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Autoimmune Retinopathy Complicating -related Monogenic Interferonopathy
Autoimmune Retinopathy Complicating -related Monogenic Interferonopathy
Gain-of-function variants in the TLR7 gene have been associated with a spectrum of clinical manifestations, including syst...
A Novel MSN Mutation Impairs CD4 T cell Differentiation and Drives Autoantibody Production
A Novel MSN Mutation Impairs CD4 T cell Differentiation and Drives Autoantibody Production
To report a patient with a novel MSN mutation causing X-linked moesin-associated immunodeficiency (X-MAID) and investigate...
FXII Frameshift Variant Does Not Cause Hereditary Angioedema with Normal C1 Inhibitor
FXII Frameshift Variant Does Not Cause Hereditary Angioedema with Normal C1 Inhibitor
Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4....
Disseminated Tuberculosis and Early-Onset SLE in a Child with a Novel STAT1 Gain-of-Function Mutation: a Case Report
Disseminated Tuberculosis and Early-Onset SLE in a Child with a Novel STAT1 Gain-of-Function Mutation: a Case Report
Gain-of-function (GOF) mutations in the STAT1 gene result in heightened interferon signaling and impaired IL-17 immunity. ...
Adult-Onset LRBA Deficiency Presenting with Rheumatoid Arthritis–Like Manifestations: A Case Report
Adult-Onset LRBA Deficiency Presenting with Rheumatoid Arthritis–Like Manifestations: A Case Report
Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency is a primary inborn error of immunity characteri...
A Detrimental Missense Variant is Associated with Hypogammaglobulinemia
A Detrimental Missense Variant is Associated with Hypogammaglobulinemia
NFKB2 encodes the precursor p100 which undergoes processing to generate the mature NF-κB2 transcription factor subuni...
Interstitial Lung Disease in a Girl with Prolidase Deficiency
Interstitial Lung Disease in a Girl with Prolidase Deficiency
In this study, the girl was diagnosed with PD through a combination of clinical manifestation, genetic testing, and functi...
Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation
Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation
Signal transducer and activator of transcription 3 (STAT3) plays a key role in leukocytic and non-leukocytic cells. Germ l...
Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening
Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening
Reticular dysgenesis (RD) is a rare inborn error of immune cell formation defined by severe combined immunodeficiency, agr...
Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond
Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond
Human inborn errors of immunity (IEI) represent a diverse group of genetic disorders affecting the innate and/or adaptive ...
X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation
X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation
Deficiency in ELF4, X-linked (DEX) is a newly identified monogenic autoinflammatory disease. Most reported cases are male,...
Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report
Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report
GATA2 deficiency, a rare inborn error of immunity, presents with highly variable phenotypes. Bone marrow (BM) changes such...
Successful Treatment with Sirolimus of a Patient with a Novel Germline Mutation in B-Cell Expansion with Nuclear Factor Kappa B and T-Cell Anergy: Case Report and Literature Review
Successful Treatment with Sirolimus of a Patient with a Novel Germline Mutation in B-Cell Expansion with Nuclear Factor Kappa B and T-Cell Anergy: Case Report and Literature Review
B-cell expansion with nuclear factor kappa B and T-cell anergy (BENTA) is an inborn error of immunity characterized by con...
Clinical Characteristics and Outcomes of Pediatric Cases Presenting with Possible Pulmonary Vasculitis Following COVID-19 Infection
Clinical Characteristics and Outcomes of Pediatric Cases Presenting with Possible Pulmonary Vasculitis Following COVID-19 Infection
There is growing evidence that infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is associated w...
No Association Between HLH-associated Gene Variants and Life-Threatening COVID-19
No Association Between HLH-associated Gene Variants and Life-Threatening COVID-19
COVID-19 mortality is often accompanied by excessive proinflammatory cytokine release...
Efficacy, Safety, Tolerability, and Serum IgG Trough Levels of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% in US Pediatric Patients with Primary Immunodeficiency Diseases
Efficacy, Safety, Tolerability, and Serum IgG Trough Levels of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% in US Pediatric Patients with Primary Immunodeficiency Diseases
To investigate the efficacy, safety, tolerability, and serum IgG trough levels of hyaluronidase-facilitated subcutaneous i...
Deficiency of Adenosine Deaminase 2 Masquerading as Behçet’s Disease: Phenotypic Mimicry with HLA-B*51 Positivity
Deficiency of Adenosine Deaminase 2 Masquerading as Behçet’s Disease: Phenotypic Mimicry with HLA-B*51 Positivity
Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease resulting from biallelic loss-of-...
Diagnosis, Characteristics, and Outcome of Selective Anti-polysaccharide Antibody Deficiencies In A Retrospective Cohort of 55 Adult Patients
Diagnosis, Characteristics, and Outcome of Selective Anti-polysaccharide Antibody Deficiencies In A Retrospective Cohort of 55 Adult Patients
Selective anti-polysaccharide antibody deficiency (SPAD) predisposes to encapsulated bacterial infections. The diagnosis i...
Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy
Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy
The safety and tolerability of elapegademase (elapegademase-lvlr; Revcovi®) a PEGylated recombinant adenosine deamina...
DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia
DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia
The life-threatening coronavirus disease 2019 (COVID-19) affects about 1 in 1,000 healthy people under 50 without underlyi...
A Novel Description of Immunodeficiency and Immune Dysregulation in a 14-Year-Old Girl with Noonan Syndrome 13
A Novel Description of Immunodeficiency and Immune Dysregulation in a 14-Year-Old Girl with Noonan Syndrome 13
Patients with pathogenic variants in the Ras-ERK pathway (Ras-opathies) can present with a broad array of clinical feature...
Enterobacter cloacae, a Rare Cause of Cervical Lymphadenitis in X-Linked Chronic Granulomatous Disease
Enterobacter cloacae, a Rare Cause of Cervical Lymphadenitis in X-Linked Chronic Granulomatous Disease
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USACooper PennerDivision of Immunology and Alle...
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings
Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, et al. Improving cellular therapy for primary immu...
A Case Report of Folliculin-Interacting Protein 1 Deficiency
A Case Report of Folliculin-Interacting Protein 1 Deficiency
Ethics Approval Genetic studies and data collection procedu...
Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients
Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients
Granulomatous lymphocytic interstitial lung disease (GLILD) represents a fatal immune dysregulatory complication in common...
“The Regimental Pediatrician”: the Finnish Child Refugees and the Temporary Children’s Hospital
“The Regimental Pediatrician”: the Finnish Child Refugees and the Temporary Children’s Hospital
Publisher's NoteSpringer Nature remains neutral with regard to jurisdictional claims in published maps and institutional a...
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association
GATA2 deficiency is a rare disorder encompassing a broadly variable phenotype and its clinical picture is continuously evo...
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
Centro Tettamanti, Fondazione IRCCS San Gerardo Dei Tintori, Monza, ItalyFrancesco Saettini, Grazia Fazio, Cristina Bugari...
Respiratory Comorbidities Associated with Bronchiectasis in Patients with Common Variable Immunodeficiency in the USIDNET Registry
Respiratory Comorbidities Associated with Bronchiectasis in Patients with Common Variable Immunodeficiency in the USIDNET Registry
Bronchiectasis is a major respiratory complication in patients with common variable immunodeficiency (CVID) and is associa...
An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation
An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation
While most missense mutations of the IKBKG gene typically result in Ectodermal Dysplasia with Immunodefi...
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