.
|
artikel
|
| 35 |
208 A Subtle Clinical Presentation of LAD1 Deficiency
|
Jeanpierre, Latoya
|
|
|
262 |
S |
p.
|
artikel
|
| 36 |
127 Autoimmune Lymphoproliferative Syndrome or Autoimmune Lymphoproliferative Syndrome-Like? Why the Genetic Distinction Matters
|
Nguyen, Delena
|
|
|
262 |
S |
p.
|
artikel
|
| 37 |
168 Autoimmunity and neoplasia in a cohort of adult patients with inborn errors of immunity and the implications of having a positive molecular diagnosis
|
Arroyo-Rodenas, Javier
|
|
|
262 |
S |
p.
|
artikel
|
| 38 |
37 A 2-year-old male with humoral deficiency and BACH2 variant
|
Chuleerarux, Nipat
|
|
|
262 |
S |
p.
|
artikel
|
| 39 |
91 Beyond IgG Levels: Assessing Pneumococcal Vaccine Response with Multiplexed Opsonophagocytosis Assay
|
Alkotob, Shifaa
|
|
|
262 |
S |
p.
|
artikel
|
| 40 |
211 Biallelic null mutations in PPM1D cause a novel combined immunodeficiency with severe neurodevelopmental defects
|
Sole, Ana Esteve
|
|
|
262 |
S |
p.
|
artikel
|
| 41 |
103 Biallelic OSMR deficiency causes a novel primary atopic disorder
|
Samra, Simran
|
|
|
262 |
S |
p.
|
artikel
|
| 42 |
163 Biallelic splice variants in NHEJ1 deficiency causing primary hematologic and oncologic manifestations: A Tale of Two Patients
|
Weinstock, Nadav
|
|
|
262 |
S |
p.
|
artikel
|
| 43 |
130 Biologic Use and Outcomes in CVID Enteropathy
|
Ho, Hsi-en
|
|
|
262 |
S |
p.
|
artikel
|
| 44 |
16 Bone marrow damage in patients with Adenosine Deaminase 2 Deficiency
|
Miano, Maurizio
|
|
|
262 |
S |
p.
|
artikel
|
| 45 |
137 Case of Mitochondrial Encephalomyopathy Secondary to COVID-19 in a Pediatric Case of SIFD Syndrome with a Novel TRNT1 Mutation
|
Schutt, Madeline
|
|
|
262 |
S |
p.
|
artikel
|
| 46 |
178 Case Study: IgG deficient patient receiving immune globulin intravenous, human-slra 10% demonstrates improvement in quality of life
|
Miller, Christine
|
|
|
262 |
S |
p.
|
artikel
|
| 47 |
109 CD8+ T Cells and Monocytes from Children with Secondary Hemophagocytic Lymphohistiocysis (HLH) During Rheumatic Disease Share Transcriptional Changes with Other Forms HLH and Inflammatory Diseases
|
Canny, Susan
|
|
|
262 |
S |
p.
|
artikel
|
| 48 |
170 Celiac disease in selective IgA deficiency patients is associated with T-cell defects
|
Perez-Andres, Martin
|
|
|
262 |
S |
p.
|
artikel
|
| 49 |
200 Characterization of CD4+ T lymphocytes in STAT3-DN hyper-IgE syndrome patients
|
Carrabba, Maria
|
|
|
262 |
S |
p.
|
artikel
|
| 50 |
194 Characterizing a unique B-cell precursor population as a potential diagnostic tool for WHIM syndrome and APDS
|
Blair, Grace
|
|
|
262 |
S |
p.
|
artikel
|
| 51 |
111 Chronic Granulomatous Disease: a clinical or a molecular diagnosis?
|
Peddi, Nikhil Chowdary
|
|
|
262 |
S |
p.
|
artikel
|
| 52 |
177 ClinGen Framework for PIK3CD Variant Classification: Use of Adapted ACMG/AMP Guidelines
|
Nieto-Patlán, Alejandro
|
|
|
262 |
S |
p.
|
artikel
|
| 53 |
64 Clinical and functional assessment of a novel PIK3R1 variant in a patient with immunodeficiency
|
Lichtenberger, Frank
|
|
|
262 |
S |
p.
|
artikel
|
| 54 |
32 Clinical and Genetic Findings of >5,300 Individuals Tested via the navigateAPDS Sponsored Genetic Testing Program
|
Campbell, Emily
|
|
|
262 |
S |
p.
|
artikel
|
| 55 |
117 Clinical and Immunologic Phenotype of Prolidase Deficiency
|
Martin, Iris
|
|
|
262 |
S |
p.
|
artikel
|
| 56 |
100 Clinical Characteristics Associated With Mortality Among Patients With Congenital Athymia Treated With Allogeneic Processed Thymus Tissue-agdc
|
Wu, Eveline
|
|
|
262 |
S |
p.
|
artikel
|
| 57 |
63 Clinical Roadmap for Implementing Results from Electronic Health Records Queries
|
FitzPatrick, Amy
|
|
|
262 |
S |
p.
|
artikel
|
| 58 |
191 CMV-specific adaptive immune response in U.S. Mennonite patients with hypomorphic RAG1 or RAG2 mutations presenting with clinical variability
|
Potts, David Evan
|
|
|
262 |
S |
p.
|
artikel
|
| 59 |
59 Comparison of quality improvement programs relevant in next-generation sequence data analysis
|
Vertelko, Vladislav
|
|
|
262 |
S |
p.
|
artikel
|
| 60 |
185 Complex Acquired Angioedema Case in a 46-Year-Old Emirati Female with a History of Breast Cancer
|
Elkhalifa, Shuayb
|
|
|
262 |
S |
p.
|
artikel
|
| 61 |
94 Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation
|
Riller, Quentin
|
|
|
262 |
S |
p.
|
artikel
|
| 62 |
118 Comprehensive analysis reveals a Neuroimmunological association Induced by oncogenic Hepatitis Viruses
|
Nóbile, Adriel
|
|
|
262 |
S |
p.
|
artikel
|
| 63 |
141 Comprehensive characterization of innate and adaptive immune profile of COVID-19 early convalescent children
|
Palmeira, Patricia
|
|
|
262 |
S |
p.
|
artikel
|
| 64 |
Contents
|
|
|
|
262 |
S |
p.
|
artikel
|
| 65 |
Copyright Page
|
|
|
|
262 |
S |
p.
|
artikel
|
| 66 |
97 C1q Deficiency is an interferonopathy often refractory to Fresh Frozen Plasma
|
Campbell, Julie
|
|
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262 |
S |
p.
|
artikel
|
| 67 |
52 Creation of a multi-institutional, prospective cohort of individuals with inborn errors of immunity
|
DiGiacomo, Daniel
|
|
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262 |
S |
p.
|
artikel
|
| 68 |
99 C-terminal mutants in IRF8 associated with mild natural killer cell deficiency
|
Pedroza, Luis
|
|
|
262 |
S |
p.
|
artikel
|
| 69 |
27 Cytokine panel testing in patients with Granulomatous-lymphocytic Interstitial Lung Disease (GLILD) associated with Common Variable Immunodeficiency (CVID)
|
Jaroenpuntaruk, Valerie
|
|
|
262 |
S |
p.
|
artikel
|
| 70 |
153 Demyelinating CNS Disease: An Unusual Complication of XLA
|
Trotto, Natalie
|
|
|
262 |
S |
p.
|
artikel
|
| 71 |
77 Determining the Immunodeficiency in Patients with Down Syndrome at the University of Miami and Jackson Memorial Health Systems
|
Satnarine, Travis
|
|
|
262 |
S |
p.
|
artikel
|
| 72 |
57 Development and Implementation of the TRIO Health Activated Phosphoinositide 3-kinase Delta Syndrome Characterization and Clinical Outcomes Immunologic Registry (APDS-CHOIR)
|
Hartog, Nicholas
|
|
|
262 |
S |
p.
|
artikel
|
| 73 |
3 Development of the Canadian Inborn Errors of Immunity National Registry (CIEINR)
|
Kalashnikova, Tatiana
|
|
|
262 |
S |
p.
|
artikel
|
| 74 |
195 DHR-based Flow Cytometry Beyond CGD
|
Maddukuri, Chaitanya
|
|
|
262 |
S |
p.
|
artikel
|
| 75 |
187 Diagnostic approach in a young adult with RAG1 variants initially diagnosed with specific antibody deficiency and bronchiectasis
|
Franson, Brady
|
|
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262 |
S |
p.
|
artikel
|
| 76 |
204 Diagnostic Approach to complex Common Variable Immunodeficiency Patient With Phosphoinositide 3-Kinase Catalytic Domain Variant of Uncertain Significance
|
Miller, Rahim
|
|
|
262 |
S |
p.
|
artikel
|
| 77 |
55 Diagnostic utility of the whole blood transcriptome and mucosal microbiome alterations in patients with primary immunodeficiency
|
Cocks, Ben
|
|
|
262 |
S |
p.
|
artikel
|
| 78 |
86 Diagnostic Yield of Targeted Gene Panels in Evaluation of Suspected Immunodeficiency - The Mayo Clinic Experience
|
Freeman, Catherine
|
|
|
262 |
S |
p.
|
artikel
|
| 79 |
167 Differentiating IPEX- like syndrome from other causes of autoimmune enteropathy
|
Chen, Jenny
|
|
|
262 |
S |
p.
|
artikel
|
| 80 |
147 DiGeorge Syndrome with an atypical presentation: Lymphoproliferation and malignancy
|
Ferreira, Janaira
|
|
|
262 |
S |
p.
|
artikel
|
| 81 |
189 Disseminated cryptococcal lymphadenitis in a patient with STAT1 gainof-function: diagnostic and therapeutic challenges
|
Romano, Roberta
|
|
|
262 |
S |
p.
|
artikel
|
| 82 |
148 Disseminated Histoplasmosis in an Adult with STAT1 Mutation
|
Nimri, Sarah
|
|
|
262 |
S |
p.
|
artikel
|
| 83 |
49 Early-Onset Common Variable Immunodeficiency in a Patient with Heterozygous Variants in Interferon Response-Associated Genes TRAF3 and IRF4
|
Le, Kim My
|
|
|
262 |
S |
p.
|
artikel
|
| 84 |
Editorial Board
|
|
|
|
262 |
S |
p.
|
artikel
|
| 85 |
9 Emergence of γδ+ T-cell Acute Leukemia Following Hematopoietic Stem Cell Transplant in a Patient with Nijmegen Breakage Syndrome
|
Cai, Jane
|
|
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262 |
S |
p.
|
artikel
|
| 86 |
164 Enteropathy in Patients with Common Variable Immunodeficiency: A Dutch Cohort Study
|
Juliana, Noah
|
|
|
262 |
S |
p.
|
artikel
|
| 87 |
160 Evolving Clinical Presentation in an Infant with Thrombocytopenia: Insights from a Hispanic Male Baby with Wiskott-Aldrich Syndrome
|
Budhu, Gail
|
|
|
262 |
S |
p.
|
artikel
|
| 88 |
179 Expanded phenotypic presentations in CADINS disease associated with novel CARD11 dominant interfering variants that impact NF-kB and AP-1 signaling
|
Bauman, Bradly
|
|
|
262 |
S |
p.
|
artikel
|
| 89 |
58 Expanding the Phenotype of BCL11B Variants: A Novel Canadian Case Series
|
Wong-Pack, Andrew
|
|
|
262 |
S |
p.
|
artikel
|
| 90 |
69 Expanding the phenotypic spectrum of POP1 mutations: Identifying a child with immunodeficiency and hypereosinophilia
|
Rahman, Rifat
|
|
|
262 |
S |
p.
|
artikel
|
| 91 |
132 Expansion of Tbet+ T and B cells in the lung of hypomorphic Rag1 mice
|
Toth, Marta
|
|
|
262 |
S |
p.
|
artikel
|
| 92 |
134 Exploring Molecular Landscapes and Immunological Dynamics in Glioblastoma: Insights from Oncolytic Virotherapy
|
Barcelos, Pedro
|
|
|
262 |
S |
p.
|
artikel
|
| 93 |
75 Fatal CMV infection in a 2-month-old Infant with STAT1 Loss of Function Mutation
|
Mirza, Aisha
|
|
|
262 |
S |
p.
|
artikel
|
| 94 |
143 Follow up of Cell-Immune Response using CovidCELL DTH skin test in Kidney Transplanted Patients
|
Barrios, Yvelise
|
|
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262 |
S |
p.
|
artikel
|
| 95 |
150 From pancytopenia to hyperleukocytosis, an unexpected presentation of immune reconstitution inflammatory syndrome in an infant with methylmalonic acidemia
|
Sassine, Samuel
|
|
|
262 |
S |
p.
|
artikel
|
| 96 |
28 Genome sequencing identifies unexpected diagnosis for a toddler with persistent infection
|
Orellana, Halyn
|
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262 |
S |
p.
|
artikel
|
| 97 |
74 Getting to the Heart of the Cause: Epidermodysplasia verruciformis in a Patient Born with Transposition of the Great Arteries and Mosaic Turner Syndrome
|
Kimura, Nikki
|
|
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262 |
S |
p.
|
artikel
|
| 98 |
158 Good Syndrome: A Case of Bowel Perforation, Chronic Diarrhea and Clostridium Difficile Colitis Leading to Detection of a Thymoma
|
Abellard, Arabelle
|
|
|
262 |
S |
p.
|
artikel
|
| 99 |
123 Helper T cell immunity in humans with inherited CD4 deficiency
|
Tangye, Stuart
|
|
|
262 |
S |
p.
|
artikel
|
| 100 |
136 Hematopoietic stem cell transplantation for very early onset inflammatory bowel disease caused by IL10RA deficiency – preparation is the key to success
|
Ganesan, Kavitha
|
|
|
262 |
S |
p.
|
artikel
|
| 101 |
43 Heterozygous loss-of-function variant in IKBKB presenting with Streptococcus pneumoniae meningitis and bacteremia
|
Wilson, Bridget
|
|
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262 |
S |
p.
|
artikel
|
| 102 |
65 High Proportion of Vitamin C Deficiency “Scurvy”, in Immunodeficiency Population
|
Lichtenberger, Frank
|
|
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262 |
S |
p.
|
artikel
|
| 103 |
5 How do non-infectious presentations begin in patients with Inborn Errors of Immunity?
|
Lobo, David
|
|
|
262 |
S |
p.
|
artikel
|
| 104 |
212 Human ASXL1 Deficiency Causes Epigenetic Dysfunction, Combined Immunodeficiency and EBV–Associated Hodgkin Lymphoma
|
Fu, Maggie
|
|
|
262 |
S |
p.
|
artikel
|
| 105 |
161 Human ITCH E3 Ubiquitin Protein Ligase (ITCH) Deficiency Syndrome Successfully Treated with Hematopoietic Cell Transplant (HCT)
|
Neal, Emily
|
|
|
262 |
S |
p.
|
artikel
|
| 106 |
56 Hyper IgE Cases with novel genotypes and phenotypes: How Different Do They Present?
|
Sherkat, Roya
|
|
|
262 |
S |
p.
|
artikel
|
| 107 |
89 Hypogammaglobulinemia, Lymphocytopenia and Recurrent Septicemia in Schimke Immuno-Osseous Dysplasia: a case report
|
Tay, Joselyn Ye
|
|
|
262 |
S |
p.
|
artikel
|
| 108 |
214 ICOS Agonist Vopratelimab Modulates Follicular Helper T Cells and Improves B Cell Function in Common Variable Immunodeficiency
|
Sepahi, Ali
|
|
|
262 |
S |
p.
|
artikel
|
| 109 |
35 Identification of a novel XIAP pathogenic variant associated with XIAP deficiency presenting as VEOIBD
|
Schloss, Katheryn
|
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262 |
S |
p.
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artikel
|
| 110 |
172 Identification of TNFa-Related Biomarkers in Patients and Carriers with Adenosine Deaminase 2 Deficiency (DADA2)
|
Brittain, Alison
|
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|
262 |
S |
p.
|
artikel
|
| 111 |
213 IKAROS negatively regulate memory T cell formation in humans
|
Tagirasa, Ravichandra
|
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|
262 |
S |
p.
|
artikel
|
| 112 |
175 Immune response after anti-SARS-CoV-2 mRNA repeated boosters vaccination in patients with Common Variable Immunodeficiency
|
Carrabba, Maria
|
|
|
262 |
S |
p.
|
artikel
|
| 113 |
31 Immunizing Impaired Immunity: Viral Vaccination Rates in CVID
|
Wonnaparhown, Alex
|
|
|
262 |
S |
p.
|
artikel
|
| 114 |
8 Impact of plasma collection date on antibodies to SARS-CoV-2 in intravenous immunoglobulin
|
Paddick, Martyn
|
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|
262 |
S |
p.
|
artikel
|
| 115 |
181 Incidental Diagnosis of NFKB2 Mutation in Patient with ACTH Deficiency and Low IgA
|
Kartha, Navya
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135 Integrative characterization of the neuroimmunological interactions of Major Depressive Disorder and its intersection with COVID-19
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81 Liver Transplant as Definitive Therapy for Immune Defects Associated with Congenital Disorder of Glycosylation Type 1 B
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169 Long Term Management of Transplanted Patients with Chronic Granulomatous Disease, Wiskott-Aldrich Syndrome, and Primary Immune Regulatory Disorders: A PIDTC Survey
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13 Long-Term Medical Management of Patients with Chronic Granulomatous Disease, Wiskott-Aldrich Syndrome, and Primary Immune Regulatory Disorders: A Primary Immune Deficiency Treatment Consortium Survey
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2 Maternal and neonate outcomes following exposure to hyaluronidase-facilitated subcutaneous immunoglobulin 10% during pregnancy: a retrospective case series based on US claims data
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20 Multi-Year Registry Study of Elapegademase-lvlr Treatment in Patients with Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy (ERT)
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149 Mycobacteria Chelonae Panniculitis presenting as Refractory Cellulitis in Patient with Hypogammaglobulinemia
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85 Navigating the Gray Area: Borderline Hemophagocytic Lymphohistiocytosis Criteria and Dilemmas in Diagnosis and Treatment – A Case Report
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154 Neurodevelopmental Outcomes (ND) in Patients with Severe Combined Immunodeficiency (SCID) Following Hematopoietic Cell Transplantation (HCT) in the Era of Newborn Screening. A PIDTC Study
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144 Neutralizing Interferon Lambda 1 Autoantibodies in a Pediatric Patient with Chronic Granulomatous Disease and Colitis
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113 Neutropenia and myelodysplasia without syndromic features in a 5-year-old boy with novel SAMD9 variant
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82 Newborn Screening for Severe Combined Immune Deficiency: The Canadian Landscape
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48 Next-generation sequencing with comprehensive bioinformatics analysis simplifies diagnosis of patients with hereditary angioedema
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76 Novel Hexokinase 1 Genetic Mutation Presenting with Recurrent Fever and Developmental Delay: Possible Insight on the Role of Glucose Metabolism Dysregulation and Autoinflammation
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188 Novel Hypomorphic BTK Variant in X-Linked Agammaglobulinemia of a Kindred
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201 Novel pathogenic MAGT1 variant identified in an adult patient with XMEN disease
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156 Novel SAMD9 variant leading to MIRAGE Syndrome treated with subcutaneous immunoglobulin: a case report
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121 Ocrelizumab induced B-cell depletion in a newborn male
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44 Optimization of care for a patient with Schimke Immuno-Osseous Dysplasia (SIOD)
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24 Overcoming medical and socioeconomic barriers for gene therapyassisted HSCT following prompt recognition of an Artemis-SCID infant
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162 Patient with Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) and Glutaric Aciduria Type 1 (GA1) Successfully treated with delayed Hematopoietic Stem Cell Transplant (HSCT)
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110 Patient with Trisomy 21 and Congenital Chylothorax with Secondary Hypogammaglobulinemia
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104 PD-1 Inhibition with Nivolumab Can Cure EBV-driven Lymphoproliferative Disorders, Avoiding Need for Toxic Allogeneic Bone Marrow Transplantation
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47 Pharmacokinetics, efficacy, and safety of weekly/biweekly dosing of Xembify® in treatment-experienced patients, and loading/maintenance dosing in treatment-naïve patients with primary immunodeficiency
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7 Phase 3 Trial of an Oral CXCR4 Antagonist, Mavorixafor, for Treatment of Patients With WHIM Syndrome: Preliminary Results From Ongoing Open-Label Extension Period of Continuous Mavorixafor Treatment
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87 Phenotypic variability of Circulating Natural Killer Cells in healthy donors
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19 POLD3 deficiency is associated with syndromic severe combined immunodeficiency including neurodevelopmental delay and hearing impairment
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51 Polymicrobial necrotizing pneumonia in a 3-year-old child with nearabsent pneumococcal antibody and mitogen interferon-γ responses
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88 Practical Considerations regarding the Immune Dysregulation and Immunodeficiency in Down Syndrome
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101 Predictive Model for Aiding in Early Common Variable Immunodeficiency Diagnosis
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79 Pre-transplant decision-making among patients with cartilage-hair hypoplasia
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199 Provider Perspectives of Long-Term Follow-Up Care of Patients with Severe Combined Immunodeficiency
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62 Receiving a Diagnosis Improves Patient Reported Health Among Children with Inborn Errors of Immunity
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73 Reconstitution of norovirus-specific T cell responses following hematopoetic stem cell transplantation in patients with inborn errors of immunity and chronic norovirus infection
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10 Replacement therapy with subcutaneous immunoglobulin in 25 patients with humoral immunodeficiencies: adverse effects and evaluation of quality of life
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29 Safety and feasibility of the use of dual cardiac-thymus transplant in a child with cardiac failure requiring heart transplant
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92 Selective IgA Deficiency in a Patient with Susac Syndrome
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203 Seronegative Autoimmune Hepatitis Complicated by Severe Aplastic Anemia
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42 Severe Combined Immunodeficiency Due To A Monoallelic ITPR3 Variant Presenting With Lymphohistiocytosis And Bone Marrow Failure Treated With Myeloablative Hematopoietic Cell Transplantation
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90 Silent Suspects: Drivers of Invasive Pneumococcal Diseases
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11 Successful treatment of immune-mediated sensorineural hearing loss with oral calcineurin inhibitors and intravenous immunoglobulin
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26 Survival and Clinical Outcomes of XLA Patients 55 years or older
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70 The Development of a Cost-Effective and Accurate Screening Method for Diagnosing CD3δ Severe Combined Immune Deficiency
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105 The Molecular and Phenotypic Spectrum of 125 patients with Griscelli Syndrome
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129 The neuroimmune signature induced by HTLV infections
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165 The neuroimmunological network in cancer-induced HPV Infections
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207 The Use of Tofacitinib and Upadacitinib in Very Early Onset IBD
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152 Thymus Hypoplasia in 22q11.2DS (DiGeorge): From Mechanism to Restoration
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61 Time To Diagnosis Matters: Patients With IEI Display Improved Health Status When Diagnosed Early
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18 Tracking Uncertainty in Germline Genetic Testing for Inborn Errors of Immunity: Sources, Attributes, and Resolution of Variants of Uncertain Significance in Over 44,000 Individuals
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146 Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening
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186 Traversing Immunodeficiency Complexity: Profound Ureaplasma infection in Agammaglobulinemia with TCF3 Mutation
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71 Two allelic variants in the SERPING1 gene associated with hereditary angioedema detected in one adult patient without clinical manifestation of the disease. Case report
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98 Unique challenges and unique solutions in hematopoietic stem cell transplantation for rare inborn errors of immunity
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196 Unique Presentation of Mycobacterium haemophilum, Associated with T-cell dysfunction after Nelarabine Administration
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14 Unmasking the Mimic: Cytomegalovirus Pneumonia masquerading as CVID unravels as GATA2 Deficiency with Two Unique Pathological Mutations
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25 Unveiling a Hiccup’s Mishap: A Rare Case of Neuromyelitis Optica
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50 Utilizing an Ethical Lens to Assess a Series of Patients With X-Linked CGD Who Did Not Undergo Hematopoietic Stem Cell Transplant
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38 Young Children With Recurrent Infection and Allergic Background Have Inadequate Baseline Pneumococcal Antibodies
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