| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A baby girl with TBX1 haploinsufficiency who died after elective cardiac repair surgery due to suspected enteroviral meningitis
|
Almeida, Alana Xavier de
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250 |
S |
p.
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artikel
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| 2 |
Abnormal Dihydrorhodamine Result in a Patient with Diabetes Mellitus, Recurrent Candida Liver Abscesses: Diagnostic Possibilities
|
Elsayed-Ali, Omar
|
|
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250 |
S |
p.
|
artikel
|
| 3 |
Abnormal Newborn Screening for Severe Combined Immunodeficiency due to CD4 T cell lymphopenia associated with Heterozygous FOXN1 Variants in the Forkhead Domain
|
Witt, Bryan
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250 |
S |
p.
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artikel
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| 4 |
A Case of a Relapsing Remitting Macrophage Activating Syndrome After Covid-19 Vaccine In a Teenager with UNC13D Heterozygous Variant of Uncertain Significance
|
Simpson, Jessica
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|
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250 |
S |
p.
|
artikel
|
| 5 |
A Case of Dyskeratosis Congenita: A Unifying Diagnosis for a Patient with Agammaglobulinemia
|
Dittus, Mitchell
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250 |
S |
p.
|
artikel
|
| 6 |
ACase of GATA2 Deficiency with Pancytopenia and Recurrent Infections: To Transplant or Not to Transplant?
|
Abellard, Arabelle
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250 |
S |
p.
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artikel
|
| 7 |
A Case of Pneumocystis jirovecii Pneumonia in an Infant with Ataxia-Pancytopenia Syndrome
|
Shah, Isma
|
|
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250 |
S |
p.
|
artikel
|
| 8 |
A Case of X-Linked Moesin-Associated Immune Deficiency in a Pediatric Patient
|
Zabalo, Celisse
|
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250 |
S |
p.
|
artikel
|
| 9 |
A chromosomal deletion leading to BACH2 haploinsufficiency, hypogammaglobulinemia and recurrent infections without intestinal inflammation or autoimmunity
|
van Konijnenburg, David Hoytema
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250 |
S |
p.
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artikel
|
| 10 |
A comprehensive knowledgebase of known and predicted human genetic variants associated with COVID-19 susceptibility and severity
|
Kars, Meltem Ece
|
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250 |
S |
p.
|
artikel
|
| 11 |
A heterozygous CARD11 variant in a patient with infantile atopic disease, humoral deficiency and lymphocytosis
|
Chin, Aaron
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250 |
S |
p.
|
artikel
|
| 12 |
A Heterozygous Nonsense Variant of NFKBIA Leading to Gain-of-Function
|
LaHood, Ryan
|
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250 |
S |
p.
|
artikel
|
| 13 |
A human ITPR3 variant causes a dominant negative attenuation of calcium responses with immunodeficiency and growth delay confirmed in a mouse model
|
Wysocki, Christian
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250 |
S |
p.
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artikel
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| 14 |
A Human STAT3 Gain of Function Variant Drives Th17 Expansion and IL-22-dependent Skin Inflammation in a Model of Psoriasiform Dermatitis
|
Toth, Kelsey
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250 |
S |
p.
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artikel
|
| 15 |
AIOLOS haploinsufficiency is associated with immunodeficiency, autoimmunity, and allergy
|
Kuehn, Hyesun
|
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250 |
S |
p.
|
artikel
|
| 16 |
ALPS Diagnosis: Different Phenotype in Child and Mother
|
Ivankovich-Escoto, Gabriela
|
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250 |
S |
p.
|
artikel
|
| 17 |
ALPS like: Trekking Sirolimus and its Fallouts
|
D’Netto, Michael
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250 |
S |
p.
|
artikel
|
| 18 |
Analysis of trough levels of total IgG, IgG subclasses, measles neutralizing antibodies and IgG antibodies to encapsulated pathogens after infusion of a 5% or 10% intravenous immunoglobulin
|
Clark, Kim
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250 |
S |
p.
|
artikel
|
| 19 |
An Atypical Presentation of X-linked Lymphoproliferative Disease type 1 Presenting with Seronegative Coccidioidomycosis
|
Schening, Jonathon
|
|
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250 |
S |
p.
|
artikel
|
| 20 |
A newborn with multiple intestinal atresias found to have variants in tetratricopeptide repeat domain 7A gene
|
Zhou, Cynthia
|
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250 |
S |
p.
|
artikel
|
| 21 |
A New Registry for Genetic Diagnosis of Inborn Errors of Immunity within the Military Health System
|
Snow, Andrew
|
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250 |
S |
p.
|
artikel
|
| 22 |
Another iceberg of genetic testing: more questions than answers
|
Shapero, Mara
|
|
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250 |
S |
p.
|
artikel
|
| 23 |
A novel IL2RG transmembrane mutation resulting in severe combined immunodeficiency and maternal T cell engraftment
|
Xu, Jennifer
|
|
|
250 |
S |
p.
|
artikel
|
| 24 |
Anti-interferon-alpha autoantibodies in patients with inborn errors of Immunity and rheumatic diseases before and during the COVID-19 pandemic
|
Dasso, Joseph
|
|
|
250 |
S |
p.
|
artikel
|
| 25 |
Anti-interferon-γ autoantibodies in patients with indeterminate QuantiFERON®-TB Gold Plus Assay results
|
Lee, Serena
|
|
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250 |
S |
p.
|
artikel
|
| 26 |
An Unexpected Diagnosis of MAGT1 Deficiency in a Patient with CVID-like Features, Molluscum Contagiosum and Atopy
|
Schutt, Madeline
|
|
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250 |
S |
p.
|
artikel
|
| 27 |
An Unreported homozygous variant within Lipopolysaccharide responsive beige-like anchor (LRBA) gene in a child exhibiting with infantile type 1 diabetes mellitus
|
Alzahrani, Ali
|
|
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250 |
S |
p.
|
artikel
|
| 28 |
A Patient With Hypogammaglobulinemia and Bi-allelic Variants in the RNU4ATAC Gene
|
Lairet, Stephania
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250 |
S |
p.
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artikel
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| 29 |
A rare cause of necrotizing pneumonia in an adult woman: p40phox (NCF4) deficient autosomal recessive Chronic Granulomatous Disease
|
Chester, Jennifer
|
|
|
250 |
S |
p.
|
artikel
|
| 30 |
A Rare Immunodeficiency As a Cause of Inflammatory Bowel Disease; ARPC1B Deficiency
|
Sefer, Asena Pinar
|
|
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250 |
S |
p.
|
artikel
|
| 31 |
A report on the clinical efficacy of rituximab administration in patients with inborn errors of immunity and autoimmune manifestations
|
Mohammadi, Mahya
|
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250 |
S |
p.
|
artikel
|
| 32 |
Assessment of disease activity and management of patients with NFkB1 insufficiency
|
Hassunah, Pia
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250 |
S |
p.
|
artikel
|
| 33 |
Assessment of Sleep Disturbances and Sleep Disordered Breathing in Primary Immunodeficiency Disorders
|
Punj, Mantavya
|
|
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250 |
S |
p.
|
artikel
|
| 34 |
Association Between Severe SARS-CoV-2 Infection and De Novo HLA Donor Specific Antibody Production in Lung Transplant Recipients: Single-center study
|
Shah, Sadia
|
|
|
250 |
S |
p.
|
artikel
|
| 35 |
Association of SARS-COV-2 viral RNAemia, IL- 6 gene polymorphism, serum IL-6 and peripheral blood lymphocytes and monocytes with disease severity in COVID-19 patients
|
Tarafder, Shirin
|
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250 |
S |
p.
|
artikel
|
| 36 |
A step closer to understanding the predisposition to autoimmunity as well humoral defects in aging patients with 22q11.2 deletion syndrome
|
Alsaati, Nouf
|
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250 |
S |
p.
|
artikel
|
| 37 |
Atypical Presentations of Hypomorphic X-Linked SCID
|
Pettiford, Leah
|
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250 |
S |
p.
|
artikel
|
| 38 |
Autoinflammatory Conditions May Increase Risk of Adverse Drug Reactions
|
Spall, Ammarah
|
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250 |
S |
p.
|
artikel
|
| 39 |
Autosomal dominant NFKB1 haploinsufficiency and family planning
|
Hannett, Katrina
|
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250 |
S |
p.
|
artikel
|
| 40 |
Autosomal recessive T-bet and RORgammaT deficiencies underlie mycobacterial susceptibility
|
Yang, Rui
|
|
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250 |
S |
p.
|
artikel
|
| 41 |
Avapritinib for the Treatment of Indolent Systemic Mastocytosis
|
Abdelkader, Samer
|
|
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250 |
S |
p.
|
artikel
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| 42 |
A 4-year-old with life-threatening respiratory and neuro-invasive viral infections, and Burkitt lymphoma
|
Vinh, Donald
|
|
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250 |
S |
p.
|
artikel
|
| 43 |
Base editor-mediated correction of a BTK Mutation in XLA Patient Hematopoietic Stem Cells restores Human B cell development
|
Zea-Vera, Andres
|
|
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250 |
S |
p.
|
artikel
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| 44 |
B-cell driven autoimmunity in two patients with monogenic autoinflammatory disorders
|
Nguyen, Thinh
|
|
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250 |
S |
p.
|
artikel
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| 45 |
B cell subsets in thymus from infants with Down syndrome
|
Silveira-Lessa, Ana Lúcia
|
|
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250 |
S |
p.
|
artikel
|
| 46 |
Case of a 38-year-old man with NEMO deficiency syndrome complicated by marginal zone lymphoma
|
Li, Jennifer
|
|
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250 |
S |
p.
|
artikel
|
| 47 |
Case Study of a 29 year-old Female with Ulcerative Proctitis
|
Jaffe, Russell
|
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250 |
S |
p.
|
artikel
|
| 48 |
Case Study: Successful transition to ASCENIV therapy with improved PROMs
|
Prosser, Barbara
|
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250 |
S |
p.
|
artikel
|
| 49 |
CBL Syndrome: At the Intersection of Inborn Error of Immunity and Cancer Predisposition
|
Lesmana, Harry
|
|
|
250 |
S |
p.
|
artikel
|
| 50 |
CDC45 haploinsufficiency as a novel cause of natural killer cell deficiency
|
Guilz, Nicole C.
|
|
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250 |
S |
p.
|
artikel
|
| 51 |
CD40LG genotype does not correlate with clinical phenotype in X-linked hyper-IgM syndrome
|
Gall, Tina
|
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250 |
S |
p.
|
artikel
|
| 52 |
CGDilemma: Fitting Together the Puzzle Pieces for Definitive Diagnosis
|
Budhu, Gail
|
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250 |
S |
p.
|
artikel
|
| 53 |
Challenges of Diagnostic Approach in a Hyper-IgE Syndrome Family
|
Blair, Grace
|
|
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250 |
S |
p.
|
artikel
|
| 54 |
Characteristics and Clinical Implications of Anti-IFN-α cytokine antibodies in partial Recombinase Activating Gene Deficiency patients before and during the COVID-19 Pandemic
|
Gordon, Sumai
|
|
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250 |
S |
p.
|
artikel
|
| 55 |
Characterization of Adaptive Immune Responses to SARS-CoV-2 Updated Bivalent Booster
|
Wachter, Brianna
|
|
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250 |
S |
p.
|
artikel
|
| 56 |
Characterization of expanded γδ T cells from patient with atypical X-linked severe combined immunodeficiency reveals preserved function and IL2RG-mediated signaling
|
Grönholm, Juha
|
|
|
250 |
S |
p.
|
artikel
|
| 57 |
Characterization of patients with Inborn Errors of Immunity in six years of experience in the Immunology Outpatient Clinic of a University Hospital in Cali, Colombia (2015–2021)
|
Pineda, Monica Fernandes
|
|
|
250 |
S |
p.
|
artikel
|
| 58 |
Characterizing A Novel Variant in ABCB1 in a Family with Activated PI3K Delta Syndrome-like Presentation
|
Yilmaz, Melis
|
|
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250 |
S |
p.
|
artikel
|
| 59 |
Chromosomal microarray analysis reveals copy number variants contribute to disease in children with suspected inborn errors of immunity
|
Beers, Breanna
|
|
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250 |
S |
p.
|
artikel
|
| 60 |
Chronic granulomatous disease identified in the evaluation of atypical Kawasaki disease in an infant
|
Solomon, Benjamin
|
|
|
250 |
S |
p.
|
artikel
|
| 61 |
Chronic mucocutaneous candidiasis and immune dysregulation due to STAT1 Gain of Function
|
Hauk, Stacey
|
|
|
250 |
S |
p.
|
artikel
|
| 62 |
Chronic norovirus infection in a pediatric patient with complete DiGeorge syndrome
|
La, Nhi
|
|
|
250 |
S |
p.
|
artikel
|
| 63 |
Chronic Rhinosinusitis with Nasal Polyposis in an Adult with Homozygous Variants of Uncertain Significance in ABCA3 Gene
|
Jung, Jenna
|
|
|
250 |
S |
p.
|
artikel
|
| 64 |
Clinical and immunological phenotype of patients caryying CASP10 variants
|
Miano, Maurizio
|
|
|
250 |
S |
p.
|
artikel
|
| 65 |
Clinical and immunological prophyle of long lasting and late onset neutropenia: beyond primary autoimmune and idiopathic neutropenia
|
Beccaria, Andrea
|
|
|
250 |
S |
p.
|
artikel
|
| 66 |
Clinical characteristics of patients with NOD2 high risk allele variants
|
Chinga, Michell Lozano
|
|
|
250 |
S |
p.
|
artikel
|
| 67 |
Clinical Course of A Patient With Agammaglobulinemia Caused By SLC39A7 Defect
|
Le, Thao
|
|
|
250 |
S |
p.
|
artikel
|
| 68 |
Clinical features and treatment of activated PI3K-delta syndrome in Peruvian children: A case series
|
Toribio-Dionicio, Crhistian
|
|
|
250 |
S |
p.
|
artikel
|
| 69 |
Clinical relevance of somatic mosaic variants detected from exome sequencing data
|
Ghosh, Rajarshi
|
|
|
250 |
S |
p.
|
artikel
|
| 70 |
Clinical spectrum of Cryopyrin-associated Periodic Syndrome associated with a single nucleotide variant of the NLRP3 gene in a Puerto Rican family
|
Rivera-Bobe, Nicole
|
|
|
250 |
S |
p.
|
artikel
|
| 71 |
Consecutive high dosing soluble CD40L injection: still ongoing pathway for constructing a murine model of autoinflammation
|
Cunha, André da
|
|
|
250 |
S |
p.
|
artikel
|
| 72 |
Contents
|
|
|
|
250 |
S |
p.
|
artikel
|
| 73 |
Correlation between levels of anti-cytokine antibodies, recombination activity of the mutant RAG proteins and clinical phenotype in patients with RAG deficiency
|
Notarangelo, Luigi
|
|
|
250 |
S |
p.
|
artikel
|
| 74 |
COVID-19-Related Encephalitis in a Child with PIK3CD Defect
|
Potts, David
|
|
|
250 |
S |
p.
|
artikel
|
| 75 |
CTLA-4 insufficiency presented in early childhood – report of four patients from single center
|
Drabko, Katarzyna
|
|
|
250 |
S |
p.
|
artikel
|
| 76 |
CTLA4 variant curation using adapted ACMG/AMP guidelines
|
Hankey, William
|
|
|
250 |
S |
p.
|
artikel
|
| 77 |
Curation Of Genes Associated with Primary Antibody Deficiencies Using A ClinGen Framework
|
Nieto-Patlán, Alejandro
|
|
|
250 |
S |
p.
|
artikel
|
| 78 |
Curious cases of GATA2 deficiency: clonal evolution or dual diagnoses?
|
Seifert, Bryce
|
|
|
250 |
S |
p.
|
artikel
|
| 79 |
Decreased or Absent B Cells in patients with Severe Reduction in All Serum Immunoglobulin Isotypes, a registry based study
|
Sherka, Roya
|
|
|
250 |
S |
p.
|
artikel
|
| 80 |
Deep sequencing refines prior genomic analysis in families with apparent gonadal mosaicism
|
Orellana, Halyn
|
|
|
250 |
S |
p.
|
artikel
|
| 81 |
Defining the impact of FOXN1 variants with functional assays and reaggregate thymus organ cultures reveals those with loss- and gain- of function and dominant negative consequences
|
Moses, Angela
|
|
|
250 |
S |
p.
|
artikel
|
| 82 |
Delayed B-cell maturation with extra-follicular B-cell response and broad autoantibody repertoire are characteristic B-cell dysregulation signatures in patients with multi-lineage cytopenia
|
Kumar, Deepak
|
|
|
250 |
S |
p.
|
artikel
|
| 83 |
Delayed B cell reconstitution and maturation with hypogammaglobulinemia in the setting of in utero exposure to rituximab
|
Voelker, Dayne
|
|
|
250 |
S |
p.
|
artikel
|
| 84 |
Delayed onset ADA-SCID presenting as secondary HLH in a patient with normal newborn screening
|
Edmunds, Miranda
|
|
|
250 |
S |
p.
|
artikel
|
| 85 |
Development of warm autoimmune hemolytic anemia after initiation of Ruxolitinib in a patient with STAT1 gain-of-function mutation
|
Hartono, Stella
|
|
|
250 |
S |
p.
|
artikel
|
| 86 |
Diagnostic and Treatment Challenges in a Pediatric Patient with Progressive Refractory ALPS-like Disease
|
Zuhdi, Kareem
|
|
|
250 |
S |
p.
|
artikel
|
| 87 |
Diagnostic significance of TREC and KRE Cevaluation in case of primary immunodeficiencies
|
Polyakova, Ekaterina
|
|
|
250 |
S |
p.
|
artikel
|
| 88 |
Differences in Baseline Immunophenotype in Pediatric Cardiac Transplant Evaluation: How Informed Reductions in Immunosuppression can Improve Patient Outcomes
|
Gunderman, Lauren
|
|
|
250 |
S |
p.
|
artikel
|
| 89 |
Differentially expressed miRNAs may help explaining the pathogenesis of relevant 22q11.2 clinical manifestations
|
Giardino, Giuliana
|
|
|
250 |
S |
p.
|
artikel
|
| 90 |
Diffuse large B-cell lymphoma in 1-year male with founder Slavic RAG1 mutation: case report
|
Volodashchik, Tatiana
|
|
|
250 |
S |
p.
|
artikel
|
| 91 |
Distinct Patterns in Treg and T-helper Subset Reconstitution After Autologous Hematopoietic Stem Cell Transplantation in Juvenile-onset Systemic Sclerosis Patients
|
Szabolcs, Paul
|
|
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250 |
S |
p.
|
artikel
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| 92 |
Dominant interfering CARD11 variants disrupt JNK signaling in T cells and impaired CARD11-JNK signaling increases expression of GATA3
|
Bauman, Bradly
|
|
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250 |
S |
p.
|
artikel
|
| 93 |
Dominant Negative Variants in IKZF2 Cause ICHAD Syndrome, a New Disorder Characterized by Immunodysregulation, Craniofacial Anomalies, Hearing Impairment, Athelia, and Developmental Delay
|
Vaseghi-Shanjani, Maryam
|
|
|
250 |
S |
p.
|
artikel
|
| 94 |
Dried Blood Spot Analyses for the Diagnosis of Anti-cytokine Autoantibodies
|
Toth, Eszter
|
|
|
250 |
S |
p.
|
artikel
|
| 95 |
Drug Allergies in Immunodeficiencies: a Single-Center Experience in Southern California
|
Ziyar, Ahdad
|
|
|
250 |
S |
p.
|
artikel
|
| 96 |
Dupilumab as Adjunct Treatment for Persistent Food Allergy in Adulthood
|
Young, Fernanda
|
|
|
250 |
S |
p.
|
artikel
|
| 97 |
Dynamics of TREC and KREC for patients after therapy with anti-CD20 monoclonal antibodies
|
Polyakova, Ekaterina
|
|
|
250 |
S |
p.
|
artikel
|
| 98 |
Early immune reconstitution in an infant with adenosine deaminase deficient severe combined immunodeficiency started on enzyme replacement therapy
|
Phillips, Michael
|
|
|
250 |
S |
p.
|
artikel
|
| 99 |
EBV-related lymphoproliferative disease in Wiskott-Aldrich Syndrome patient
|
Parashar, Sonya
|
|
|
250 |
S |
p.
|
artikel
|
| 100 |
Editorial Board
|
|
|
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250 |
S |
p.
|
artikel
|
| 101 |
Effectiveness of T2 biologics in patients with common variable immune deficiency and allergic respiratory disease
|
Galant-Swafford, Jessica
|
|
|
250 |
S |
p.
|
artikel
|
| 102 |
Efficacy and safety of hyaluronidase-facilitated subcutaneous immunoglobulin 10% in US pediatric patients with primary immunodeficiency disease
|
Patel, Niraj
|
|
|
250 |
S |
p.
|
artikel
|
| 103 |
Efficacy of Dupilumab in STAT6 GOF disease: 30 months follow-up of a single patient
|
Leung, Daniel
|
|
|
250 |
S |
p.
|
artikel
|
| 104 |
Elevated CD38 expression on STAT1 GOF CD8+T cells – a potential driver of CD8+ T cell dysregulation?
|
Mauracher, Andrea
|
|
|
250 |
S |
p.
|
artikel
|
| 105 |
Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency
|
Liu, Zhiyong
|
|
|
250 |
S |
p.
|
artikel
|
| 106 |
Epstein Barr Virus Positive Hodgkin's Lymphoma in a Patient with NEMO Deficiency
|
Tauk, Silpa
|
|
|
250 |
S |
p.
|
artikel
|
| 107 |
Evaluating clinical factors for improved utilization of targeted gene panel testing for inborn errors of immunity in a U.S. tertiary care pediatric hospital
|
Udomkittivorakul, Natsumon
|
|
|
250 |
S |
p.
|
artikel
|
| 108 |
Evaluation and Treatment of a Severe Case of Pediatric Idiopathic Hypereosinophilic Syndrome
|
Cotter, Courtney
|
|
|
250 |
S |
p.
|
artikel
|
| 109 |
Evaluation of functional activity of thymus and bone marrow of newborns using the method of TREC and KREC quantitation
|
Polyakova, Ekaterina
|
|
|
250 |
S |
p.
|
artikel
|
| 110 |
Expandig Lentiviral Vectors cargo capacity with protein trans-splicing
|
Toriello, Elisabetta
|
|
|
250 |
S |
p.
|
artikel
|
| 111 |
Extracellular vesicles derived from the intestinal microbiota of patients with CGD-associated inflammatory bowel disease have pro-inflammatory effects
|
Villard, Alexandre
|
|
|
250 |
S |
p.
|
artikel
|
| 112 |
Facilitated subcutaneous immunoglobulin 10% at a target dose of 0.4 g/kg/infusion is well tolerated with accelerated or no dose ramp-up in healthy participants
|
Li, Zhaoyang
|
|
|
250 |
S |
p.
|
artikel
|
| 113 |
Family History of Agammaglobulinemia Among Racial and Ethnic Minority Groups with X-linked Agammaglobulinemia from the USIDNET Registry
|
O’Toole, Dana
|
|
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250 |
S |
p.
|
artikel
|
| 114 |
Fatal COVID-19 in an infant prompted an early diagnosis of ZNFX1 deficiency in a sibling
|
Alzyoud, Raed
|
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