Primary Immunodeficiency Disease Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Immune Globulin Subcutaneous 16.5% in Treatment of Primary Immunodeficiency: A Two-Year, Multi-Center Analysis
Immune Globulin Subcutaneous (Human) 16.5% (IGSC 16.5%) is approved for the treatment of primary immunodeficiency diseases (PID) in adults and pediatric patients ≥2 years but long term data is lacking. We evaluated efficacy and safety of IGSC 16.5% in patients over a 2-year time period. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - February 1, 2024 Category: Allergy & Immunology Authors: Richard Herrscher, Jeffrey Langford, Precious Anyanwu, Lucinda VanAnglen Source Type: research

HLA-Haploidentical Transplantation in Children with Primary Immunodeficiency Using Reduced Dose Post Cyclophosphamide
Haploidentical donor can be considered as an alternative source of stem cells for primary immune deficiencies (PIDs) who does not have a full matched donor. Due to toxicity of Post Cy, the dose is reduced from 50mg/kg on day 3 and 5 to 25mg/kg.METHODS: Fifteen (15) pediatric (age at transplant (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - February 1, 2024 Category: Hematology Authors: Hawazen Saleh Alsaedi Tags: 182 Source Type: research

Differing Gene Expression Profiles and Signaling Pathways between Circulating Donor and Host-Derived Monocytes during Tolerance in Mixed Chimerism Following Unrelated Donor Cadaveric BMT and Lung Transplant
We reported previously that a 14-year-old female (IL7R − SCID) underwent BMT 4-month after BOLT from a 1/8 HLA-allele matched donor. (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - February 1, 2024 Category: Hematology Authors: Paul Szabolcs, Xiaohua Chen, Evelyn Garchar, Dhivyaa Rajasundaram Tags: 427 Source Type: research

Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype
Germline heterozygous gain-of-function (GOF) mutations in the PIK3CD gene lead to a rare primary immunodeficiency disease known as activated phosphoinositide 3-kinase (PI3K) δ syndrome type 1(APDS1). Affected pat... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 29, 2024 Category: Rheumatology Authors: Peiwei Zhao, Juan Huang, Huicong Fu, Jiali Xu, Tianhong Li, Xiankai Zhang, Qingjie Meng, Lei Zhang, Li Tan, Wen Zhang, Hebin Chen, Xiaoxia Lu, Yan Ding and Xuelian He Tags: Research article Source Type: research

Systematic review of mortality and survival rates for APDS
AbstractActivated phosphoinositide 3-kinase delta syndrome (APDS) is a rare genetic disorder that presents clinically as a primary immunodeficiency. Clinical presentation of APDS includes severe, recurrent infections, lymphoproliferation, lymphoma, and other cancers, autoimmunity and enteropathy. Autosomal dominant variants in two independent genes have been demonstrated to cause APDS. Pathogenic variants inPIK3CD andPIK3R1, both of which encode components of the PI3-kinase, have been identified in subjects with APDS. APDS1 is caused by gain of function variants in the PIK3CD gene, while loss of function variants inPIK3...
Source: Clinical and Experimental Medicine - January 27, 2024 Category: Research Source Type: research

Coronavirus Disease-2019 in the Immunocompromised Host
Immunocompromised hosts, which encompass a diverse population of persons with malignancies, human immunodeficiency virus disease, solid organ, and hematologic transplants, autoimmune diseases, and primary immunodeficiencies, bear a significant burden of the morbidity and mortality due to coronavirus disease-2019 (COVID-19). Immunocompromised patients who develop COVID-19 have a more severe illness, higher hospitalization rates, and higher mortality rates than immunocompetent patients. There are no well-defined treatment strategies that are specific to immunocompromised patients and vaccines, monoclonal antibodies, and conv...
Source: Infectious Diseases Clinics of North America - January 26, 2024 Category: Infectious Diseases Authors: Christopher D. Bertini, Fareed Khawaja, Ajay Sheshadri Source Type: research

Consanguineous marriages increase the incidence of recurrent tuberculosis: Evidence from whole exome sequencing
CONCLUSION: Our findings indicate the significant contribution of the IL-12/IFN-γ is in combating infections due to mycobacterium. Among Pakistani patients born to consanguineous marriages, the identified mutations in the IL-12Rβ-1 gene provide insights into the genetic basis of severe BCG infections and recurrent tuberculosis. The study highlights the potential utility of newborn screening in regions with mandatory BCG vaccination, enabling early detection and intervention for primary immunodeficiencies associated with mycobacterial infections. Moreover, the study suggests at the potential role of other related genes su...
Source: Infection, Genetics and Evolution - January 24, 2024 Category: Genetics & Stem Cells Authors: Noor Ul Akbar Sajjad Ahmad Taj Ali Khan Muhammad Tayyeb Naheed Akhter Laraib Shafiq Shahid Niaz Khan Mohammad Mahtab Alam Alduwish Manal Abdullah Muhammad Fayyaz Ur Rehman Majed A Bajaber Muhammad Safwan Akram Source Type: research

Expression of IL-17RA in Innate Cells of Patients with Common Variable Immunodeficiency (CVID) and its Clinical Implications
Conclusions. The study suggests that despite previous reports of reduced circulating Th17 cells and IL-17 levels in CVID patients, IL-17RA expression in innate cells may be elevated, potentially indicating altered IL-17 signaling. This heightened IL-17RA expression could contribute to a persistent pro-inflammatory state, possibly due to microbial translocation or other inflammatory factors. The association of IL-17RA expression with gastrointestinal microbial colonization and its correlation with fecal calprotectin underscores the complexity of IL-17RA's role in CVID pathophysiology. Further research in larger cohorts coul...
Source: European Annals of Allergy and Clinical Immunology - January 23, 2024 Category: Allergy & Immunology Authors: P Botelho Alves H Pires Pereira J Costa Carvalho I Nunes A Todo-Bom E Faria F Regateiro A Paiva Source Type: research

Validating Inborn Error of Immunity Prevalence and Risk with Nationally-Representative EHR Data
Capsule Summary: The 10 Warning Signs for Primary Immunodeficiency are effective in discriminating persons with IEI from those without when applied to real-world health record data. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - January 23, 2024 Category: Allergy & Immunology Authors: Nicholas L. Rider, Ahuva Truxton, Tracy Ohrt, Irene Margolin-Katz, Mary Horan, Harold Shin, Roger Davila, Vanessa Tenembaum, Jessica Quinn, Vicki Modell, Fred Modell, Jordan S. Orange, Almut Branner, Cynthia Senerchia Source Type: research

Validating inborn error of immunity prevalence and risk with nationally representative electronic health record data
The 10 Warning Signs of Primary Immunodeficiency were created 30 years ago to advance recognition of inborn errors of immunity (IEI). However, no population-level assessment of their utility applied to electronic health record (EHR) data has been conducted. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - January 23, 2024 Category: Allergy & Immunology Authors: Nicholas L. Rider, Ahuva Truxton, Tracy Ohrt, Irene Margolin-Katz, Mary Horan, Harold Shin, Roger Davila, Vanessa Tenembaum, Jessica Quinn, Vicki Modell, Fred Modell, Jordan S. Orange, Almut Branner, Cynthia Senerchia Source Type: research

The Inborn Errors of Immunity —Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase
ConclusionFrom our preliminary study, the VCS represents an innovative and useful system to improve the diagnostic process of patients with complex unsolved IEI disorders, with benefits both in terms of reduction of time of diagnosis and access to the required therapies. These results may help the functioning of other international platforms for the management of complex cases. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 17, 2024 Category: Allergy & Immunology Source Type: research

Spectrum of Primary Immunodeficiency Disorders in Hospitalized Children: Multicentric Data From Kolkata
CONCLUSION: Our study presents the first cohort of PID from eastern India. A methodical step-wise clinical and diagnostic approach can facilitate early diagnosis and timely therapeutic interventions.PMID:38217268 (Source: Indian Pediatrics)
Source: Indian Pediatrics - January 13, 2024 Category: Pediatrics Authors: Tapas Kumar Sabui Mrinal Kanti Manna Mitali Chatterjee Aniruddha Bagchi Asmita Ghosh Sandipan Sen Pranab Kumar Dey Moumita Samanta Source Type: research

Knowledge, awareness, and perception on genetic testing for primary immunodeficiency disease among parents in Malaysia: a qualitative study
ConclusionIn conclusion, this study highlights the diverse knowledge, awareness, and perception surrounding genetic testing for PID. Factors such as access to services, family history, and personal circumstances shape individuals’ understanding of genetic testing. The importance of healthcare professionals, along with the need for improved accessibility and targeted communication strategies, is underscored to enhance understanding and reduce stigma surrounding genetic testing for rare diseases like PID. (Source: Frontiers in Immunology)
Source: Frontiers in Immunology - January 12, 2024 Category: Allergy & Immunology Source Type: research

Inborn errors of immunity with kidney and urinary tract disorders: a review
AbstractHuman inborn errors of immunity (IEIs), previously referred to as primary immunodeficiency disorders (PIDs), are a heterogeneous spectrum of inherited abnormalities of the immune system with different organ involvement. The number of identified IEIs is rapidly increasing, highlighting the non-negligible role of an interdisciplinary approach in clinical diagnosis. Kidney disorders are one of the important comorbidities in some of the affected patients and play a significant role in the diagnosis and course of disease. According to recent studies, 22 types of human IEI with renal manifestations have been identified s...
Source: International Urology and Nephrology - January 10, 2024 Category: Urology & Nephrology Source Type: research

Neurological involvement in patients with primary immunodeficiency
CONCLUSION: In this study, we describe the various neurologic findings of patients with PID. The neurologic presentation may represent the initial manifestation of certain types of PID. Early diagnosis and treatment are essential to prevent or reduce further neurologic damages.PMID:38186198 | DOI:10.15586/aei.v52i1.961 (Source: Allergologia et Immunopathologia)
Source: Allergologia et Immunopathologia - January 8, 2024 Category: Allergy & Immunology Authors: Hulya Kose Zuhal Karali Muhittin Bodur Sukru Cekic Sara Sebnem Kilic Source Type: research