Severe Combined Immunodeficiency: A Guide for Primary Care Givers

Seth, Divya; Ruehle, Mary; Kamat, Deepak

doi:10.1177/0009922819859867

Cited by 3 publications

(5 citation statements)

References 25 publications

(38 reference statements)

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“…If required, blood products should be irradiated, leukocytereduced with filters, and CMV-negative to prevent transmission and GVHD from donors' viable lymphocytes. 33 The patient's flow cytometry showed: Severely low CD3, CD4, CD8, low CD16+CD56 and near normal CD19 counts indicated T-B+ NK-phenotype of SCID. Mitogen proliferation testing revealed severely low lymphocyte responses to PHA and concanavalin A, compared to control.…”

Section: Blood Productsmentioning

confidence: 93%

“…If required, blood products should be irradiated, leukocyte-reduced with filters, and CMV-negative to prevent CMV transmission and GVHD from donors’ viable lymphocytes. 33 …”

Section: Prevention Measuresmentioning

confidence: 99%

“…Once an infant is confirmed to have SCID, chemoprophylaxis against Pneumocystis jirovecii pneumonia (PJP) with oral trimethoprim-sulfamethoxazole or intravenous pentamidine is advised. Fungal prophylaxis with fluconazole, MAC prophylaxis with azithromycin, 33 and viral prophylaxis against the Herpesviridae family with acyclovir should be considered. Palivizumab is considered during the peak season of RSV, typically from November to March.…”

Section: Antimicrobial Prophylaxismentioning

confidence: 99%

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Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?

Mongkonsritragoon

Huang

Fredrickson

et al. 2023

Clin Med Insights Pediatr

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Severe combined immunodeficiency (SCID) is a group of diseases characterized by low T-cell count and impaired T-cell function, resulting in severe cellular and humoral immune defects. If not diagnosed and treated promptly, infants affected by this condition can develop severe infections which will result in death. Delayed treatment can markedly reduce the survival outcome of infants with SCID. T-cell receptor excision circle (TREC) levels are measured on newborn screening to promptly identify infants with SCID. It is important for primary care providers and pediatricians to understand the approach to managing infants with positive TREC-based newborn screening as they may be the first contact for infants with SCID. Primary care providers should be familiar with providing anticipatory guidance to the family in regard to protective isolation, measures to minimize the risk of infection, and the coordination of care with the SCID coordinating center team of specialists. In this article, we use case-based scenarios to review the principles of TREC-based newborn screening, the genetics and subtypes of SCID, and management for an infant with a positive TREC-based newborn screen.

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Section: Blood Productsmentioning

confidence: 93%

“…If required, blood products should be irradiated, leukocyte-reduced with filters, and CMV-negative to prevent CMV transmission and GVHD from donors’ viable lymphocytes. 33 …”

Section: Prevention Measuresmentioning

confidence: 99%

Section: Antimicrobial Prophylaxismentioning

confidence: 99%

See 1 more Smart Citation

Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?

Mongkonsritragoon

Huang

Fredrickson

et al. 2023

Clin Med Insights Pediatr

Self Cite

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“…Severe Combined Immunodeficiency (SCID) describes a group of rare genetic disorders characterized by extreme deficits in immune functioning, which leaves affected individuals highly susceptible to frequent, life-threatening infections [1,2]. Prior to the development of hematopoietic stem cell transplantation (HSCT) as a treatment for SCID in 1968, the condition was universally fatal, often in infancy [3,4].…”

Section: Severe Combined Immunodeficiency Syndrome: a Source Of Paren...mentioning

confidence: 99%

Parental coping with uncertainties along the severe combined immunodeficiency journey

Kutsa

Andrews

Mallonee

et al. 2022

Orphanet J Rare Dis

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Background Severe combined immunodeficiency (SCID) is a group of rare genetic disorders that cause disruption in immune system functioning. Parents of children with SCID experience many uncertainties related to their child’s diagnosis, treatment, recovery, and quality of life. To fully understand parents’ experiences throughout their SCID journey, it is important to explore the stressors generated by such uncertainties and how parents cope with these stressors. Methods We conducted 26 in-depth interviews with parents whose child was diagnosed with SCID or a SCID-like condition through newborn screening. The interviews explored uncertainties related to their child’s diagnosis and how parents coped with these uncertainties. Transcripts were generated from the interviews and analyzed using an inductive content analysis approach which included data immersion, generation and assignment of codes, and interpretation. Results Parents used a variety of behavioral, cognitive, and affective coping strategies which evolved throughout their SCID journeys. Some parents reported coping by playing an active role in their child’s treatment, which included reaching out to other SCID parents or seeking second medical opinions. Other types of coping included establishing house hygiene rules, thinking positively about the child’s treatment progress, and relying on family members for help. These coping strategies were both deliberate and intuitive. Participants also described their struggles in coping with stressors related to their child’s health and survival. They reported difficulty in processing their emotions and experiencing denial and guilt related to their child’s diagnosis. Some parents adapted to ongoing uncertainties through such strategies as positive thinking, self-reflection, and relying on family and community. With successful adaptation, parents emphasized that they continue to use these strategies today. Conclusion Our assessment revealed that parents of children diagnosed with SCID use a variety of behavioral, cognitive, and affective approaches to cope with SCID uncertainties. Although parents reported challenges in coping with SCID uncertainties, they also reported finding ways to overcome these stressors and establish patterns of effective coping. Findings from our study can serve as a guide for parents whose child was newly diagnosed with SCID and for providers such as social workers, genetic counselors, and psychologists.

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“…Severe combined immune deficiency (SCID) is a group of genetic disorders that cause profound defects in cellular and humoral immunity characterized by a deficiency or absence of T-cells (1,2). Patients with SCID are highly susceptible to severe and recurrent infections, which can result in significant morbidity or mortality in infancy.…”

Section: Introductionmentioning

confidence: 99%

Information and Emotional Support Needs of Families Whose Infant Was Diagnosed With SCID Through Newborn Screening

et al. 2020

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Background: Now that severe combined immune deficiency (SCID) has been added to newborn screening panels in all 50 states in the U.S., there is a need to develop and disseminate well-designed educational materials to parents who need information to make informed decisions about treatment and care for identified infants. SCID Compass was designed to address this gap. We summarize the results of two needs assessment activities for parents-a journey mapping exercise and online survey-which will inform the development of a website and new resources.Methods: We conducted in-depth interviews with seven parents of children with SCID identified through newborn screening. Participants were asked to complete a journey map to describe key timepoints related to SCID, starting at diagnosis through present day. This qualitative information informed an online survey that was completed by 76 parents who had a child with SCID. All participants were from the United States.Results: Analysis of journey maps revealed five distinct stages that parents experience: (1) Diagnosis, (2) Pre-Treatment, (3) Treatment, (4) Post-Treatment, and (5) The New Normal. At each stage, parents described unique emotions, challenges, contextual factors that can make a difference in their experience, and information and resource needs. Survey results indicated the highest-rated information needs for parents were understanding available treatment options and what to expect across the SCID lifespan. Emotional support needs included dealing with uncertainty about child's future and additional opportunities to connect with other families. Parents preferred receiving new materials from their healthcare provider or other families, and preferred materials in print, from social media, or online. Several differences were found among subgroups of parents, including those whose child had been identified through newborn screening as well as those considered medically underserved.Conclusions: Findings about unmet parent needs and informational preferences will serve as the foundation for creating a suite of resources for those who have a child Raspa et al.Unmet Parent Needs in SCID with SCID. The materials will be tailored to specific stages of the journey. By using a family-centered approach, we will help to ensure that the materials designed and developed as part of SCID Compass will be understandable, comprehensive, and useful.

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Severe Combined Immunodeficiency: A Guide for Primary Care Givers

Cited by 3 publications

References 25 publications

Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?

Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?

Parental coping with uncertainties along the severe combined immunodeficiency journey

Information and Emotional Support Needs of Families Whose Infant Was Diagnosed With SCID Through Newborn Screening

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