Primary Immunodeficiency Diseases

Genetic immunologic deficiency diseases and syndromes due to mutations in genes involved in IMMUNITY generally characterized by an increased susceptibility to infectious diseases. They are often associated with AUTOIMMUNE DISEASE manifestations.

Also Known As:

Antibody Deficiency, Primary; Deficiency, Primary Immune; Immune Deficiency, Primary; Immunodeficiency Disease, Congenital; Immunodeficiency Disease, Inherited; Immunodeficiency Disease, Primary; Immunodeficiency Diseases, Congenital; Immunodeficiency Diseases, Inherited; Immunodeficiency Diseases, Primary; Immunodeficiency Disorder, Congenital; Immunodeficiency Disorder, Inherited; Immunodeficiency Disorder, Primary; Immunodeficiency Disorders, Congenital; Immunodeficiency Disorders, Inherited; Immunodeficiency Syndrome, Congenital; Immunodeficiency Syndrome, Inherited; Immunodeficiency Syndrome, Primary; Immunodeficiency Syndromes, Congenital; Immunodeficiency Syndromes, Inherited; Immunodeficiency Syndromes, Primary; Inherited Immunodeficiency Syndrome; Primary Antibody Deficiency; Primary Immune Deficiencies; Primary Immunodeficiency Syndrome; Congenital Immunodeficiency Disease; Congenital Immunodeficiency Diseases; Congenital Immunodeficiency Disorder; Congenital Immunodeficiency Disorders; Congenital Immunodeficiency Syndrome; Congenital Immunodeficiency Syndromes; Inherited Immunodeficiency Disease; Inherited Immunodeficiency Diseases; Inherited Immunodeficiency Disorder; Inherited Immunodeficiency Disorders; Inherited Immunodeficiency Syndromes; Primary Antibody Deficiencies; Primary Antibody Deficiency Disorder; Primary Antibody Deficiency Disorders; Primary Antibody Deficiency Syndrome; Primary Antibody Deficiency Syndromes; Primary Immune Deficiency; Primary Immune Deficiency Disease; Primary Immune Deficiency Diseases; Primary Immune Deficiency Disorder; Primary Immune Deficiency Disorders; Primary Immune Deficiency Syndrome; Primary Immune Deficiency Syndromes; Primary Immunodeficiency Disease; Primary Immunodeficiency Disorder; Primary Immunodeficiency Disorders; Primary Immunodeficiency Syndromes

Networked: 1189 relevant articles (50 outcomes, 92 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Infections
2.	Neoplasms (Cancer)
3.	Autoimmune Diseases (Autoimmune Disease)
4.	Hematologic Neoplasms (Hematological Malignancy)
5.	COVID-19

Experts

1.	Aghamohammadi, Asghar: 33 articles (04/2022 - 12/2004)
2.	Rezaei, Nima: 27 articles (01/2022 - 12/2006)
3.	Abolhassani, Hassan: 24 articles (04/2022 - 11/2009)
4.	Ochs, Hans D: 22 articles (01/2022 - 01/2002)
5.	Wasserman, Richard L: 18 articles (01/2022 - 07/2006)
6.	Yazdani, Reza: 16 articles (04/2022 - 01/2016)
7.	Berger, Melvin: 16 articles (01/2018 - 09/2002)
8.	Ballow, Mark: 15 articles (08/2022 - 05/2002)
9.	Notarangelo, Luigi D: 15 articles (01/2020 - 01/2002)
10.	Sullivan, Kathleen E: 14 articles (10/2022 - 01/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Primary Immunodeficiency Diseases:

1.	Immunoglobulins (Immunoglobulin)IBA 03/01/2009 - "The primary antibody deficiency syndromes are a group of rare disorders characterized by an inability to produce clinically effective immunoglobulin responses. " 07/01/2023 - "Ig20Gly is a 20% immunoglobulin formulation effective and safe in patients with primary immune deficiency diseases (PIDDs). " 05/01/2006 - "Safety and efficacy of self-administered subcutaneous immunoglobulin in patients with primary immunodeficiency diseases." 01/01/2022 - "Long-term safety of facilitated subcutaneous immunoglobulin treatment in pregnant women with primary immunodeficiency diseases: results from a registry study." 01/01/2022 - "Aim: While facilitated subcutaneous immunoglobulin (fSCIG) has been evaluated in pediatric patients with primary immunodeficiency diseases in clinical trials, real-world data are lacking. "
2.	Intravenous Immunoglobulins (IVIG)FDA Link 01/01/2014 - "Subcutaneous or intravenous immunoglobulin replacement is the mainstay of treatment for most patients with primary immunodeficiency disease (PID). " 01/01/2022 - "Human IG preparations for intravenous (IVIG) or subcutaneous (SCIG) administration are the mainstay of treatment in patients with primary immunodeficiency diseases. " 07/01/2010 - "Treatment with intravenous immunoglobulin (IVIG) is considered a safe therapy for patients with primary antibody deficiencies (PADs), whilst adverse effects have been frequently reported. " 10/01/2018 - "To assess the safety and efficacy of an intravenous immunoglobulin (IVIG) 10% preparation (Panzyga®; Octapharma AG, Lachen, Switzerland) in predominantly antibody-deficient children with primary immunodeficiency disease. " 01/01/1997 - "Multicenter crossover comparison of the safety and efficacy of Intraglobin-F with Gamimune-N, Sandoglobulin, and Gammagard in patients with primary immunodeficiency diseases."
3.	Immunoglobulin G (IgG)IBA 09/01/2011 - "Safety and efficacy of home-based subcutaneous immunoglobulin G in elderly patients with primary immunodeficiency diseases." 04/01/1984 - "Safety and efficacy of a monomeric, functionally intact intravenous IgG preparation in patients with primary immunodeficiency syndromes." 01/01/2008 - "The aims of the present study were to evaluate the health-related quality of life (HRQL) and treatment satisfaction (TS) of adults and children with primary antibody deficiencies (PAD) before and after the introduction of subcutaneous immunoglobulin G (SCIG) self-infusions at home and to identify prognostic factors (demographic/social, medical, patient/parent reported) for HRQL. " 01/01/2023 - "Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home." 03/01/2022 - "Pharmacokinetic modeling and simulation of subcutaneous and intravenous IgG dosing in patients with primary immunodeficiency diseases."
4.	VaccinesIBA 06/01/2010 - "[Review of the studies on primary immunodeficiency disorder and vaccine-derived poliovirus]." 09/09/2022 - "Detection of a Highly Divergent Type 3 Vaccine-Derived Poliovirus in a Child with a Severe Primary Immunodeficiency Disorder - Chongqing, China, 2022." 01/01/2021 - "The Molecular Evolution of Type 2 Vaccine-Derived Polioviruses in Individuals with Primary Immunodeficiency Diseases." 01/01/2020 - "Vaccines in Patients with Primary Immune Deficiency." 01/01/2019 - "The emergence of immunodeficiency-associated vaccine-derived polioviruses (iVDPV) from children with primary immunodeficiency disorders poses a threat to the eradication program. "
5.	fludarabineIBA 01/01/2021 - "Our experience suggests that a reduced toxicity busulfan-fludarabine regimen offers low toxicity, low incidence of grades 2-4 GVHD, durable myeloid engraftment, and excellent survival, and may be considered for a variety of primary immune deficiencies where myeloablative HCT is desired." 01/01/2021 - "We adapted a busulfan and fludarabine regimen by Gungor et al. for children and young adults undergoing allogeneic HCT for non-CGD primary immune deficiencies requiring myeloablation or high donor myeloid chimerism, and herein report our experience. " 10/01/2016 - "Effect of stem cell source on long-term chimerism and event-free survival in children with primary immunodeficiency disorders after fludarabine and melphalan conditioning regimen." 04/21/2011 - "Long-term follow-up is required, but in combination with fludarabine, treosulfan is a good choice of conditioning for hematopoietic stem cell transplantation in primary immunodeficiency disease." 05/01/2007 - "Topics under review include: (a) CHL posttransplant lymphoproliferative disorders, (b) CHL in HIV/AIDS, (c) Hodgkin variant of Richter syndrome in chronic lymphocytic leukemia in association with fludarabine therapy, (d) CHL in other immunodeficiency states including methotrexate-associated lymphoproliferative disorder in patients with rheumatoid arthritis and primary immune deficiencies, and (e) Hodgkin-like lymphoid proliferations including senile Epstein-Barr virus+ B-cell lymphoproliferative disorder. "
6.	Melphalan (Alkeran)FDA LinkGeneric 10/01/2016 - "Effect of stem cell source on long-term chimerism and event-free survival in children with primary immunodeficiency disorders after fludarabine and melphalan conditioning regimen." 04/21/2011 - "Children with primary immunodeficiency diseases, particularly those less than 1 year of age, experience significant toxicity after hematopoietic stem cell transplantation, with busulfan- or melphalan-based conditioning. " 01/01/2018 - "We conclude that a CD34+ selected stem cell boost can be considered for treatment of mixed chimerism after alemtuzumab, fludarabine, and melphalan RIC HSCT in children and young adults with primary immune deficiencies. " 01/01/2018 - "We investigated the usefulness of a CD34+ selected stem cell "boost" without conditioning to treat mixed chimerism in children and young adults who received predominantly an alemtuzumab, fludarabine, and melphalan RIC regimen for primary immune deficiencies and reported the outcomes. " 01/01/2021 - "The purpose of our study was to compare the safety and efficacy of hematopoietic cell transplantation (HCT) using fludarabine (Flu)-based reduced intensity conditioning (RIC) with busulfan (BU) or melphalan (Mel) for primary immunodeficiency diseases (PID). "
7.	SolutionsIBA 11/01/2021 - "The safety and efficacy of subcutaneous immune globulin 20% (human) solution (Cuvitru; Ig20Gly) for primary immunodeficiency disease (PID) have been demonstrated in 2 pivotal trials. " 12/01/2023 - "The CORE study aimed to provide a detailed understanding of real-world immune globulin subcutaneous (human) 20% solution (Ig20Gly) utilization in patients with primary immunodeficiency diseases (PIDs) in Germany and Switzerland. " 11/01/2021 - "Population pharmacokinetic simulation of varied Immune Globulin Subcutaneous (Human), 20% solution (Ig20Gly) loading and maintenance dosing regimens in immunoglobulin-naïve patients with primary immunodeficiency diseases."
8.	Hormones (Hormone)IBA 09/01/2007 - "In 1974, we received the first IND for a thymic hormone preparation from the FDA to begin a phase-I study with TF5 in children with primary immunodeficiency diseases at the University of California Medical Center in San Francisco. " 01/01/1987 - "Elucidation of the mechanism by which FTS is inhibited would be helpful in understanding the immunological defect in histiocytosis-X. The presence of evidence of thymic dysfunction and the fact that patients respond to thymic hormone therapy suggest that histiocytosis-X could be due to a primary immunodeficiency syndrome. " 01/01/1999 - "We studied gastric hormones (gastrin, somatostatin and gastrin-releasing peptide, GRP) in 47 patients (23 children and 24 adults) with primary antibody deficiency. " 01/01/1999 - "PATIENTS AND METHODS: we studied gastric hormones (gastrin, somatostatin and gastrin-releasing peptide, GRP) in 47 patients (23 children and 24 adults) with primary antibody deficiency. "
9.	Busulfan (Busulfex)FDA Link 01/01/2018 - "Population Pharmacokinetics of Intravenous Busulfan in Japanese Pediatric Patients With Primary Immunodeficiency Diseases." 01/01/2021 - "Our experience suggests that a reduced toxicity busulfan-fludarabine regimen offers low toxicity, low incidence of grades 2-4 GVHD, durable myeloid engraftment, and excellent survival, and may be considered for a variety of primary immune deficiencies where myeloablative HCT is desired." 01/01/2021 - "We adapted a busulfan and fludarabine regimen by Gungor et al. for children and young adults undergoing allogeneic HCT for non-CGD primary immune deficiencies requiring myeloablation or high donor myeloid chimerism, and herein report our experience. " 04/21/2011 - "Children with primary immunodeficiency diseases, particularly those less than 1 year of age, experience significant toxicity after hematopoietic stem cell transplantation, with busulfan- or melphalan-based conditioning. " 01/01/2021 - "The purpose of our study was to compare the safety and efficacy of hematopoietic cell transplantation (HCT) using fludarabine (Flu)-based reduced intensity conditioning (RIC) with busulfan (BU) or melphalan (Mel) for primary immunodeficiency diseases (PID). "
10.	CaprylatesIBA 09/01/2003 - "Comparison of the efficacy of IGIV-C, 10% (caprylate/chromatography) and IGIV-SD, 10% as replacement therapy in primary immune deficiency. " 01/01/2016 - "This phase 4, multicenter, open-labeled, single-sequence, crossover study in pediatric patients (ages 2 to 16) with primary immunodeficiency disease (PID) evaluated the pharmacokinetics, safety, and tolerability for subcutaneously (SC) administered 10 % caprylate/chromatography purified human immune globulin injection (IGIV-C, GAMUNEX®) compared with intravenously (IV) administered IGIV-C. " 01/01/2016 - "Pharmacokinetics, Safety, and Tolerability of Subcutaneous Immune Globulin Injection (Human), 10 % Caprylate/Chromatography Purified (GAMUNEX®-C) in Pediatric Patients with Primary Immunodeficiency Disease." 09/01/2010 - "Pharmacokinetics and safety of subcutaneous immune globulin (human), 10% caprylate/chromatography purified in patients with primary immunodeficiency disease." 09/01/2010 - "An open-label, pharmacokinetic trial (n = 32) determined the non-inferiority of the subcutaneous versus intravenous route of 10% caprylate/chromatography purified human immune globulin intravenous (IGIV-C; Gamunex®) administration by comparing the steady-state area under the concentration-versus-time curve (AUC) of total plasma IgG in patients with primary immunodeficiency disease. "

Therapies and Procedures

1.	Therapeutics 01/01/2020 - "One-by-one, gene therapy for primary immune deficiencies is being brought to the clinic and hopefully will provide safe and effective therapies." 01/01/2016 - "The objective of this study was to evaluate the efficacy, safety, and pharmacokinetics of Flebogamma® 5 % DIF for replacement therapy in children (age 2-16) with primary immunodeficiency diseases (PIDD). " 02/01/2014 - "Future goals include the conduct of prospective treatment studies to determine optimal therapies for primary immunodeficiency diseases. " 02/01/2013 - "This review describes progress in the study of rare variants and primary immunodeficiency diseases arising from whole-exome sequencing (WES), and discusses the application, success, and challenges of applying genome-wide association studies (GWAS) to disorders of immune function and how they may inform more rational use of therapeutics. " 09/06/2022 - "[Progress on the diagnosis and therapy about atopic diseases and primary immunodeficiency diseases]."
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/01/2020 - "Prospective Study of a Novel, Radiation-Free, Reduced-Intensity Bone Marrow Transplantation Platform for Primary Immunodeficiency Diseases." 01/01/2018 - "Bone Marrow Transplantation for Primary Immune Deficiency Disorders in India: Past, Present and Future." 05/01/2015 - "LADIII is a primary immune deficiency, which can be successfully corrected by bone marrow transplantation if applied early in the course of the disease using appropriate conditioning." 05/01/2013 - "VODI is a primary immune deficiency, which can be successfully corrected by bone marrow transplantation if applied early in the course of disease using appropriate conditioning." 02/01/2011 - "Haploidentical bone marrow transplantation in primary immune deficiency: stem cell selection and manipulation."
3.	Cell Transplantation 10/02/2023 - "The Primary Immune Deficiency Treatment Consortium (PIDTC) enrolled children in the United States and Canada onto a retrospective multicenter natural history study of hematopoietic cell transplantation (HCT). " 01/01/2019 - "Psychosocial services for primary immunodeficiency disorder families during hematopoietic cell transplantation: A descriptive study." 01/01/2020 - "Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey." 01/01/2019 - "Caregivers of children with primary immunodeficiency disorders (PIDs) experience significant psychological distress during their child's hematopoietic cell transplantation (HCT) process. " 01/01/2019 - "Supporting caregivers during hematopoietic cell transplantation for children with primary immunodeficiency disorders."
4.	Transplantation 10/01/2016 - "Reduced-intensity conditioning (RIC) regimens are increasingly being used in the transplantation of patients with primary immunodeficiency disorders (PIDs), but there are no large studies looking at long-term lineage-specific chimerism. " 06/22/2011 - "Studies so far indicate that reduced intensity transplantation (RIT) may have an important role in treating patients with primary immunodeficiency disease (PID). " 08/01/2023 - "Twenty-one patients underwent transplantation for primary immunodeficiency disorders. " 12/01/2021 - "Co-transplantation of mesenchymal stromal cell and haploidentical hematopoietic stem cell with TCR αβ depletion in children with primary immunodeficiency syndromes." 07/01/2015 - "Hematopoietic Stem Cell Transplantations for Primary Immune Deficiencies: 3 Decades of Experience From a Tertiary Medical Center."
5.	Stem Cell Transplantation 08/01/2002 - "Until further improvement in gene therapy is achieved, stem-cell transplantation is still the main option for cure of patients with primary immunodeficiency diseases. " 03/01/2005 - "The congenital immunodeficiency disorders in which the defect has been clearly traced to the stem cell can be cured with allogeneic stem-cell transplantation (SCT) from an unaffected donor. " 04/01/2022 - "For many patients with primary immune deficiency (PID), stem-cell transplantation (SCT) may be life-saving. " 04/01/2022 - "Stem-cell transplantation for children with primary immune deficiencies: A retrospective study of 19 patients from one centre in Mexico." 10/01/2017 - "Haematopoietic stem cell transplantation for primary immunodeficiency syndromes: A 5-year single-centre experience."