about
Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiencyAutosomal dominant immune dysregulation syndrome in humans with CTLA4 mutationsClinical and Molecular Heterogeneity of RTEL1 DeficiencyPGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseasesReversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.Pathogenic fungi regulate immunity by inducing neutrophilic myeloid-derived suppressor cells.Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia.Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort studyClinical and immunological manifestations of patients with atypical severe combined immunodeficiency.Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature.Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency.The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome.X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.Symptomatic Cytomegalovirus Infections in the First Year of Life: When Is Antiviral Therapy Conceived to Be Justified?X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis.Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.Preserved effector functions of human ORAI1- and STIM1-deficient neutrophils.Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.Human RAD52 - a novel player in DNA repair in cancer and immunodeficiencyEvolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency.Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency.Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome.XIAP deficiency is a mendelian cause of late-onset IBD.Clonality analysis after retroviral-mediated gene transfer to CD34+ cells from the cord blood of ADA-deficient SCID neonates.Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.
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description
researcher ORCID ID = 0000-0002-6217-1556
@en
wetenschapper
@nl
name
Carsten Speckmann
@ast
Carsten Speckmann
@en
Carsten Speckmann
@es
Carsten Speckmann
@nl
type
label
Carsten Speckmann
@ast
Carsten Speckmann
@en
Carsten Speckmann
@es
Carsten Speckmann
@nl
prefLabel
Carsten Speckmann
@ast
Carsten Speckmann
@en
Carsten Speckmann
@es
Carsten Speckmann
@nl
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P21
P214
P31
P496
0000-0002-6217-1556
P734
P7859
viaf-18305388