Stem cell transplantation for primary immune deficiency

Successful stem cell transplant with antibody-based conditioning for XIAP deficiency with refractory hemophagocytic lymphohistiocytosis

(2013) A. J. J. Worth et al.   BLOOD

In DOCK8 deficiency donor cell engraftment post–genoidentical hematopoietic stem cell transplantation is possible without conditioning

(2013) Hamoud Al-Mousa et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency

(2013) Melissa C. Mizesko et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency

(2013) Johann Greil et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

(2013) Daniel Kotlarz et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Reduced-intensity conditioning in unrelated donor cord blood transplantation for familial hemophagocytic lymphohistiocytosis

(2012) Masanori Nishi et al.   AMERICAN JOURNAL OF HEMATOLOGY

Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes

(2012) R. A. Marsh et al.   BLOOD

SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease

(2012) C. Rivat et al.   BLOOD

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

(2012) A. Hassan et al.   BLOOD

Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans

(2012) F. Candotti et al.   BLOOD

Alternative donor SCT for the treatment of MHC Class II deficiency

(2012) T N Small et al.   BONE MARROW TRANSPLANTATION

Omission of in vivo T-cell depletion promotes rapid expansion of naïve CD4+ cord blood lymphocytes and restores adaptive immunity within 2 months after unrelated cord blood transplant

(2012) Robert Chiesa et al.   BRITISH JOURNAL OF HAEMATOLOGY

Guidelines for newborn screening of primary immunodeficiency diseases

(2012) Stephan Borte et al.   CURRENT OPINION IN HEMATOLOGY

The Wisconsin approach to newborn screening for severe combined immunodeficiency

(2012) James Verbsky et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome

(2012) Simon T. Cliffe et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency

(2012) Fabian Hauck et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles

(2012) Jennifer M. Puck   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

(2012) Abdullah Alangari et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Post-Transplantation B Cell Function in Different Molecular Types of SCID

(2012) Rebecca H. Buckley et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Thymocytes may persist and differentiate without any input from bone marrow progenitors

(2012) Laetitia Peaudecerf et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Thymus-autonomous T cell development in the absence of progenitor import

(2012) Vera C. Martins et al.   JOURNAL OF EXPERIMENTAL MEDICINE

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

(2012) Haifa H Jabara et al.   NATURE IMMUNOLOGY

Treatment of Familial Hemophagocytic Lymphohistiocytosis with Third-Party Mesenchymal Stromal Cells

(2012) Dimitrios Mougiakakos et al.   STEM CELLS AND DEVELOPMENT

Newborn screening for SCID: three years of experience

(2011) Nicole M. Chase et al.   Annals of the New York Academy of Sciences

Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients

(2011) M. Ouederni et al.   BLOOD

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

(2011) M. A. Slatter et al.   BLOOD

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

(2011) M. Recher et al.   BLOOD

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

(2011) L. Brown et al.   BLOOD

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) R. E. Dickinson et al.   BLOOD

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

(2011) D. Moratto et al.   BLOOD

Outcome of unrelated umbilical cord blood transplantation in 88 patients with primary immunodeficiency in Japan

(2011) Tomohiro Morio et al.   BRITISH JOURNAL OF HAEMATOLOGY

Hematopoietic stem cell transplantation for CD3δ deficiency

(2011) Nufar Marcus et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Excellent survival after sibling or unrelated donor stem cell transplantation for chronic granulomatous disease

(2011) Caridad A. Martinez et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia

(2011) Joris M. van Montfrans et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

IRF8Mutations and Human Dendritic-Cell Immunodeficiency

(2011) Sophie Hambleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hematopoietic Stem Cell Gene Therapy for Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Leads to Long-Term Immunological Recovery and Metabolic Correction

(2011) H. B. Gaspar et al.   Science Translational Medicine

Allogeneic Stem Cell Transplantation Using Myeloablative and Reduced-Intensity Conditioning in Patients with Major Histocompatibility Complex Class II Deficiency

(2010) Hamoud Al-Mousa et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation

(2010) R. A. Marsh et al.   BLOOD

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

(2010) C. Booth et al.   BLOOD

Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation

(2010) S A Gatz et al.   BONE MARROW TRANSPLANTATION

Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes

(2010) Rebecca H. Buckley   IMMUNOLOGIC RESEARCH

Successful Long-Term Correction of Autosomal Recessive Hyper-IgE Syndrome due to DOCK8 Deficiency by Hematopoietic Stem Cell Transplantation

(2010) T. C. Bittner et al.   KLINISCHE PADIATRIE

MHC class II deficiency cured by unrelated mismatched umbilical cord blood transplantation: Case report and review of 68 cases in the literature

(2010) M. Siepermann et al.   PEDIATRIC TRANSPLANTATION

How I treat ADA deficiency

(2009) H. B. Gaspar et al.   BLOOD

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

(2009) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

XIAP discriminates between type I and type II FAS-induced apoptosis

(2009) Philipp J. Jost et al.   NATURE

Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production

(2009) Katrina L Randall et al.   NATURE IMMUNOLOGY

Combined Immunodeficiency Associated withDOCK8Mutations

(2009) Qian Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE