Tandem Lung-Bone Marrow Transplant Shows Promise

(MedPage Today) -- Protocol being used in patients with primary immunodeficiencies
Source: MedPage Today Pulmonary - Category: Respiratory Medicine Source Type: news

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In this study, whole-exome sequencing was used to detect mutation in the case suspected of having primary immunodeficiency. We found a homozygous mutation in PNP gene in a girl who is the third case from the national Iranian registry. She had combined immunodeficiency, autoimmune hemolytic anemia and a history of recurrent infections. She developed no neurological dysfunction. She died at the age of 11 after a severe chicken pox infection. PNP deficiency should be considered in late-onset children with recurrent infections, autoimmune disorders without typical neurologic impairment. PMID: 30885031 [PubMed - as supplied by publisher]
Source: Immunological Investigations - Category: Allergy & Immunology Tags: Immunol Invest Source Type: research
Publication date: Available online 12 March 2019Source: International Journal of Pediatrics and Adolescent MedicineAuthor(s): Yousef Almana, Reem MohammedAbstractInflammatory bowel disease (IBD) is a heterogeneous group of disorders composed mainly of ulcerative colitis (UC) and Crohn's disease (CD) and undetermined IBD. The peak incidence of occurrence is mainly beyond the pediatric age group. Recent knowledge about genetic factors had been strongly linked to pediatric IBD (PIBD). Recent advances in genomic technologies have prompted the identification of genetic defects underlying rare, very early-onset IBD (VEO-IBD) as ...
Source: International Journal of Pediatrics and Adolescent Medicine - Category: Pediatrics Source Type: research
Christian Klemann, Nadezhda Camacho-Ordonez, Linlin Yang, Zoya Eskandarian, Jessica L. Rojas-Restrepo, Natalie Frede, Alla Bulashevska, Maximilian Heeg, Moudjahed Saleh Al-Ddafari, Julian Premm, Maximilian Seidl, Sandra Ammann, Roya Sherkat, Nita Radhakrishnan, Klaus Warnatz, Susanne Unger, Robin Kobbe, Anja H üfner, T. Ronan Leahy, Winnie Ip, Siobhan O. Burns, Manfred Fliegauf, Bodo Grimbacher
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
ConclusionsThe authors highlight the importance of detailed immunological investigations in an infant with severe infections and lymphopenia before labeling the infant as SCID.
Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research
Publication date: Available online 12 March 2019Source: International Journal of Pediatrics and Adolescent MedicineAuthor(s): Yousef Almana, Reem MohammedAbstractInflammatory bowel disease (IBD) is a heterogeneous group of disorders composed mainly of Ulcerative Colitis (UC) and Crohn’s disease (CD) and Undetermined IBD. The peak incidence of occurrence is mainly beyond the pediatric age group. Recent knowledge about genetic factors had been strongly linked to pediatric IBD (PIBD). Recent advances in genomic technologies have prompted the identification of genetic defects underlying rare, very early‐onset IBD (VEO...
Source: International Journal of Pediatrics and Adolescent Medicine - Category: Pediatrics Source Type: research
AbstractX-linked chronic granulomatous disease (XL-CGD), a rare primary immunodeficiency due to a defect in the gp91phox NADPH oxidase subunit, results in recurrent, severe infection, inflammation, and autoimmunity. Patients have an absent, or significantly reduced, neutrophil oxidative burst. Due to lyonization, XL-CGD carriers have a dual population of functional and non-functional phagocytes and experience a range of symptoms including increased risk of autoimmunity, fatigue, and infection. Patients with CGD have poorer quality of life (QoL) than normal controls. We evaluated QoL and psychological health in UK XL-CGD ca...
Source: Journal of Clinical Immunology - Category: Allergy & Immunology Source Type: research
Allogenic hematopoietic stem cell transplantation (HSCT) is a treatment option for children with various malignant or non-malignant diseases, including selected primary immunodeficiencies (PIDs) and inherited disorders. A graft from a healthy, HLA-genoidentical, matched sibling donor is the best option but is available in fewer than 25% of cases. Less than 70% of the remaining patients will have a suitable matched unrelated donor, a proportion that is even lower for patients belonging to ethnic groups poorly represented in donor registries [1].
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
We report the first case of hypomorphic X-SCID caused by a synonymous mutation in the IL2RG gene leading to a splice anomaly, in a family including two patients with diffuse cutaneous warts, recurrent molluscum contagiosum, and mild respiratory infections. The mutation caused aberrant splicing of IL2RG mRNA, subsequently resulted in reduced γc expression. The leaky production of normally spliced IL2RG mRNA produced undamaged protein; thus, T cells and NK cells were generated in the patients. Functional assays of the patients' T cells and NK cells revealed diminished cytokine response in the T cells and absent cytokin...
Source: International Journal of Hematology - Category: Hematology Authors: Tags: Int J Hematol Source Type: research
PMID: 30858051 [PubMed - as supplied by publisher]
Source: Clinical Immunology - Category: Allergy & Immunology Authors: Tags: Clin Immunol Source Type: research
To investigate effects and outcome of hematopoietic stem cell transplantation (HSCT) on sclerosing cholangitis, in pediatric patients with different primary immunodeficiencies (PIDs).
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Original Articles Source Type: research
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