C. Speckmann

发表

Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.

U. Pannicke, K. Schwarz, W. Friedrich, 2008, Blood.

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.

M. Hershfield, R. Guerrini, G. la Marca, 2013, The Journal of allergy and clinical immunology.

Antiviral and Regulatory T Cell Immunity in a Patient with Stromal Interaction Molecule 1 Deficiency

K. Schwarz, S. Ehl, S. Feske, 2012, The Journal of Immunology.

Phenotype, penetrance, and treatment of 133 cytotoxic T‐lymphocyte antigen 4–insufficient subjects

O. Elemento, T. Giese, A. Schulz, 2018, The Journal of allergy and clinical immunology.

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

T. Morio, A. Worth, Sophie Jung, 2016, The Journal of allergy and clinical immunology.

Pulmonary Manifestations of Genetic Disorders of Immune Regulation

U. Baumann, C. Speckmann, S. Bode, 2019, Pulmonary Manifestations of Primary Immunodeficiency Diseases.

Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency.

K. Schwarz, S. Ehl, S. Fuchs, 2010, Clinical immunology.

Modeling MyD88 Deficiency In Vitro Provides New Insights in Its Function

K. Schwarz, S. Ehl, T. Cathomen, 2020, Frontiers in Immunology.

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

C. Klein, A. Franke, H. von Bernuth, 2017, Inflammatory bowel diseases.

Diagnostic and therapeutic challenges in a child with complete Interferon‐γ Receptor 1 deficiency

J. Casanova, C. Deswarte, J. Bustamante, 2015, Pediatric blood & cancer.

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption

S. Ehl, C. Niemeyer, S. Grünert, 2015, Pediatric blood & cancer.

Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies

A. Schulz, J. Heemskerk, A. Braun, 2017, Haematologica.

Preserved effector functions of human ORAI1- and STIM1-deficient neutrophils.

K. Schwarz, S. Ehl, S. Feske, 2016, Journal of Allergy and Clinical Immunology.

Chronic Inflammatory Bowel Disease as Key Manifestation of Atypical ARTEMIS Deficiency

U. Pannicke, K. Schwarz, S. Ehl, 2010, Journal of Clinical Immunology.

Pulmonary granulomatosis of genetic origin

A. Heinzmann, C. Speckmann, J. Rohr, 2021, European Respiratory Review.

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome

K. Schwarz, T. Brümmendorf, P. Soler-Palacín, 2018, Immunology and cell biology.

Reduced memory B cells in patients with hyper IgE syndrome.

A. Plebani, J. Franco, J. Litzman, 2008, Clinical immunology.

XIAP deficiency is a mendelian cause of late-onset IBD

S. Ehl, C. Speckmann, 2013, Gut.

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

K. Schwarz, F. Rieux-Laucat, A. Fischer, 2017, Haematologica.

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome.

U. Pannicke, K. Schwarz, F. Rieux-Laucat, 2015, Blood.

Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations.

L. Notarangelo, C. Picard, P. Soler-Palacín, 2019, Clinical immunology.

A new functional assay for the diagnosis of X‐linked inhibitor of apoptosis (XIAP) deficiency

K. Schwarz, S. Ehl, A. Worth, 2014, Clinical and experimental immunology.

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

S. Ammann, S. Burns, K. Gilmour, 2016, Journal of Clinical Immunology.

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

Ankita Patel, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.

U. Pannicke, K. Schwarz, S. Ehl, 2016, Clinical Immunology.

XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome

S. Ammann, T. Mogensen, M. Christiansen, 2016, BMJ Case Reports.

Size-limited high-density nanopore formation in two-dimensional moiré materials

T. Michely, A. Grüneis, B. Senkovskiy, 2022, Physical Review B.

Longitudinal Immune Response to 3 Doses of Messenger RNA Vaccine Against Coronavirus Disease (COVID-19) in Pediatric Patients Receiving Chemotherapy for Cancer

U. Sack, S. Hoehl, S. Ciesek, 2022, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

A Model for the Detection of Clonality in Marked Hematopoietic Stem Cells

H. Glimm, Manfred Schmidt, C. Kalle, 2001, Annals of the New York Academy of Sciences.

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

F. Rieux-Laucat, A. Schulz, H. Kanegane, 2017, The Journal of allergy and clinical immunology.

Functional flow cytometry of monocytes for routine diagnosis of innate primary immunodeficiencies.

S. Ehl, S. Fuchs, I. Hainmann, 2019, The Journal of allergy and clinical immunology.

Epigenetic immune cell counting in human blood samples for immunodiagnostics

U. Sack, M. Gossen, D. Stevenson, 2018, Science Translational Medicine.

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.

U. Pannicke, K. Schwarz, S. Ehl, 2006, Blood.

Symptomatic Males and Female Carriers in a Large Caucasian Kindred with XIAP Deficiency

S. Ammann, B. Grimbacher, C. Canning, 2015, Journal of Clinical Immunology.

S. Ehl, V. Drendel, A. Schmitt-Graeff, 2017, Clinical immunology.

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

K. Schwarz, S. Ehl, A. Mackensen, 2015, Blood.

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

K. Schwarz, S. Ehl, K. Warnatz, 2010, Haematologica.

Germline deletion of CIN85 in humans with X chromosome–linked antibody deficiency

M. Shoukier, K. Warnatz, Baerbel Keller, 2018, The Journal of experimental medicine.

Symptomatic Cytomegalovirus Infections in the First Year of Life: When Is Antiviral Therapy Conceived to Be Justified?

P. Henneke, C. Speckmann, R. Goelz, 2016, The Pediatric infectious disease journal.

High Levels of IL-18 and IFN-γ in Chronically Inflamed Tissue in Chronic Granulomatous Disease

S. Ehl, O. Pastukhov, J. Reichenbach, 2019, Front. Immunol..

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis

K. Schwarz, A. Fischer, A. Schulz, 2017, The Journal of allergy and clinical immunology.

Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1.

S. Ehl, Manuela Pendziwiat, I. Helbig, 2021, The Journal of allergy and clinical immunology.

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50

J. Walter, J. Church, M. Varjosalo, 2022, Frontiers in Immunology.

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency

B. Fevang, A. Schmitt-Graeff, Z. Eskandarian, 2016, Clinical and experimental immunology.

Long‐term outcomes of 176 patients with X‐linked hyper‐IgM syndrome treated with or without hematopoietic cell transplantation

L. Notarangelo, J. Chou, C. Cunningham-Rundles, 2017, The Journal of allergy and clinical immunology.

Pathogenic Fungi Regulate Immunity by Inducing Neutrophilic Myeloid-Derived Suppressor Cells

R. Schüle, Zhiyong Ye, J. Ruland, 2015, Cell host & microbe.

Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD

S. Choo, S. Ehl, A. Worth, 2021, Journal of clinical immunology.

Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity.

K. Korn, S. Choo, S. Ehl, 2021, The Journal of allergy and clinical immunology.

The German National Registry of Primary Immunodeficiencies (2012–2017)

K. Schwarz, D. Foell, A. Schulz, 2019, Front. Immunol..

Lipid Apheresis to Manage Severe Hypertriglyceridemia during Induction Therapy in a Child with Acute Lymphoblastic Leukemia

C. Flotho, C. Speckmann, Friedrich G. Kapp, 2020, Pediatric hematology and oncology.

Risk factors for mixed chimerism in children with hemophagocytic lymphohistiocytosis after reduced toxicity conditioning

B. Burkhardt, A. Schulz, S. Ehl, 2020, Pediatric blood & cancer.

Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis

S. Ehl, H. Hennies, C. Klemann, 2017, Journal of Clinical Immunology.

Long-term robustness of a T-cell system emerging from somatic rescue of a genetic block in T-cell development

K. Schwarz, S. Ehl, S. Fuchs, 2020, EBioMedicine.

Clonality analysis after retroviral-mediated gene transfer to CD34+ cells from the cord blood of ADA-deficient SCID neonates

B. Aronow, M. Wissler, D. Kohn, 2003, Nature Medicine.

SARS-CoV-2 in children with cancer or after haematopoietic stem cell transplant: An analysis of 131 patients

B. Phillips, A. Attarbaschi, A. Groll, 2021, European Journal of Cancer.

Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations.

Nurit Assia Batzir, K. Schwarz, D. Foell, 2021, The Journal of allergy and clinical immunology.

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.

A. Fischer, A. Schulz, Joanne M. Smart, 2019, The Journal of allergy and clinical immunology.

A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS

K. Schwarz, R. Backofen, M. Boerries, 2020, The Journal of experimental medicine.

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Bodo Grimbacher, James Curtis, Siobhan O. Burns, 2017, The Journal of allergy and clinical immunology.

ORAI1 mutations abolishing store‐operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency

F. Rieux-Laucat, C. Picard, S. Ehl, 2017, The Journal of allergy and clinical immunology.

Clinical and Molecular Heterogeneity of RTEL1 Deficiency

U. Pannicke, K. Schwarz, S. Ehl, 2017, Front. Immunol..

International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome

A. Schulz, L. Notarangelo, A. Gennery, 2021, The Journal of allergy and clinical immunology.

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature

K. Schwarz, C. Speckmann, O. Neth, 2016, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction

E. Ballestar, C. Plass, P. Soler-Palacín, 2019, bioRxiv.

Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations.

S. Ehl, M. Heeg, C. Has, 2019, Clinical immunology.

Genetic Disorders of Immune Regulation

S. Ehl, A. Borkhardt, E. Gambineri, 2017 .

A prospective outcome study of patients with profound combined immunodeficiency (P-CID)

S. Ehl, M. Wolkewitz, C. Speckmann, 2015 .

X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.

K. Schwarz, S. Ehl, H. von Bernuth, 2013, Clinical immunology.

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.

U. Pannicke, K. Schwarz, S. Ehl, 2015, Blood.

Hematopoietic cell transplantation in severe combined immunodeficiency: the SCETIDE 2006-2014 European cohort.

A. Fischer, A. Schulz, W. Friedrich, 2021, The Journal of allergy and clinical immunology.

Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

A. Fischer, W. Friedrich, L. Notarangelo, 2012, Blood.

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

W. Al-Herz, A. Gennery, S. Pai, 2015, Haematologica.

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.

K. Schwarz, W. Vach, M. van der Burg, 2016, Blood.

Autosomal-dominant immune dysregulation syndrome in humans with CTLA4 mutations

A. Schäffer, R. Backofen, S. Ehl, 2014, Nature Medicine.

Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

A. Schulz, S. Ehl, R. Krüger, 2023, Journal of Clinical Immunology.

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

K. Schwarz, S. Ehl, W. Qasim, 2011, Clinical immunology.

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency.

K. Schwarz, H. Pircher, S. Ehl, 2014, Blood.

The expansion of human T-bethighCD21low B cells is T cell dependent

J. Casanova, M. Boerries, M. van der Burg, 2021, Science Immunology.

Patients with T+/low NK+ IL‐2 receptor γ chain deficiency have differentially‐impaired cytokine signaling resulting in severe combined immunodeficiency

K. Schwarz, A. Gennery, S. Ehl, 2014, European journal of immunology.

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency

J. Casanova, R. Badolato, R. Fuleihan, 2021, The Journal of Immunology.

NBAS Gene Mutation Causes Insulin-Dependent Diabetes Mellitus in a Patient with a Multisystem Disorder Consisting Immunodeficiency and Extremely Short Stature

Björn Fischer-Zirnsak, C. Speckmann, S. Wudy, 2018 .

Outcome of chronic granulomatous disease ‐ Conventional treatment vs stem cell transplantation

A. Fischer, N. Mahlaoui, J. Schulte, 2020, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation

S. Ehl, Miriam Heizmann, M. Nordenskjöld, 2018, The Journal of allergy and clinical immunology.

Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis

Michael M. Henry, S. Holland, E. Haddad, 2020, Journal of Clinical Immunology.

Daratumumab therapy for post-HSCT immune-mediated cytopenia: experiences from two pediatric cases and review of literature

C. Niemeyer, B. Strahm, C. Speckmann, 2021, Molecular and Cellular Pediatrics.

Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation.

K. Schwarz, S. Ehl, S. Feske, 2017, The Journal of allergy and clinical immunology.

Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency.

S. Ehl, J. Heemskerk, C. Speckmann, 2013, Blood.

Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD

S. Choo, S. Ehl, A. Worth, 2021, Journal of Clinical Immunology.

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.

K. Schwarz, A. Fischer, C. Picard, 2015, Clinical immunology.

Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia

K. Schwarz, W. Vach, E. Mejstrikova, 2013, Haematologica.

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.

Sri V. V. Deevi, Kenneth G. C. Smith, K. Stirrups, 2018, The Journal of allergy and clinical immunology.

RAG1 deficiency with a shifting B cell phenotype and chromosomal instability.

K. Schwarz, A. Borkhardt, D. Schindler, 2014, Clinical immunology.

Symptomatic Males and Female Carriers in a Large Caucasian Kindred with XIAP Deficiency

S. Ammann, B. Grimbacher, C. Canning, 2015, Journal of Clinical Immunology.

Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling

N. Mailand, S. Bekker-Jensen, S. Ehl, 2013, EMBO molecular medicine.

Tuberculosis-Associated HLH in an 8-Month-Old Infant: A Case Report and Review

S. Ehl, H. Hauch, C. Jux, 2020, Frontiers in Pediatrics.

Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis.

K. Schwarz, S. Ehl, M. Hershfield, 2012, The Journal of allergy and clinical immunology.

Autoinflammatory Diseases Predominantly Affecting the Gastrointestinal Tract

C. Speckmann, E. Glocker, 2014 .

Use of eculizumab in children with allogeneic haematopoietic stem cell transplantation associated thrombotic microangiopathy - a multicentre retrospective PDWP and IEWP EBMT study

Y. Bertrand, Z. Prohászka, B. Neven, 2022, Bone Marrow Transplantation.

Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?

J. Litzman, Hanns-Martin Lorenz, G. Häcker, 2022, Frontiers in Immunology.

Abnormally differentiated CD 4 1 or CD 8 1 T cells with phenotypic and genetic features of double negative T cells in human Fas de fi ciency

K. Schwarz, H. Pircher, S. Ehl, 2014 .

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak

U. Pannicke, K. Schwarz, S. Ehl, 2016 .

syndrome type II Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak

U. Pannicke, K. Schwarz, A. Yoshimi, 2013 .

Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity, an EBMT IEWP study.

A. Schulz, A. Gennery, N. Mahlaoui, 2022, Blood.

Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants

D. Metze, T. Marquardt, U. Stadt, 2020, Acta dermato-venereologica.

Prolidase deficiency ( PD ) ( OMIM 170100 ) is a rare genetic metabolic autosomal recessive disorder caused by mutations in the PEPD gene encoding the enzyme pro-lidase

D. Metze, T. Marquardt, U. Stadt, 2019 .

The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing

H. Fuchs, M. Moutschen, M. Kneussel, 2017, EMBO reports.

Human RAD52 – a novel player in DNA repair in cancer and immunodeficiency

W. Klapper, H. Gohlke, A. Borkhardt, 2017, Haematologica.

Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation

S. Ehl, A. Yoshimi, M. Erlacher, 2021, Journal of Clinical Immunology.

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

L. Notarangelo, A. Gennery, M. Hershfield, 2014, The Journal of allergy and clinical immunology.

Combined electronic excitation and knock-on damage in monolayer MoS2

N. McEvoy, J. Kotakoski, C. Speckmann, 2023, Physical Review B.

Combined electronic excitation and knock-on damage in monolayer MoS2

N. McEvoy, J. Kotakoski, C. Speckmann, 2023, 2302.10529.

Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).

M. Muckenthaler, A. Schulz, D. Hübschmann, 2017, Clinical immunology.

KRECs BUT NOT TRECs IDENTIFY PATIENTS WITH DELAYED-ONSET ADENOSINE DEAMINASE (ADA) DEFICIENCY IN NEONATAL SCREENING

C. Speckmann, 2013 .

Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2

A. Worth, N. Klein, K. Gilmour, 2019, Front. Immunol..

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

J. Casanova, A. Bousfiha, B. Fevang, 2022, The Journal of experimental medicine.

Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency.

A. Gennery, A. Worth, Linlin Yang, 2021, The Journal of allergy and clinical immunology.

JAKi Salvage Therapy Followed by Curative Cord Blood Transplantation in a XIAP-Deficient Infant with Relapsing HLH

S. Ehl, B. Strahm, C. Speckmann, 2023, Journal of Clinical Immunology.

NAXD Deficiency Associated with Perinatal Autoinflammation, Pancytopenia, Dermatitis, Colitis, and Cystic Encephalomalacia

S. Ehl, T. Niehues, M. Lee-Kirsch, 2020, Journal of Pediatric Neurology.

Non-bronchoscopic bronchoalveolar lavage (mini-BAL) in critically ill pediatric patients with severe respiratory failure (pARDS) after Hematopoietic stem-cell transplantation (HSCT) – A single-center experience

H. Fuchs, C. Speckmann, D. Klotz, 2023, Zeitschrift für Geburtshilfe und Neonatologie.

Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis

S. Ehl, H. Hennies, C. Klemann, 2017 .

Ruxolitinib Controls Lymphoproliferation and Diabetes in a STAT3-GOF Patient

C. Speckmann, Matthew B. Johnson, Oliver Wegehaupt, 2020, Journal of Clinical Immunology.

Activated Phosphoinositide 3-Kinase δ Syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.

A. Schulz, V. Lougaris, A. Plebani, 2023, Journal of Allergy and Clinical Immunology.

Clinical spectrum and features of activated phosphoinositide 3-kinase syndrome: Alarge patient cohort study

J. Casanova, S. Nejentsev, P. Palma, 2016 .