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.

Extensive and deep granulomatous ulcers as an atypical manifestation of cartilage-hair hypoplasia syndrome: A diagnostic and therapeutic challenge
We present a case of a middle-aged man with cartilage hypoplasia syndrome featuring cutaneous granulomas, manifesting as chronic, extensive and deep cutaneous ulcers. The patient was treated with anti-TNF-alpha adalimumab with partial improvement. Our case underscores the broad spectrum of clinical manifestations associated with cartilage hypoplasia syndrome and adds new evidence to the potential therapeutic efficacy of anti-TNF-alpha drugs in its treatment.PMID:38544290 | DOI:10.1111/ajd.14258 (Source: The Australasian Journal of Dermatology)
Source: The Australasian Journal of Dermatology - March 28, 2024 Category: Dermatology Authors: Eduardo Rozas-Mu ñoz Rodrigo Blamey-Diaz Ana Maria Gallardo-Olivos Javiera Jerez Juan-Andres Madariaga Source Type: research

The lack of either IRF9, or STAT2, has surprisingly little effect on human natural killer cell development and function
Immunology. 2024 Mar 21. doi: 10.1111/imm.13779. Online ahead of print.ABSTRACTAnalysis of genetically defined immunodeficient patients allows study of the effect of the absence of specific proteins on human immune function in real-world conditions. Here we have addressed the importance of type I interferon signalling for human NK cell development by studying the phenotype and function of circulating NK cells isolated from patients suffering primary immunodeficiency disease due to mutation of either the human interferon regulatory factor 9 (IRF9) or the signal transducer and activator of transcription 2 (STAT2) genes. IRF9...
Source: Immunology - March 22, 2024 Category: Allergy & Immunology Authors: Ane Calvo-Apalategi Marta L ópez Nevado Luz Yadira Bravo-Gallego Luis Ignacio Gonz ález-Granado Luis M Allende Rebeca Rodr íguez Pena Eduardo L ópez-Granados Hugh T Reyburn Source Type: research

A Case of Female X-linked Chronic Granulomatous Disease Caused by X Chromosome Inactivation Treated with Hematopoietic Stem Cell Transplantation and Literature Review
CONCLUSION: The findings of this study highlight the importance of considering X-CGD in the diagnosis of children and women presenting with granulomatous disease. Furthermore, the use of hematopoietic stem cell transplantation was shown to achieve significant therapeutic effects in the treatment of X-CGD. Further research is warranted to explore early diagnostic strategies for X-CGD and to optimize the use of hematopoietic stem cell transplantation in managing the disease. Early diagnosis and intervention can lead to improved outcomes for patients with X-CGD. This study contributes to the understanding of X-CGD and its tre...
Source: Alternative Therapies in Health and Medicine - March 22, 2024 Category: Complementary Medicine Authors: Wei Lu Xiaoqin Xi Yuanfang Jing Yingjian Si Zhenlan Du Ya Wang Wei Chen Xiangfeng Tang Source Type: research

Increased mortality in infants with abnormal T-cell receptor excision circles
CONCLUSION: Infants with abnormal TREC-NBS may be at a higher risk of morbidity and mortality and should be carefully followed, especially if discharged home before a repeat screen can be completed.IMPACT: This study explores the risk factors and mortality for newborns with secondary T-cell lymphopenia captured on T-Cell Receptor Excision Circles based newborn screening (TREC-NBS). Abnormal TREC-NBS allows for prompt life-saving interventions for primary immunological conditions such as Severe Combined Immunodeficiency (SCID), but can also be associated with non-immunologic conditions. Unresolved and late abnormal TREC-NBS...
Source: Cell Research - March 5, 2024 Category: Cytology Authors: Jenny Huang Ashwin Shankar Isabel Hurden Ronald Thomas Joseph Hill Divya Seth Elizabeth Secord Pavadee Poowuttikul Source Type: research

Increased mortality in infants with abnormal T-cell receptor excision circles
CONCLUSION: Infants with abnormal TREC-NBS may be at a higher risk of morbidity and mortality and should be carefully followed, especially if discharged home before a repeat screen can be completed.IMPACT: This study explores the risk factors and mortality for newborns with secondary T-cell lymphopenia captured on T-Cell Receptor Excision Circles based newborn screening (TREC-NBS). Abnormal TREC-NBS allows for prompt life-saving interventions for primary immunological conditions such as Severe Combined Immunodeficiency (SCID), but can also be associated with non-immunologic conditions. Unresolved and late abnormal TREC-NBS...
Source: Pediatric Research - March 5, 2024 Category: Pediatrics Authors: Jenny Huang Ashwin Shankar Isabel Hurden Ronald Thomas Joseph Hill Divya Seth Elizabeth Secord Pavadee Poowuttikul Source Type: research

Genes, Vol. 15, Pages 314: Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years
We describe our experience of optional NBS for severe PID and SMA in Osaka, Japan. A multiplex TaqMan qPCR assay was used for the optional NBS program. The assay was able to quantify the levels of T-cell receptor excision circles and kappa-deleting recombination excision circles, which is useful for severe combined immunodeficiency and B-cell deficiency screening, and can simultaneously detect the homozygous deletion of SMN1 exon 7, which is useful for NBS for SMA. In total, 105,419 newborns were eligible for the optional NBS program between 1 August 2020 and 31 August 2023. A case each of X-linked agammaglobulinemia and S...
Source: Genes - February 28, 2024 Category: Genetics & Stem Cells Authors: Tomokazu Kimizu Masatoshi Nozaki Yousuke Okada Akihisa Sawada Misaki Morisaki Hiroshi Fujita Akemi Irie Keiko Matsuda Yuiko Hasegawa Eriko Nishi Nobuhiko Okamoto Masanobu Kawai Kohsuke Imai Yasuhiro Suzuki Kazuko Wada Nobuaki Mitsuda Shinobu Ida Tags: Article Source Type: research

Psychosocial Evaluation of Adults with Primary Immunodeficiency
ConclusionAdults with PID are at risk for depression and experience high levels of loneliness. Social maladjustment and loneliness contribute to anxiety and depression, and loneliness is correlated with impaired social functioning. These findings emphasize the importance of biopsychosocial evaluation of individuals diagnosed with PID. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 27, 2024 Category: Allergy & Immunology Source Type: research