Ulrich Pannicke

Posttransplant B cell Development and Function in Patients with B cell Positive SCID Caused by Pathogenic Variants in IL2RG and JAK3

Eva‐Maria Jacobsen, Abdallah Khazaleh, Kerstin Felgentreff, Ingrid Furlan et autres

Genetic defects in IL2RG or JAK3 can cause the phenotype of severe combined immunodeficiency (SCID) with absent T- and non-functional B-lymphocytes (T-B+ SCID). B cell function and the need for immunoglobulin replacement therapy after hematopoietic stem cell transplantation (HSCT) depends on the …

de, nl (code pays fourni par la source)

Posttransplant B cell development and function in patients with B cell positive SCID caused by pathogenic variants in IL2RG and JAK3

Eva‐Maria Jacobsen, Abdallah Khazaleh, Kerstin Felgentreff, Ingrid Furlan et autres

us, de (code pays fourni par la source)

A noncoding mutation in the NOTCH1 gene initiates oncogenic NOTCH signaling via wild-type NICD stabilization in CLL

Tugba Memis, Alena Sophie Ehrmann, Anselm Pittrof, Bernd Baumann et autres

ABSTRACT: Chronic lymphocytic leukemia (CLL) is the most common chronic blood cancer in adults. Active NOTCH signaling in CLL is associated with poorer prognosis. Importantly, patients with CLL with NOTCH1 noncoding mutations in the 3' untranslated region (3'UTR) manifested with a more …

de, us (code pays fourni par la source)

AK2‐Deficient Mice Recapitulate Impaired Lymphopoiesis of Reticular Dysgenesis Patients, but Also Lack Erythropoiesis

Rebekka Waldmann, Franziska Werner, Alpaslan Tasdogan, Felix Immanuel Maier et autres

severe combined immunodeficiency, agranulocytosis, and sensorineural deafness. We established and characterized a haematopoiesis-specific conditional Ak2-knockout mouse model to provide a model system to study the molecular pathophysiology of RD. As expected from the human phenotype of RD, haematopoiesis-specific AK2-deficient embryos had a …

de, us, au (code pays fourni par la source)

RAG recombinase expression discriminates the development of natural killer cells.

Jasmin Sprissler, Ulrich Pannicke, Eva-Maria Rump, Hubert Schrezenmeier et autres

Introduction: V(D)J recombination, initiated by recombination-activating gene (RAG) endonucleases, is a crucial process for the generation of diversified antigen receptors of T and B lymphocytes but regarded dispensable for innate natural killer (NK) lymphocytes lacking clonotypic receptors. Methods: . Results: locus. Advanced …

de, us (code pays fourni par la source)

Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti

Jessica Eigemann, Aleš Janda, Catharina Schuetz, Min Ae Lee-Kirsch et autres

PURPOSE: Genetic hypomorphic defects in X chromosomal IKBKG coding for the NF-κB essential modulator (NEMO) lead to ectodermal dysplasia and immunodeficiency in males and the skin disorder incontinentia pigmenti (IP) in females, respectively. NF-κB essential modulator (NEMO) Δ-exon 5-autoinflammatory syndrome (NEMO-NDAS) is …

de (code pays fourni par la source)

Non-skewed X-inactivation results in NF-κB essential modulator (NEMO) Δ-exon 5-autoinflammatory syndrome (NEMO-NDAS) in a female with incontinentia pigmenti

Jessica Eigemann, Aleš Janda, Catharina Schuetz, Min Ae Lee-Kirsch et autres

Purpose Genetic hypomorphic defects in X chromosomal IKBKG coding for the NF-κB essential modulator (NEMO) lead to ectodermal dysplasia and immunodeficiency in males and the skin disorder incontinentia pigmenti (IP) in females, respectively. NF-κB essential modulator (NEMO) Δ-exon 5-autoinflammatory syndrome (NEMO-NDAS) is …

Chemotherapy for a secondary malignancy nearly restores complete chimerism in an SCID-patient after HSCT

Felix Immanuel Maier, Ansgar Schulz, Ingrid Furlan, Kerstin Felgentreff et autres

For patients with inborn errors of immunity (IEI) and other inborn diseases, mixed donor chimerism is a well-accepted outcome of hematopoietic stem cell transplantation (HSCT). Cytoreductive chemotherapy for a secondary malignancy is a potential challenge for the stability of the graft function …

de (code pays fourni par la source)

Transcriptional reprogramming by mutated IRF4 in lymphoma

Nikolai Schleußner, Pierre Cauchy, Vedran Franke, Maciej Giefing et autres

Disease-causing mutations in genes encoding transcription factors (TFs) can affect TF interactions with their cognate DNA-binding motifs. Whether and how TF mutations impact upon the binding to TF composite elements (CE) and the interaction with other TFs is unclear. Here, we report …

de, gb, pl, ca, au (code pays fourni par la source)

A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation

Victor G Lui, Manfred Hoenig, Berenice Cabrera-Martinez, Ryan Michael Baxter et autres

Lymphocyte-specific protein tyrosine kinase (LCK) is essential for T cell antigen receptor (TCR)-mediated signal transduction. Here, we report two siblings homozygous for a novel LCK variant (c.1318C>T; P440S) characterized by T cell lymphopenia with skewed memory phenotype, infant-onset recurrent infections, failure to …

us, de, gb, it, ch (code pays fourni par la source)

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency

Oriol Fornés, Alicia Jia, Hye Sun Kuehn, Qing Min et autres

Interferon regulatory factor 4 (IRF4) is a transcription factor (TF) and key regulator of immune cell development and function. We report a recurrent heterozygous mutation in IRF4, p.T95R, causing an autosomal dominant combined immunodeficiency (CID) in seven patients from six unrelated families. …

ca, fr, ar, us (code pays fourni par la source)

A new type of transcriptional reprogramming by an IRF4 mutation in lymphoma

Nikolai Schleußner, Pierre Cauchy, Vedran Franke, Maciej Giefing et autres

SUMMARY PARAGRAPH Disease-causing mutations in genes encoding transcription factors (TFs) are a recurrent finding in hematopoietic malignancies and might involve key regulators of lineage adherence and cellular differentiation 1–3 . Such mutations can affect TF-interactions with their cognate DNA-binding motifs 4, 5 …

de, gb, pl, ca, au (code pays fourni par la source)