Recurrent Talaromyces Marneffei Infection Revealing X-Linked Hyper IgM Syndrome in an HIV-Negative Infant: A Diagnostic and Therapeutic Challenge.

Clinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriers.

Granulomatous and Lymphocytic Interstitial Lung Disease in Hyper-IgM Syndrome.

A rare case report of activated PI3K delta syndrome (APDS): diagnostic pitfalls.

Acquired Renal Amyloidosis in a Patient With X-Linked Hyper-IgM Immunodeficiency With Novel Hemizygotic Pathogenic Variant in CD40LG Gene.

Rare coexistence of X-linked hyper immunoglobulin M syndrome and polyarticular juvenile idiopathic arthritis in a Chinese child: A case report.

Insights on SNPs of Human Activation-Induced Cytidine Deaminase AID.

Clinical relevance of loss-of-function mutations of NEMO/IKBKG.

Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management.

Case Report: CD40LG Arg203Ile variant underlies atypical phenotype of X-linked hyper IgM syndrome.

Non-tuberculous mycobacterial lymphadenitis in an infant with Hyper IgM Syndrome: A rare case report.

CD40 ligand: the essential link in B/T cell collaboration and immune activation.

Enhanced T-cell immunity and lower humoral responses following 5-dose SARS-CoV-2 vaccination in patients with inborn errors of immunity compared with healthy controls.

Prolonged pediatric intensive care unit (PICU) admission, challenges in diagnosis and treatment in a child with hyper IgM syndrome in a tertiary hospital in Tanzania: a case report.

Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report.

Longitudinal monitoring of class-switched memory-B cell proportions identifies plausible germinal center failure in patients with suspected immune disorders.

Allogeneic haematopoietic stem-cell transplantation for children with refractory systemic juvenile idiopathic arthritis and associated lung disease: outcomes from an international, retrospective cohort study.

Mechanotransduction governs CD40 function and underlies X-linked hyper-IgM syndrome.

Clinical and immunological features of four patients with activation-induced cytidine deaminase deficiency: Renal amyloidosis and other presentations.

Immunoglobulin class-switch recombination: Mechanism, regulation, and related diseases.

Antibody Response Before and After the Booster Dose of Inactivated Corona Vaccine in Antibody Deficient Patients.

Orbital apex syndrome secondary to Pseudomonas aeruginosa sinusitis in a child with hyperimmunoglobulin M syndrome.

A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.

A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome.

Compound Heterozygosity in Hyper‑IgM Syndrome Type 3: Case Report and Literature Review.

Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.

Use of Metagenomic Next-Generation Sequencing in the Identification of Pneumocystis Jiroveci Pneumonia in a Previously Healthy Infant Diagnosed With X-Linked Hyper-IgM Syndrome.

Intramural Duodenal Hematoma in a Case of Hyper IgM Syndrome.

Late diagnosis of X-linked hyper-IgM syndrome presenting as community-acquired Pseudomonas aeruginosa pneumonia-related septic shock.

Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.

CD40L Activates Platelet Integrin αIIbβ3 by Binding to the Allosteric Site (Site 2) in a KGD-Independent Manner and HIGM1 Mutations Are Clustered in the Integrin-Binding Sites of CD40L.

Assessment of Enterovirus Excretion and Identification of VDPVs in Patients with Primary Immunodeficiency in India: Outcome of ICMR-WHO Collaborative Study Phase-I.

Elevated levels of enteric IgA in an unimmunised mouse model of Hyper IgM syndrome derived from gut-associated secondary lymph organs even in the absence of germinal centres.

Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome.

Late-Onset Lymphopenia and ITP in a Patient with Hyper IgM Syndrome Due to a Homozygous Variant in AICDA.

[Hyper-IgM syndrome with early liver involvement].

CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report.

Type 2 hyper-IgM syndrome with a rare variant of AICDA gene mutation in a young woman.

Hyper-IgM and acquired C1q complement deficiency in a patient with de novo  ATM mutation.

A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.

Progressive Multifocal Leukoencephalopathy With Hyper-IgM Syndrome in a 6-Year-Old Boy.

Case report: Hemophagocytic lymphohistiocytosis in a child with primary immunodeficiency infected with Talaromyces marneffei.

X-linked hyper-immunoglobulin M syndrome harboring a novel CD40-ligand gene mutation: a case report.

Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China.

A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.

Immunodeficiency Hiding in Plain Sight.

Somatic hypermutation defects in two adult hyper immunoglobulin M patients.

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Exome sequencing contributes to identify comorbidities in a rare case of infant ARDS induced by the CD40LG mutation.

Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.

[Clinical effect of allogeneic hematopoietic stem cell transplantation in children with hyper-IgM syndrome].

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.

X-linked hyper IgM syndrome with severe eosinophilia: a case report and review of the literature.

Bronchial inflammation biomarker patterns link humoral immunodeficiency with bronchiectasis-related small airway dysfunction.

Atypical Autosomal Recessive AID Deficiency-Yet Another Piece of the Hyper-IgM Puzzle.

Hyper-IgM syndrome resulting from heterozygous AICDA variants: A European first?

Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation.

Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.

A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting.

Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles.

Pulmonary Radiological Manifestations of Humoral and Combined Immunodeficiencies in a Tertiary Pediatric Center.

Understanding neutropenia secondary to intrinsic or iatrogenic immune dysregulation.

Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients.

A Novel Point-of-Care Rapid Diagnostic Test for Screening Individuals for Antibody Deficiencies.

Transient increased immunoglobulin levels in a hyper-IgM syndrome patient with COVID-19 infection.

X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia.

[Unrelated umbilical cord blood stem cell transplantation in the treatment of hyper-IgM syndrome caused by CD40 ligand gene mutation: a report of three cases and literature review].

Case Report: EBV Chronic Infection and Lymphoproliferation in Four APDS Patients: The Challenge of Proper Characterization, Therapy, and Follow-Up.

Natural Course of Activated Phosphoinositide 3-Kinase Delta Syndrome in Childhood and Adolescence.

Cryptococcal Meningitis and Post-Infectious Inflammatory Response Syndrome in a Patient With X-Linked Hyper IgM Syndrome: A Case Report and Review of the Literature.

Primary Hypogammaglobulinaemia with Inflammatory Bowel Disease-Like Features: An ECCO CONFER Multicentre Case Series.

One-year intravenous immunoglobulin replacement therapy: efficacy in reducing hospital admissions in pediatric patients with Inborn Errors of Immunity.

CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.

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

Mitochondrial DNA insert into CD40 ligand gene-associated X-linked hyper-IgM syndrome.

Photoclinic: Cryptosporidiosis in Hyper IgM Syndrome.

Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases.

Modeling, optimization, and comparable efficacy of T cell and hematopoietic stem cell gene editing for treating hyper-IgM syndrome.

Domino donor lymphocyte infusion for secondary poor graft function after HLA-mismatched allogeneic stem cell transplantation between HLA-identical sibling pairs with congenital immunodeficiency.

[Genetic analysis of a child with co-commitment progressive multifocal leukoencephalopathy and X-linked hyper IgM syndrome].

The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS).

Novel mutations in hyper-IgM syndrome type 2 and X-linked agammaglobulinemia detected in three patients with primary immunodeficiency disease.

Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it.

Nodular Lymphoid Hyperplasia of the Rectum in a Patient With Primary Immunodeficiency.

A novel activation-induced cytidine deaminase mutation in an adult with hyper-immunoglobulin M syndrome.

A Hyper-IgM Syndrome Mutation in Activation-Induced Cytidine Deaminase Disrupts G-Quadruplex Binding and Genome-wide Chromatin Localization.

Childhood choreoathetosis secondary to hyper-IgM syndrome (CD40 ligand deficiency).

Diagnosis of Hyper IgM syndrome in a Previously Healthy Adolescent Boy Presented with Cutaneous and Cerebral Cryptococcosis.

Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis.

AA Amyloidosis Secondary to Primary Immune Deficiency: About 40 Cases Including 2 New French Cases and a Systematic Literature Review.

Bell's palsy in a pediatric patient with hyper IgM syndrome and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).

Inflammatory aortitis in a patient with type 2 hyper IgM syndrome.

B Cell Disorders in Children: Part II.

Hyper IgM Syndrome Type 2 Presenting as Intestinal Lymphoid Polyposis Without Recurrent Infection.

Pulmonary Alveolar Proteinosis Due to Pneumocystis carinii in Type 1 Hyper-IgM Syndrome: A Case Report.

Evaluation of Radiation Sensitivity in Patients with Hyper IgM Syndrome.

Interstitial pneumonia as the initial presentation in an infant with a novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome: A case report.

Comprehensive RNA-Seq profiling of the lung transcriptome of Argali hybrid sheep in response to experimental Mycoplasma ovipneumoniae infection.

Complex preimplantation genetic tests for Robertsonian translocation, HLA, and X-linked hyper IgM syndrome caused by a novel mutation of CD40LG gene.

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.

X-Linked Hyper IgM Syndrome Manifesting as Recurrent Pneumocystis jirovecii Pneumonia: A Case Report.

Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys.

Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants.

[Immunodeficiency diseases with interstitial lung disease as major clinical manifestations: report of six cases].

Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients.

A 23-Year-Old Man with Hyper-IgM Syndrome Presenting with Asymptomatic Violaceous Facial Plaques.

Diagnostic approach of hypogammaglobulinemia in infancy.

X-Linked Hyper IgM Syndrome Presenting with Recurrent Tuberculosis-a Case Report.

Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.

X-linked hyper-IgM syndrome complicated with interstitial pneumonia and liver injury: a new mutation locus in the CD40LG gene.

Primary immunodeficiency disease: a retrospective study of 112 Chinese children in a single tertiary care center.

Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Talaromyces marneffei Infection in HIV-Negative Children.

Hashimoto encephalopathy as manifestation of central nervous system chronic graft-versus-host disease after hematopoietic stem cell transplantation.

FATAL cryptococcal meningitis in a child with hyper-immunoglobulin M syndrome, with an emphasis on the agent.

A Novel CD40L Mutation Associated with X-Linked Hyper IgM Syndrome in a Chinese Family.

Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling.

Respiratory Complications in Patients with Hyper IgM Syndrome.

Primary Immunodeficiency Disorders Among North Indian Children.

Clinical Manifestations, Immunological Characteristics and Genetic Analysis of Patients with Hyper-Immunoglobulin M Syndrome in Iran.

Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.

Chronic Cholangiopathy Associated with Primary Immune Deficiencies Can Be Resolved by Effective Hematopoietic Stem Cell Transplantation.

PIK3R1 Mutation Associated with Hyper IgM (APDS2 Syndrome): A Case Report and Review of the Literature.

Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immune Deficiency Disorders in Children: Challenges and Outcome from a Tertiary Care Center in South India.

Pneumocystis jirovecii pneumonia as an initial manifestation of hyper-IgM syndrome in an infant: A case report.

Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome.

CD40 ligand deficiency: treatment strategies and novel therapeutic perspectives.

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

A novel ATM mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas.

Humoral immunodeficiencies: conferred risk of infections and benefits of immunoglobulin replacement therapy.

A tetrameric form of CD40 ligand with potent biological activities in both mouse and human primary B cells.

Disseminated cryptococcosis in two boys with novel mutation of CD40 Ligand-Associated X-linked hyper-IgM syndrome.

The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.

Infectious etiology of chronic diarrhea in patients with primary immunodeficiency diseases.

An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation.

Posttransplant recipient-derived CD4+ T-cell lymphoproliferative disease in X-linked hyper-IgM syndrome.

Primary B-cell immunodeficiencies.

Pillars Article: Class Switch Recombination and Hypermutation Require Activation-Induced Cytidine Deaminase (AID), a Potential RNA Editing Enzyme. Cell. 2000. 102: 553-563.

The Common Key to Class-Switch Recombination and Somatic Hypermutation: Discovery of AID and Its Role in Antibody Gene Diversification.

Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects.

Advances in site-specific gene editing for primary immune deficiencies.

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.

The RNA-binding protein ROD1/PTBP3 cotranscriptionally defines AID-loading sites to mediate antibody class switch in mammalian genomes.

Circulating Follicular Helper and Follicular Regulatory T Cells Are Severely Compromised in Human CD40 Deficiency: A Case Report.

Genetic Analysis of Patients with Two Different Types of Hyper IgM Syndrome.

Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.

Low Rates of Poliovirus Antibodies in Primary Immunodeficiency Patients on Regular Intravenous Immunoglobulin Treatment.

Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran.

Haematopoietic stem cell transplant for hyper-IgM syndrome due to CD40 defects: a single-centre experience.

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

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.

Opportunistic fungal infection in children and management.

Disseminated Cutaneous Warts in X-Linked Hyper IgM Syndrome.

Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome.

X-linked hyper-IgM syndrome associated with pulmonary manifestations: A very rare case of functional mutation in CD40L gene in Iran.

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

Evaluation of infectious and non-infectious complications in patients with primary immunodeficiency.

50 Years Ago in The Journal of Pediatrics: Familial Granulocytopenia and Associated Immunoglobulin Abnormality: Report of 3 Cases in Young Brothers.

Comprehensive review of autoantibodies in patients with hyper-IgM syndrome.

Successful Sequential Liver and Hematopoietic Stem Cell Transplantation in a Child With CD40 Ligand Deficiency and Cryptosporidium-Induced Liver Cirrhosis.

X-linked Hyper-IgM Syndrome: A Phenotype of Crohn's Disease with Hemophagocytic Lymphohistiocytosis.

Introduction: Antibody-Mediated Therapy Special Issue Part 2.

A Severe Anaphylactic Reaction Associated with IgM-Class Anti-Human IgG Antibodies in a Hyper-IgM Syndrome Type 2 Patient.

A delayed diagnosis of X-linked hyper IgM syndrome complicated with toxoplasmic encephalitis in a child: A case report and literature review.

A Novel Mutation in CD40LG Gene Causing X-Linked Hyper IgM Syndrome.

DOCK2 Deficiency in a Patient with Hyper IgM Phenotype.

Prospects for modulating the CD40/CD40L pathway in the therapy of the hyper-IgM syndrome.

Flow Cytometry Assays in Primary Immunodeficiency Diseases.

Inherited and acquired clinical phenotypes associated with neuroendocrine tumors.

Scalp Lesions in a Pediatric Patient with Hyper IgM Syndrome: Clinical and Histologic Mimicry of Cryptococcus neoformans Infection.

Activation-induced cytidine deaminase targets SUV4-20-mediated histone H4K20 trimethylation to class-switch recombination sites.

Liver disease predicts mortality in patients with X-linked immunodeficiency with hyper-IgM but can be prevented by early hematopoietic stem cell transplantation.

[Clinical and immunological profile of 15 Moroccan patients with Hyper IgM syndrome].

Flow cytometry-based diagnosis of primary immunodeficiency diseases.

Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases.

Recent advances in the study of immunodeficiency and DNA damage response.

Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome.

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.

The clinical significance of complete class switching defect in Ataxia telangiectasia patients.

Ataxia-telangiectasia: Immunodeficiency and survival.

Fatal Scopulariopsis brumptii in a Pediatric Immunocompromised Host.

Clinical Phenotypes of Hyper-IgM Syndromes.

[Recurrent fever, hepatosplenomegaly and eosinophilia in a boy].

Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity.

Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate.

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

Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs.

Hyper IgM Syndrome with low IgM and thrombocytosis: an unusual case of immunodeficiency.

Prospective evaluation of Streptococcus pneumoniae serum antibodies in patients with primary immunodeficiency on regular intravenous immunoglobulin treatment.

X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis.

Bronchus-associated Lymphoid Tissue in Kabuki Syndrome with Associated Hyper-IgM Syndrome/Common Variable Immunodeficiency.

Structural analysis of the activation-induced deoxycytidine deaminase required in immunoglobulin diversification.

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.

Hyper IgM Syndrome: a Report from the USIDNET Registry.

[Primary hypogammaglobulinemia complicated with liver cirrhosis and literature review].

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland.

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

p85α is an intrinsic regulator of human natural killer cell effector functions.