Evaluation of the Child with Immunodeficiency Disorder

Woo, Chee K; Bahna, Sami L.

doi:10.3928/00904481-20110316-08

Cited by 3 publications

(2 citation statements)

References 32 publications

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“…For example, incidence in Sweden is 0.35 per 100,000 persons, while in southern Australia a prevalence of 12.4 per 100,000 persons is observed, and it rises to 1 in 1,200 persons in United States. Immunoglobulin deficiency accounts for 70-80% of all PID [1,5,6]. For the remaining 20-30%, current estimates of PID prevalence are considered reliable for two reasons -the relatively low number of cases and the possibility of misdiagnosis due to the similar symptoms of other diseases such as repeated infections.…”

Section: Box 1 Primary Immunodeficiency (Pid)mentioning

confidence: 97%

“…It is characterized by genetic defects in various components of the innate and adaptive immune system, such as neutrophils, macrophages, dendritic cells, complement proteins, natural killer cells, and T and B lymphocytes. The study of these diseases has provided essential insights into the functioning of the immune system [1,2]. PID is distinct from Secondary Immunodeficiency Disease originated from infections or treatment of immunomodulatory drugs [3].…”

Section: Box 1 Primary Immunodeficiency (Pid)mentioning

confidence: 99%

See 1 more Smart Citation

Tight Interdigitating Developmental Processes within the Thymus; Lessons from Primary Immunodeficiency with Autoimmunity

Han¹,

Choi²

2014

Am. J. Biomed. Sci.

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The underlying cause of the enigmatic coexistence of immunodeficiency and autoimmune disorders in patients with primary immunodeficiency such as Omenn syndrome is largely due to the inefficient negative selection within thymus where T cells develop. Recent advances in molecular biology and animal models answered one of the key questions on the relationship between the partially impaired T cell development at early stages and the presence of autoreactive T cells in periphery. T cell development and thymic organogenesis are tightly coupled to each other. The maturing T cells induce thymic epithelial cell development and AIRE (Autoimmune regulator) expression in thymic medullary epithelial cells. Without thymic medullary epithelial cells and AIRE protein in the patients with primary immunodeficiency, a few autoreactive T cells survive through the complete thymic selection processes and expand to form oligoclonal T cell pools in the periphery. The induction of thymic medullary epithelial cell development may be considered as an alternative therapeutic approach in addition to the current standard therapy for primary immunodeficiency -stem cell transplantation.

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Section: Box 1 Primary Immunodeficiency (Pid)mentioning

confidence: 97%

Section: Box 1 Primary Immunodeficiency (Pid)mentioning

confidence: 99%

Tight Interdigitating Developmental Processes within the Thymus; Lessons from Primary Immunodeficiency with Autoimmunity

Han¹,

Choi²

2014

Am. J. Biomed. Sci.

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Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency

et al. 2022

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Genetic disorders that impair the immune system, known as Primary Immunodeficiencies (PI), include over 450 single-gene inborn errors of immunity. Timely and appropriate diagnosis and treatment is vital to quality of life (QOL) and sometimes survival, as patients are susceptible to frequent, persistent, severe, and sometimes life-threatening infections or autoimmunity. Suspected PI patients that do not have a genetic diagnosis often endure a prolonged, onerous, inefficient, and expensive experience, known as a diagnostic odyssey. The resulting diagnostic delay prohibits proper disease management and treatment, causing unnecessary distress and diminished QOL. Next-generation sequencing (NGS) offers relief from the distress of the diagnostic odyssey, but because of cost and barriers to access, it is regularly unobtainable. The Jeffrey Modell Foundation (JMF) introduced “Jeffrey’s Insights”, a no-charge genetic sequencing pilot program, in January 2019 for patients within the Jeffrey Modell Centers Network (JMCN) with an underlying PI, but no genetic diagnosis. Building on the success of the pilot program, JMF expanded it globally to more than 400 Centers in the JMCN in early 2020. The most current version of Invitae’s PI Panel available was used for this program. All participating clinicians were invited to complete a brief questionnaire assessing prior impediments to access and post-sequencing alterations in disease management and treatment. A total of 1,398 patients were tested, with 20.3% receiving a molecular diagnosis and many more receiving helpful diagnostic leads. Results obtained from genetic sequencing led to an alteration of clinical diagnosis, disease management, treatment, and genetic counseling in 39%, 38%, 35%, and 53% of patients, respectively. The global expansion of this program further underscores the crucial need for NGS for PI, along with its efficiency and potential cost savings. The results of this program to date further define rationale for the availability of comprehensive diagnostic NGS for patients with PI when requisitioned by an expert immunologist.

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Family Physician Perspectives on Primary Immunodeficiency Diseases

Seeborg¹,

Boyle²,

Scalchunes³

et al. 2016

Front. Med.

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Primary immunodeficiency diseases (PIDs) include over 250 diverse disorders. The current study assessed management of PID by family practice physicians. The American Academy of Allergy, Asthma, and Immunology Primary Immunodeficiency Committee and the Immune Deficiency Foundation conducted an incentivized mail survey of family practice physician members of the American Medical Association and the American Osteopathic Association in direct patient care. Responses were compared with subspecialist immunologist responses from a similar survey. Surveys were returned by 528 (of 4500 surveys mailed) family practice physicians, of whom 44% reported following ≥1 patient with PID. Selective immunoglobulin A deficiency (21%) and chronic granulomatous disease (11%) were most common and were followed by significantly more subspecialist immunologists (P < 0.05). Use of intravenously administered immunoglobulin and live viral vaccinations across PID was significantly different (P < 0.05). Few family practice physicians were aware of professional guidelines for diagnosis and management of PID (4 vs. 79% of subspecialist immunologists, P < 0.05). Family practice physicians will likely encounter patients with PID diagnoses during their career. Differences in how family practice physicians and subspecialist immunologists manage patients with PID underscore areas where improved educational and training initiatives may benefit patient care.

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Evaluation of the Child with Immunodeficiency Disorder

Cited by 3 publications

References 32 publications

Tight Interdigitating Developmental Processes within the Thymus; Lessons from Primary Immunodeficiency with Autoimmunity

Tight Interdigitating Developmental Processes within the Thymus; Lessons from Primary Immunodeficiency with Autoimmunity

Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency

Family Physician Perspectives on Primary Immunodeficiency Diseases

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