CD40 ligand deficiency: treatment strategies and novel therapeutic perspectives

CD40 ligand deficiency causes functional defects of peripheral neutrophils that are improved by exogenous IFN-γ

(2018) Otavio Cabral-Marques et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Site-Specific Gene Editing of Human Hematopoietic Stem Cells for X-Linked Hyper-IgM Syndrome

(2018) Caroline Y. Kuo et al.   Cell Reports

Flow cytometry-based diagnosis of primary immunodeficiency diseases

(2018) Hirokazu Kanegane et al.   ALLERGOLOGY INTERNATIONAL

A Novel de Novo Mutation in the CD40 Ligand Gene in a Patient With a Mild X-Linked Hyper-IgM Phenotype Initially Diagnosed as CVID: New Aspects of Old Diseases

(2018) Tábata T. França et al.   Frontiers in Pediatrics

Granulocyte colony-stimulating factor receptor signaling in severe congenital neutropenia, chronic neutrophilic leukemia, and related malignancies

(2017) Pankaj Dwivedi et al.   EXPERIMENTAL HEMATOLOGY

Update on the use of immunoglobulin in human disease: A review of evidence

(2017) Elena E. Perez et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2017) M. Teresa de la Morena et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human CD40 ligand deficiency dysregulates the macrophage transcriptome causing functional defects that are improved by exogenous IFN-γ

(2017) Otavio Cabral-Marques et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome

(2016) Nicholas Hubbard et al.   BLOOD

Exome and genome sequencing for inborn errors of immunity

(2016) Isabelle Meyts et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hyper IgM Syndrome: a Report from the USIDNET Registry

(2016) Emily A. Leven et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Clinical Phenotypes of Hyper-IgM Syndromes

(2016) M. Teresa de la Morena   Journal of Allergy and Clinical Immunology-In Practice

Gene therapy for monogenic disorders of the bone marrow

(2015) Sujal Ghosh et al.   BRITISH JOURNAL OF HAEMATOLOGY

Practice parameter for the diagnosis and management of primary immunodeficiency

(2015) Francisco A. Bonilla et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan

(2015) Kanako Mitsui-Sekinaka et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hematopoietic Stem Cell Transplantation for CD40 Ligand Deficiency: Single Institution Experience

(2015) Heather Allewelt et al.   PEDIATRIC BLOOD & CANCER

Hematopoietic stem cell transplant for hyper-IgM syndrome due to CD40L defects: A single-center experience

(2015) Bandar Al-Saud et al.   PEDIATRIC TRANSPLANTATION

X-linked hyper IgM syndrome: Clinical, immunological and molecular features in patients from India

(2014) Manisha Madkaikar et al.   BLOOD CELLS MOLECULES AND DISEASES

A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity

(2014) Nurşen C. Günaydin et al.   CLINICAL IMMUNOLOGY

Stem cell transplantation for primary immunodeficiency diseases

(2014) Sung-Yun Pai et al.   Current Opinion in Allergy and Clinical Immunology

First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes

(2014) Otavio Cabral-Marques et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Transplantation Outcomes for Severe Combined Immunodeficiency, 2000–2009

(2014) Sung-Yun Pai et al.   NEW ENGLAND JOURNAL OF MEDICINE

Considerations for a Successful RNA Trans-splicing Repair of Genetic Disorders

(2014) Ulrich Koller et al.   Molecular Therapy-Nucleic Acids

Guidelines for the use of human immunoglobulin therapy in patients with primary immunodeficiencies in Latin America

(2013) A. Condino-Neto et al.   ALLERGOLOGIA ET IMMUNOPATHOLOGIA

The Hyper IgM Syndromes

(2013) Nashmia Qamar et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again

(2013) Armin Hirbod-Mobarakeh et al.   Expert Review of Clinical Immunology

Platelet shedding of CD40L is regulated by matrix metalloproteinase-9 in abdominal sepsis

(2013) M. Rahman et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Clinical Features and Genetic Analysis of Taiwanese Patients With the Hyper IgM Syndrome Phenotype

(2013) Wen-I Lee et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Soluble CD40 ligand impairs the anti-platelet function of peripheral blood angiogenic outgrowth cells via increased production of reactive oxygen species

(2013) Lara Khzam et al.   THROMBOSIS AND HAEMOSTASIS

Adverse Effects of Human Immunoglobulin Therapy

(2013) E. Richard Stiehm   TRANSFUSION MEDICINE REVIEWS

Antibiotic Prophylaxis in Primary Immune Deficiency Disorders

(2013) Merin Kuruvilla et al.   Journal of Allergy and Clinical Immunology-In Practice

Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome

(2012) A Vargas-Hernández et al.   CLINICAL GENETICS

CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndrome

(2012) Xiying Fan et al.   CLINICAL IMMUNOLOGY

Gene Therapy for Primary Immunodeficiencies

(2012) Christine Rivat et al.   HUMAN GENE THERAPY

Evaluation of a patient with hyper-IgM syndrome

(2012) Burcin Uygungil et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought

(2012) Ahmed Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Successful haploidentical PBSCT with subsequent T-cell addbacks in a boy with HyperIgM syndrome presenting as severe congenital neutropenia

(2012) Aleksandra Jasinska et al.   PEDIATRIC TRANSPLANTATION

Immunoglobulin class-switch recombination deficiencies

(2012) Anne Durandy et al.   ARTHRITIS RESEARCH & THERAPY

Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand

(2011) A. Jain et al.   BLOOD

Adjunctive therapy with interferon-gamma for the treatment of pulmonary tuberculosis: a systematic review

(2011) X.-F. Gao et al.   INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES

Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis

(2011) Otavio Cabral Marques et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Expanding the Clinical and Genetic Spectrum of Human CD40L Deficiency: The Occurrence of Paracoccidioidomycosis and Other Unusual Infections in Brazilian Patients

(2011) Otavio Cabral-Marques et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The Role of CD40/CD40 Ligand Interactions in Bone Marrow Granulopoiesis

(2011) Irene Mavroudi et al.   TheScientificWorldJOURNAL

Update on the hyper immunoglobulin M syndromes

(2010) E. Graham Davies et al.   BRITISH JOURNAL OF HAEMATOLOGY

Impact of trough IgG on pneumonia incidence in primary immunodeficiency: A meta-analysis of clinical studies

(2010) Jordan S. Orange et al.   CLINICAL IMMUNOLOGY

Pitfalls of “hyper”-IgM syndrome: a new CD40 ligand mutation in the presence of low IgM levels. A case report and a critical review of the literature

(2010) A. Heinold et al.   INFECTION

Microvascular thrombosis and CD40/CD40L signaling

(2010) F. N. E. GAVINS et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Clinical Use of Interferon-γ

(2009) Catriona H.T. Miller et al.   Annals of the New York Academy of Sciences

CD40 Ligand Deficiency: Neurologic Sequelae With Radiographic Correlation

(2009) Shrinivas Bishu et al.   PEDIATRIC NEUROLOGY

The Use of Immunoglobulin Therapy for Patients With Primary Immune Deficiency: An Evidence-Based Practice Guideline

(2009) Nadine Shehata et al.   TRANSFUSION MEDICINE REVIEWS

The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases

(2008) Saleh Al-Muhsen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene

(2008) P F K Yong et al.   JOURNAL OF CLINICAL PATHOLOGY