Manish Butte

Parent Experiences with Paediatric Allergy Pathways in the West Midlands: A Qualitative study.

Clin Exp Allergy. 2019 Jan 04;:

Authors: Diwakar L, Cummins C, Hackett S, Rees M, Charles L, Kerrigan C, Creed H, Roberts T

Abstract
BACKGROUND: The prevalence, severity and complexity of allergic diseases has been increasing steadily in the UK over the last few decades. Primary care physicians are often not adequately trained in allergy management whilst specialist services for allergy are scarce and heterogeneous. Services, therefore, have been unable to meet the rising demand. This is particularly true for paediatric allergy services in the UK.
OBJECTIVE: To understand parent experiences with paediatric allergy pathways in the West Midlands (WM) region of the UK.
METHODS: Parents of children aged between 0-16 years from the WM region were recruited opportunistically until thematic saturation was achieved. 18 semi-structured interviews were carried out and transcribed verbatim. Data were analysed on NVivo software using the framework method. Themes were identified from the transcripts as well as from existing literature.
RESULTS: Parents highlighted numerous issues related to allergy services in the region including difficulties with being taken seriously by their physicians, problems with accessing healthcare and issues with information and the need for additional supportive care for allergies.
CONCLUSIONS AND CLINICAL RELEVANCE: Primary care for children with allergies in the West Midlands is disparate. Parents experience difficulties in accessing primary and secondary care services and also obtaining timely and appropriate information regarding their child’s allergies. Most parents were happy to be reviewed by either specialist nurses or by consultants in the hospital. Improving accessibility and availability of reliable information as well as provision of additional services (such as psychologists and dietetics) were highlighted by parents as being important to allergy services in the region. These findings can help inform future planning and commissioning of allergy services. This article is protected by copyright. All rights reserved.

PMID: 30609142 [PubMed – as supplied by publisher]

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Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.

J Clin Immunol. 2019 Jan 03;:

Authors: Buchbinder D, Hauck F, Albert MH, Rack A, Bakhtiar S, Shcherbina A, Deripapa E, Sullivan KE, Perelygina L, Eloit M, Neven B, Pérot P, Moshous D, Suarez F, Bodemer C, Bonilla FA, Vaz LE, Krol AL, Klein C, Seppanen M, Nugent DJ, Singh J, Ochs HD

Abstract
The association of immunodeficiency-related vaccine-derived rubella virus (iVDRV) with cutaneous and visceral granulomatous disease has been reported in patients with primary immunodeficiency disorders (PIDs). The majority of these PID patients with rubella-positive granulomas had DNA repair disorders. To support this line of inquiry, we provide additional descriptive data on seven previously reported patients with Nijmegen breakage syndrome (NBS) (n = 3) and ataxia telangiectasia (AT) (n = 4) as well as eight previously unreported patients with iVDRV-induced cutaneous granulomas and DNA repair disorders including NBS (n = 1), AT (n = 5), DNA ligase 4 deficiency (n = 1), and Artemis deficiency (n = 1). We also provide descriptive data on several previously unreported PID patients with iVDRV-induced cutaneous granulomas including cartilage hair hypoplasia (n = 1), warts, hypogammaglobulinemia, immunodeficiency, myelokathexis (WHIM) syndrome (n = 1), MHC class II deficiency (n = 1), Coronin-1A deficiency (n = 1), X-linked severe combined immunodeficiency (X-SCID) (n = 1), and combined immunodeficiency without a molecular diagnosis (n = 1). At the time of this report, the median age of the patients with skin granulomas and DNA repair disorders was 9 years (range 3-18). Cutaneous granulomas have been documented in all, while visceral granulomas were observed in six cases (40%). All patients had received rubella virus vaccine. The median duration of time elapsed from vaccination to the development of cutaneous granulomas was 48 months (range 2-152). Hematopoietic cell transplantation was reported to result in scarring resolution of cutaneous granulomas in two patients with NBS, one patient with AT, one patient with Artemis deficiency, one patient with DNA Ligase 4 deficiency, one patient with MHC class II deficiency, and one patient with combined immunodeficiency without a known molecular etiology. Of the previously reported and unreported cases, the majority share the diagnosis of a DNA repair disorder. Analysis of additional patients with this complication may clarify determinants of rubella pathogenesis, identify specific immune defects resulting in chronic infection, and may lead to defect-specific therapies.

PMID: 30607663 [PubMed – as supplied by publisher]

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[Registry of primary immunodeficiencies in children at a fourth level hospital. Bogota, 2010-2016].

Rev Alerg Mex. 2018 Oct-Dec;65(4):341-348

Authors: Pedraza Á, Vargas-Rumilla MI, Ramírez-Roa JL

Abstract
BACKGROUND: Primary immunodeficiencies are inherited diseases that compromise numerous systems and whose clinical manifestation is varied. It is an underdiagnosed pathology in Colombia.
OBJECTIVES: To characterize primary immunodeficiencies in patients younger than 16 years who attended the San Rafael Clinical University Hospital, Bogota, between January 1, 2010 and July 1, 2016, as well as to provide information that enriches local, national and international statistics.
METHODS: Observational study of a cases series. All patients diagnosed with primary immunodeficiencies were analyzed, with a total of 75 patients.
RESULTS: Patients between one and five years of age (33 % of all cases) were the most affected, followed by patients from six to 11 months, including 17 cases; 21 cases corresponded to patients under 1 year of age; 80 % of affected children were males. Antibody deficiency was the most common type of immunodeficiency (56 %), followed by T/B lymphocyte deficiency (38 %).
CONCLUSIONS: Patients with primary immunodeficiencies of the analyzed hospital had the same age and gender distribution observed in international studies. The most common primary immunodeficiency was due to antibody defects.

PMID: 30602203 [PubMed – in process]

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Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.

Proc Natl Acad Sci U S A. 2018 Dec 27;:

Authors: Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, Liu Y, Lehle AS, Magg T, Hollizeck S, Rohlfs M, Conca R, Field M, Warner N, Mordechai S, Shteyer E, Turner D, Boukari R, Belbouab R, Walz C, Gaidt MM, Hornung V, Baumann B, Pannicke U, Al Idrissi E, Ali Alghamdi H, Sepulveda FE, Gil M, de Saint Basile G, Hönig M, Koletzko S, Muise AM, Snapper SB, Schwarz K, Klein C, Kotlarz D

Abstract
Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is a critical regulator of cell death and inflammation, but its relevance for human disease pathogenesis remains elusive. Studies of monogenic disorders might provide critical insights into disease mechanisms and therapeutic targeting of RIPK1 for common diseases. Here, we report on eight patients from six unrelated pedigrees with biallelic loss-of-function mutations in RIPK1 presenting with primary immunodeficiency and/or intestinal inflammation. Mutations in RIPK1 were associated with reduced NF-κB activity, defective differentiation of T and B cells, increased inflammasome activity, and impaired response to TNFR1-mediated cell death in intestinal epithelial cells. The characterization of RIPK1-deficient patients highlights the essential role of RIPK1 in controlling human immune and intestinal homeostasis, and might have critical implications for therapies targeting RIPK1.

PMID: 30591564 [PubMed – as supplied by publisher]

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Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency.

J Pediatric Infect Dis Soc. 2018 Dec 26;7(suppl_2):S79-S82

Authors: Freeman AF

Abstract
Hematopoietic stem cell transplantation (HSCT) has been the standard of care for infants with severe combined immunodeficiency (SCID) for several decades due to the dismal prognosis early in life without immune reconstitution. In recent years, as HSCT conditioning regimens and supportive care have greatly improved, HSCT is gaining in acceptance for more non-SCID primary immunodeficiencies (PIDs) and outside the early childhood period. In addition, potential donor options for non-SCID PIDs are expanding with increasing success for haploidentical donor transplants. In this brief report of a presentation at the PIDS-St. Jude 2018 conference, PIDs for which transplants are increasingly performed outside of early childhood will be discussed.

PMID: 30590661 [PubMed – in process]

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Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency.

J Pediatric Infect Dis Soc. 2018 Dec 26;7(suppl_2):S79-S82

Authors: Freeman AF

Abstract
Hematopoietic stem cell transplantation (HSCT) has been the standard of care for infants with severe combined immunodeficiency (SCID) for several decades due to the dismal prognosis early in life without immune reconstitution. In recent years, as HSCT conditioning regimens and supportive care have greatly improved, HSCT is gaining in acceptance for more non-SCID primary immunodeficiencies (PIDs) and outside the early childhood period. In addition, potential donor options for non-SCID PIDs are expanding with increasing success for haploidentical donor transplants. In this brief report of a presentation at the PIDS-St. Jude 2018 conference, PIDs for which transplants are increasingly performed outside of early childhood will be discussed.

PMID: 30590652 [PubMed – in process]

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Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency.

J Pediatric Infect Dis Soc. 2018 Dec 26;7(suppl_2):S79-S82

Authors: Freeman AF

Abstract
Hematopoietic stem cell transplantation (HSCT) has been the standard of care for infants with severe combined immunodeficiency (SCID) for several decades due to the dismal prognosis early in life without immune reconstitution. In recent years, as HSCT conditioning regimens and supportive care have greatly improved, HSCT is gaining in acceptance for more non-SCID primary immunodeficiencies (PIDs) and outside the early childhood period. In addition, potential donor options for non-SCID PIDs are expanding with increasing success for haploidentical donor transplants. In this brief report of a presentation at the PIDS-St. Jude 2018 conference, PIDs for which transplants are increasingly performed outside of early childhood will be discussed.

PMID: 30590639 [PubMed – in process]

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Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency.

J Pediatric Infect Dis Soc. 2018 Dec 26;7(suppl_2):S79-S82

Authors: Freeman AF

Abstract
Hematopoietic stem cell transplantation (HSCT) has been the standard of care for infants with severe combined immunodeficiency (SCID) for several decades due to the dismal prognosis early in life without immune reconstitution. In recent years, as HSCT conditioning regimens and supportive care have greatly improved, HSCT is gaining in acceptance for more non-SCID primary immunodeficiencies (PIDs) and outside the early childhood period. In addition, potential donor options for non-SCID PIDs are expanding with increasing success for haploidentical donor transplants. In this brief report of a presentation at the PIDS-St. Jude 2018 conference, PIDs for which transplants are increasingly performed outside of early childhood will be discussed.

PMID: 30590630 [PubMed – in process]

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