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Immunodeficiency Diseases
Immunodeficiency disorders are conditions where the defence mechanism of the body is impaired. They show enhanced susceptibility to infection with...
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Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home
Background and AimsSubcutaneous immunoglobulin (SCIG) home infusion is widely used as an alternative to intravenous immunoglobulin (IVIG). This study...
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Effects of Body Mass and Age on the Pharmacokinetics of Subcutaneous or Hyaluronidase-facilitated Subcutaneous Immunoglobulin G in Primary Immunodeficiency Diseases
PurposeTo assess the pharmacokinetics (PK) of subcutaneous immunoglobulin (SCIG) and hyaluronidase-facilitated SCIG (fSCIG) therapy across body mass...
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Psychosocial Evaluation of Adults with Primary Immunodeficiency
PurposePrimary immunodeficiency disorder (PID) is a heterogeneous group of diseases characterized by immune dysregulation and increased...
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Missed Opportunities to Diagnose Common Variable Immunodeficiency: a Population-Based Case–Control Study Identifying Indicator Diseases for Common Variable Immunodeficiency
PurposeDelayed diagnosis of common variable immunodeficiency (CVID) remains a serious problem. We investigated whether some diseases diagnosed during...
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Analysis of five cases of monogenic lupus related to primary immunodeficiency diseases
Objective and designWe studied five cases of PID-related monogenic lupus to explore the characteristics.
Material or subjectsAmong 42 cases of PID...
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Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease
PurposeDiarrhea lasting longer than 14 days which fails to respond to conventional management is defined as severe and protracted diarrhea and might...
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Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)
Kabuki Syndrome (KS) is a multisystemic genetic disorder. A portion of patients has immunological manifestations characterized by increased...
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Health-Related Quality of Life of Patients and Families with Primary Immunodeficiency in Malaysia: a Cross-Sectional Study
PurposePrimary immunodeficiency disease (PID) affects various aspects of a patient’s life. However, the health-related quality of life (HRQOL) of PID...
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The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase
PurposeInborn errors of immunity (IEI) represent a heterogeneous group of rare genetically determined diseases. In some cases, patients present with...
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18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency
Patients with chromosome 18q deletion syndrome generally experience hypogammaglobulinemia. Herein, we describe two patients with chromosome 18q...
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Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey
BackgroundDue to the absence of curative treatments for inborn errors of immunity (IEI), children born with IEI require long-term follow-up for...
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SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma
Increased susceptibility to develop severe forms of Epstein-Barr virus (EBV) infection in early age is a significant hallmark of an underlying...
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Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases
PurposeThe purpose of our study was to compare the safety and efficacy of hematopoietic cell transplantation (HCT) using fludarabine (Flu)-based...
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Recurrent Infections in an Ethiopian Boy with Autosomal Recessive Major Histocompatibility Complex Type I Deficiency: a Case Report on a Very Rare Primary Immunodeficiency Disorder and a Review of Principles in Evaluation and Management
Little is known about major histocompatibility complex type I deficiency, a rare form of primary immunodeficiency. This report describes the...
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IgG antibody response to pneumococcal-conjugated vaccine (Prevenar®13) in children with immunodeficiency disorders
Measurement of anti-pneumococcal capsular polysaccharides (anti-PnPs) IgG titers is an important tool in the immunologic assessment of patients with...
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A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency
Recently, heterozygous loss-of-function NFKB1 variants were identified as the primary cause of common variable immunodeficiency (CVID) in the...
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Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants
PurposeThe MRE11-RAD50-NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks. Pathogenic variants in NBN and MRE11 ...
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Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network
Ataxia telangiectasia (AT) is a rare neurodegenerative genetic disorder due to bi-allelic mutations in the Ataxia Telangiectasia Mutated ( ATM ) gene....
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Risk Factors of Pneumonia in Primary Antibody Deficiency Patients Receiving Immunoglobulin Therapy: Data from the US Immunodeficiency Network (USIDNET)
BackgroundDespite immunoglobulin replacement (IgRT) therapy, some patients with primary antibody deficiency (PAD) continue to develop respiratory...