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List of works by Andrew R Gennery

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Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

scientific article
Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?

scientific article published on 31 July 2010
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

scientific article
Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study

scientific article published on 23 October 2013
Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells.

scientific article published on January 2005
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

scientific article
The evolution of cellular deficiency in GATA2 mutation

scientific article published on 17 December 2013
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

scientific article
Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening

scientific article published on 27 January 2011
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

scientific article
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

scientific article
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo

scientific article published on 28 October 2011
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

scientific article published on 12 July 2012
BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies

scientific article
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis

scientific article
Treosulfan-based conditioning regimens for hematopoietic stem cell transplantation in children with primary immunodeficiency: United Kingdom experience

scholarly article by Mary A Slatter published in April 2011
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients

scientific article
Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

scientific article
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

scientific article published on 28 July 2015
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

scientific article
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

scientific article
Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I

scientific article published on 26 August 2008
Haemopoietic stem-cell transplantation with antibody-based minimal-intensity conditioning: a phase 1/2 study

scientific article published on 2 September 2009
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study

scientific article published on 21 April 2016
The clinical impact of deficiency in DNA non-homologous end-joining

scientific article published on March 11, 2014
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?

scientific article
Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002

scientific article published on 02 October 2003
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

scientific article published on 28 May 2015
Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

scientific article
Unrelated donor and HLA-identical sibling haematopoietic stem cell transplantation cure chronic granulomatous disease with good long-term outcome and growth

scientific article
Clinical features that identify children with primary immunodeficiency diseases

scientific article published on 11 April 2011
Environmental monitoring for gastroenteric viruses in a pediatric primary immunodeficiency unit

scientific article published on February 2006
Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency

scientific article
Clinical outcome in children with chronic granulomatous disease managed conservatively or with hematopoietic stem cell transplantation

scientific article published on 16 July 2013
Adoptive immunotherapy for primary immunodeficiency disorders with virus-specific T lymphocytes

scientific article (publication date: May 2016)
Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency.

scientific article
Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development

scientific article published on 07 January 2014
Single nucleotide polymorphisms and outcome risk in unrelated mismatched hematopoietic stem cell transplantation: an exploration study

scientific article
Chronic excretion of a norovirus in a child with cartilage hair hypoplasia (CHH)

scientific article published on 01 June 2004
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

scientific article
Allogeneic hematopoietic stem-cell transplantation for leukocyte adhesion deficiency

scientific article (publication date: March 2009)
Treosulfan-based conditioning for allogeneic HSCT in children with chronic granulomatous disease: a multicenter experience

scientific article published on 23 May 2016
Immunologic defects in 22q11.2 deletion syndrome

scientific article published on 16 May 2008
Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome.

scientific article published on 12 November 2016
Contamination of the hospital environment with gastroenteric viruses: comparison of two pediatric wards over a winter season

scientific article published on 9 July 2008
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

scientific article published on 6 April 2017
Long-term immune reconstitution after anti-CD52-treated or anti-CD34-treated hematopoietic stem cell transplantation for severe T-lymphocyte immunodeficiency

scientific article published on 20 December 2007
Characterization of T and B cell repertoire diversity in patients with RAG deficiency

scientific article published on 16 December 2016
Indications for haematopoietic stem cell transplantation for haematological diseases, solid tumours and immune disorders: current practice in Europe, 2019.

scientific article
Autologous T cell depleted haematopoietic stem cell transplantation in children with severe juvenile idiopathic arthritis in the UK (2000-2007).

scientific article published on 8 February 2009

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