Manish Butte

Matched versus Haploidentical Hematopoietic Stem Cell Transplantation as Treatment Options for Primary Immunodeficiencies in Children.

Biol Blood Marrow Transplant. 2020 Sep 20;:

Authors: Holzer U, Döring M, Eichholz T, Ebinger M, Queudeville M, Turkiewicz D, Schwarz K, Handgretinger R, Lang P, Toporski J

Abstract
Primary immunodeficiencies (PIDs) are inherited disorders of the immune system with allogeneic hematopoietic stem cell transplantation (HSCT) as the only curative treatment in some of them. In case a HLA-matched donor is not available, HSCT from a haploidentical family donor may be considered. We compared the outcomes of HSCT from HLA-matched unrelated or related donors (MUD or MRD) and mismatched related haploidentical donors (MMRD) in patients with a variety of PIDs in two centers. A total of 44 pediatric patients were evaluated. We reviewed the outcomes of 25 children transplanted with HLA-matched grafts (n=13 MRD; n=12 MUD) and 19 patients receiving haploidentical stem cells. Bone marrow (BM) was transplanted in 85% (MRD) and 75% (MUD) of the matched cohort and peripheral blood stem cells (PBSC) in 15% (MRD), 25% (MUD) and 100% of the MMRD group. All but 9 patients (n=6 MRD; n=3 MMRD) with severe combined immunodeficiency (SCID) received a chemotherapy based conditioning regimen. Immune reconstitution of T-, B- and NK-cells was comparable for all groups with an advantage of recipients of MRD grafts in early CD4 reconstitution. However, deaths due to viral infections occurred more often in the haploidentical cohort. The disease free survival was 91.7% (MRD), 66.7% (MUD) and 62.7% (MMRD), respectively. Acute GvHD II-IV occurred in 15% (MRD), 8% (MUD) and 21% (MMRD) of the patients. Though, only one patient suffered of severe GvHD IV in the MRD group, whereas no GVHD >II was observed in the MUD or MMRD cohort. These data indicate that in the absence of a suitable HLA-identical family donor haploidentical HSCT may be a viable option for patients with life-threatening disease and urgent need of HSCT.

PMID: 32966882 [PubMed – as supplied by publisher]

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Cardiometabolic Traits, Sepsis and Severe COVID-19: A Mendelian Randomization Investigation.

Circulation. 2020 Sep 23;:

Authors: Ponsford MJ, Gkatzionis A, Walker VM, Grant AJ, Wootton RE, Moore LSP, Fatumo S, Mason AM, Zuber V, Willer C, Rasheed H, Brumpton B, Hveem K, Damås JK, Davies N, Åsvold BO, Solligård E, Jones S, Burgess S, Rogne T, Gill D

PMID: 32966752 [PubMed – as supplied by publisher]

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Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees.

Br J Haematol. 2020 Sep 23;:

Authors: Sprenkeler EGG, Tool ATJ, Kreft IC, van Alphen FPJ, NBR-RD PID Consortium, NIHR BioResource, Seneviratne SL, Maimaris J, Luqmani A, van Leeuwen K, van Bruggen R, Burns SO, Kuijpers TW

PMID: 32966608 [PubMed – as supplied by publisher]

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Care demands experienced by family caregivers of children with Primary Immunodeficiency.

Rev Bras Enferm. 2020;73(suppl 4):e20180795

Authors: West MGLN, Vasconcelos MGL, Coriolano-Marinus MWL, Araújo EC

Abstract
OBJECTIVE: to understand the experiences of family caregivers of children with Primary Immunodeficiency in view of care demands.
METHODS: a qualitative research. Data collection was subsidized by an open interview with five family caregivers, and the data were analyzed using the Bardin Content Analysis technique, thematic modality. The Callista Roy’s Adaptation Model of Nursing was used to interpret the data.
RESULTS: from participants’ reports, the following categories emerged: Maternity: facing adversity; Remodeling of daily life; The Social Support Network resource.
FINAL CONSIDERATIONS: family caregivers experience several feelings such as anguish and low self-esteem due to the fear of losing their child and the routine of illnesses and hospitalizations, in addition to needs that are often not reached due to incompatibility with the family budget. The Social Support Network is strengthened for most caregivers, playing an essential role as a coping strategy for caregivers.

PMID: 32965405 [PubMed – as supplied by publisher]

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[; CLINICAL CASE OF STAT3 GOF IMMUNE DYSREGULATION DISEASE, ALPS].

Georgian Med News. 2020 Jul-Aug;(304-305):100-103

Authors: Ussenova O, Morenko M, Kovzel E, Schnaider K, Vlashenyuk K

Abstract
Dysregulation of the immune system occurs when the immune system cannot regulate normal control of inflammation, which leads to the most common severe inflammatory infections. Some of the manifestations of diseases of immune dysregulation are called diseases of increased function of STAT1 (GOF) and enhanced function of STAT3 (GOF). STAT stands for a kind of signal converter and transcription activator. To date, six STAT proteins have been identified. The following clinical case is interesting and relevant in that, despite an increase in the number of patients diagnosed with primary immunodeficiencies, it should be noted that this pathology is underdiagnosed, since in this case, before making the diagnosis, the child was hospitalized more than 20 times in various hospitals for more than 20 times. The patient was diagnosed with primary immunodeficiency, immune dysregulation diseases, STAT3 GOF, autoimmune lymphoproliferative syndrome.

PMID: 32965258 [PubMed – as supplied by publisher]

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Chalazia, A Late Manifestation of Primary Immunodeficiency Disorders.

Ocul Immunol Inflamm. 2020 Sep 23;:1

Authors: Bargir UA, Madkaikar M

Abstract
PURPOSE: To call attention to the central clues for primary immunodeficiency in the cases reported by María Nieves-Moreno et. al where chalazia in the reported cases is undoubtedly an important clue but is a late clinical manifestation.

PMID: 32965149 [PubMed – as supplied by publisher]

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B-lymphocyte deficiency and recurrent respiratory infections in a 6-month-old female infant with mosaic monosomy 7.

Immunobiology. 2020 Sep;225(5):152005

Authors: Mai K, Chen X, Wang C, Wu S, Yang L, Huang Z, Zhang G, Zhang VW, Wang J, Chen D

Abstract
Monosomy 7 is generally considered as an acquired cytogenetic abnormality within hematopoietic cells, and indicates an especially high risk of progression to bone marrow failure, myelodysplastic syndrome (MDS) or juvenile myelomonocytic leukemia (JMML). We report a case of a 6-month-old female infant with mosaic monosomy 7 who presented with clinical and laboratory evidences of immunodeficiency. The patient had suffered from recurrent respiratory infections since she was born. Peripheral blood lymphocyte subsets revealed an extremely low level of CD19+ B lymphocytes (0.3∼0.8%, normal range: 6.4∼22.6%) and a decreased CD4/CD8 ratio (0.67∼1.12, normal range: 1.4∼2.0). Decreased serum levels of IgG (1.53 g/L, normal range: 4.09∼7.03 g/L), IgA (0.10 g/L, normal range: 0.21∼0.47 g/L) and IgM (0.26 g/L, normal range: 0.33∼0.73 g/L) were detected, while complements were normal. Excepting transient neutropenia, routine blood tests were within normal limits. Clinical exome sequencing identified a de novo mosaic monosomy 7, while no pathogenic mutation associated with immunodeficiency was detected. However, peripheral blood cytogenetic analysis was failure to detect monosomy 7 due to the very few cell mitosis. Subsequent fluorescence in situ hybridization (FISH) identified a mosaic monosomy 7 in 58 cells within a total number of 100 cells, which was consistent with clinical exome sequencing. Therefore, the patient was diagnosed with primary immunodeficiency disease (PID) due to mosaic monosomy 7. Intravenous treatment with multiple antibiotic agents and infusion of gamma globulin could control the patient’s respiratory infections effectively. A better understanding of PIDs will enable effective treatments and prevention of infections in these patients.

PMID: 32962823 [PubMed – as supplied by publisher]

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