Alix Steele

English101-13

Dr. Cassel

2 November 2018

Annotated Bibliography

My fact question is concerned with Primary Immunodeficiency (PID) and how it affects

someone’s day to day life and how one should manage it. How does one live with PID and how

does one get the medicine they need? What should people know about PID? Is there

something people can do to get involved?

Sharma, Dhrubajyoti, et al. “Approach to a Child with Primary Immunodeficiency

Made Simple.” Indian Dermatology Online Journal, vol. 8, no. 6, Nov. 2017, pp. 391–

405. EBSCOhost, doi:10.4103/idoj.IDOJpass:[_]189_17.

Primary Immunodeficiency disorders (PID) are a set of disorders affecting the capability to

fight against an infection. This includes defects in the T and B cells affecting cell-mediated and

humoral immunity, respectively combined humoral and cell-medicated immunodeficiency. This

disrupts the signally pathways which are detrimental for immune function. Depending on the

type and severity, age at onset conditions can vary from neonatal period to late childhood. It is

known that this set of disorders can involve any organ system of the individual including the

respiratory system, skin and mucous membrane, bone and joints, and many more. Common
dermatological manifestations include eczema, warts, skin abscesses, nail changes, and much

more.

Primary Immunodeficiency disorders occur due to a defect in the development and or

function of innate or adaptive immune system. Humoral Immunodeficiencies are characterized

by defective B cells resulting in impaired antibody production. Cellular immunodeficiencies are

caused by defects in T cells. Primary Immunodeficiencies are single gene defects a follow a

Mendelian inheritance pattern, but the common variable immunodeficiencies (CVID) have

complex polygenetic inheritance. More than three hundred different types of Primary

Immunodeficiencies have been identified. PID can be identified as early as a newborn (severe

combined immunodeficiency disease (SCID)) to as late as late adulthood (common variable

immunodeficiency (CVID)). The most common age to identify PID is infancy and early

childhood. Patients with PID are not only predisposed to infection complications, but also

noninfectious immune complications such as autoimmune diseases and malignancies. Primary

Immunodeficiencies as a group are not rare, in fact studies in the United States reported that 1

of 1200 people are able to get PID. Communities with higher rates of consanguineous and

endogamous marriages.

Sharma, Jindal, Rawat, and Singh wrote this article to give information to parents

learning about a child with Primary Immunodeficiency. They will have an easier time

understanding what their child is going through and what diseases could be a possibility occur

with this disorder. This information was published on the Indian Dermatology website with the

authors having done much research with this disorder.

 The main author Dhrubajyoti Sharma, has a Post-Doctoral Course (DM) in Immunology

and Rheumatology. Sharma is a senior resident in the Department of Pediatrics in Chandigarh,

India. This is a credible source because there are no ads that pop up, so nothing is being sold

just information given. The paper says that this paper comes from the Allergy Immunology

Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research all

in Chandigarh, India.

This website will be a reliable source to my research with the information given on how

Primary Immunodeficiency affects someone’s day to day life and how they will be able to

manage the possible affects that come with it. For example, it gives you multiple effects like

eczema, APECED (mutation in AIRE gene), WHIM syndrome, NEMO deficiency, and many more.

You learn how each of these possible illnesses were formed and what you should do if these

occur.

Immuno Deficiency Foundation, 2018, https://primaryimmune.org/about-

primary-immunodeficiencies. Accessed 24 Oct. 2018.

Primary Immunodeficiency diseases (PI) are a group of more than three hundred and

fifty rare, chronic disorders in which part of the body’s immune system is missing or functions

improperly. These diseases are not contagious, they are caused by hereditary or genetic

defects. This is usually present at birth or early childhood but can happen to any gender at any

age. While this disease may differ, they all share one common feature: each results from a

defect in one of the functions of the body’s normal immune system. The most important

function of the immune system is to protect us from infections, patients with PI commonly have
an increased in susceptibility to infection. People with PI live their entire lives more susceptible

to infections--enduring recurrent health problems and often developing serious and debilitating

illnesses. Fortunately, with proper medical care, many patients live full and independent lives.

Children that are affected by PI can lead to a lot of absences in school. This can cause children

to fall behind on their work, friends and teachers asking why they aren’t at school, and missing

time with their friends. Each parent should talk to the school about their child’s disorder.

Federal laws, the Individuals with Disabilities Education Act (IDEA) and Section 504 of the

Rehabilitation Act of 1973, include requirements and guidelines for how schools should

respond if a student’s learning is affected by a health condition. As the patients grow older,

they should always remember that the best job plays to your strengths. Remember that you

aren’t the only one with limitations—everyone has limitations in one way or another. The ADA

prohibits discrimination in all employment practices against “qualified individuals with

disabilities.” This means that you cannot be eliminated from consideration for employment or

from your job because of your PI if you have the skills, experience, education or other

requirements for the job you can perform the essential functions of the position with or

without reasonable accommodation.

The writers purpose of this entire website is to show everyone with Primary

Immunodeficiency that they are not alone and to help them get adjusted to the life they will be

living with this disorder. It not only helps the patients but also family members who are with

them through most of this experience. This was published by the Immune Deficiency

Foundation which helps raise money to find a cure, set up different events around the country,

and researches about the disorder.

 This website is a very reliable piece because it answers both the questions of how PID

affects someone’s day to day life and how someone can manage it. On the website you are

able to choose the tab that says “Living with PI” and you are able to choose multiple topics like

“PI in school” or “PI in the workplace” which shows what affects it can have on you in the public

places and how you will be able to manage it.

Hovermale, Emily, et al. “Comparative Effectiveness Research in the United States

and Primary Immunodeficiency Diseases.” Pharmaceuticals Policy & Law, vol. 13, no.

3/4, Sept. 2011, pp. 183–191. EBSCOhost,

ezproxy.wittenberg.edu/login?url=https://search.ebscohost.com/login.aspx?direct=t

rue&db=a9h&AN=70936256&site=ehost-live.

Primary Immunodeficiency diseases (PIDD) represent a class of disorders in which there

is an intrinsic defect in the immune system. In some cases, the body fails to produce any or

enough antibodies to fight infection. In other cases, the cellular, phagocytic or complement

defenses against infection fail to work properly. A study yielded that 1 in 1,200 people in the

United States were diagnosed with Primary Immunodeficiency Diseases. People with PIDD

receive treatment through infusions of immunoglobulin therapy, which is very effective

replacement for the antibody deficiency forms of the disease. The data cited in Boyle and

Scalchunes’ article in Pharmaceuticals Policy and Law based on past IDF surveys highlights the

use of IG therapy as an effective treatment for many patients with PIDD. This treatment greatly

improves the health and quality of life for these patients. For instance, in the study prior to

diagnosis people with PIDD who used IG therapy described their health status very low. Twelve
months later in the most recent survey the same patients described their health status in a

much more positive way. The patients feel their health status was much more positive was

because after this treatment there were lower incidents with chronic and acute infections

associated with PIDD. In the United States there is currently an emphasis on reducing

healthcare costs, this could be a problem because the comparative effectiveness research could

be used as a justification to focus more on cost containment rather than the quality of care.

Research shows that IG therapy is underused in the primary immunodeficient community

because of the cost and lack of insurance coverage. Attempts to treat these therapies as

generic, with hopes of containing costs, will be detrimental to the patient’s safety.

The writers purpose of this article is to give you actual information from a study done that

shows how the patient will be affected with the Immunoglobin Therapy. They want to make

the readers aware of what is going on not only in the United States, but around the world.

Hopefully, with the information given about the importance of this therapy there will be more

coverage over the United States new emphasis on reducing healthcare costs. This therapy is

saving people’s lives and cannot be taken away. This article is not only written to people with

PIDD, but to a general audience that should understand what the United States government is

taking away from patients.

The authors of this article include Emily Hovermale, Christopher Scalchunes, and Marcia Boyle

who all work for the Immune Deficiency Foundation. Scalchunes is currently the Vice President

of Research at this organization. This shows that his work has been approved through studies
and makes him a credible author. This article is credible because it has no pop-up ads and gives

you information with the sources cited at the end.

The article starts by giving you a main idea of what Primary Immunodeficiency is and how many

people are affected by this disorder in the United States. It gives you information from a study

does and shows you how the Immunoglobin therapy can change someone’s life. Towards the

end of the article you hear how the United States Government wants to cut down the cost of

healthcare. Although, this may be helpful in some situations you see how people with PIDD will

be affected. They give you multiple ideas of how this therapy can change someone’s day to day

life in a matter of months and how it will help them manage the change.

Leung, Jessica, et al. “Prevalence of Granulomas in Patients with Primary

Immunodeficiency Disorders, United States: Data From National Health Care Claims

and the US Immunodeficiency Network Registry.” Journal of Clinical Immunology, vol.

38, no. 6, Aug. 2018, pp. 717–726. EBSCOhost, doi:10.1007/s10875-018-0534-7.

Primary immunodeficiency disorders represent a heterogeneous class of over 350

disorders which are all an inherited defect in immune responses. People with PIDD are at a

higher risk of infections which causes their life expectancy to range from one to forty-nine years

of age. People with Primary Immunodeficiency are at a high risk of granulomas which are

inflammatory infiltrates, which can occur in different tissues as a self-limited or severe

condition that can continue for years. Among commercially insured PIDD patients, the

proportion with a claim of granulomas during the study period ranged from 1.0% among those

with congenital defects of phagocyte number or function to 1.6% among those with defects in
intrinsic and innate immunity. Among Medicaid-insured PIDD patients, the proportion with a

claim for granulomas during the study period ranged from 1.1% among those with congenital

defects of phagocyte number or function to 2.0% among those with autoinflammatory

diseases, complement deficiencies, defects in intrinsic and innate immunity, or diseases of

immune dysregulation. To test the hypothesis created that T cell control of antigen persistence

or T cell immune dysregulation contributed to granuloma formation, we compared the T cell

count in PIDD patients with and without granulomas. The average initial T cell count was

significantly lower in the 86 PIDD patients with granulomas. We can conclude that granulomas

in PIDD patients is 1-4%. The study provides an estimate of the proportion of PIDD patients and

suggests that granulomas are an uncommon occurrence among patients with PIDD.

The writers purpose of this article is to give not only patients, but possibly doctors answers to a

study that could help save lives. They are now able to find granulomas and must treat them.

This has opened a door to new opportunities to find new ways to prevent them from occurring.

We now know that they don’t occur in people with PIDD as often, but it would be smart if we

were able to treat them when they do occur.

The authors of this article include Jessica Leung, Kathleen Sullivan, Ludmila Perelygina, Joseph

P. Icenogle, Ramsay Fuleihan, and Tatiana M. Lanzieri who all wrote for the Journal of Clinical

Immunology. These authors all work for either the National Center of Immunization and

Respiratory Diseases, Department of Pediatrics, Division of Allergy and Immunology and many

more. They are all credible and did this study together, so the results are accurate.
This article states the effects of granulomas and how they can affect someone’s day to day life

if they occur. The authors show through many studies that it is a less common for granulomas

to occur in patients with PIDD, but it can be very severe when done. They are working on a

better way to manage granulomas and hopefully cut the length of them down.

“Severe Combined Immunodeficiency.” Encyclopedic Reference of Cancer, Jan. 2001,

pp. 818–819. EBSCOhost,

ezproxy.wittenberg.edu/login?url=https://search.ebscohost.com/login.aspx?direct=t

rue&db=a9h&AN=23678748&site=ehost-live.

Severe Combined Immunodeficiency Syndrome (SCID) is a life-threatening condition

leading to early infant death because of severe infection, due to impaired cellular and hormonal

immune systems. Various forms of SCID are classified based on the presence or absence of T

cells, B cells and natural killer cells. The primary treatment of choice for most types of SCID, is

allogenic hematopoietic stem cell transplantation which should be performed prior to the

development of severe infection to achieve the best outcome. In conclusion, SCID is a pediatric

emergency which should be considered in patients with history of recurrent infections, family

history of early childhood death, and consanguineous marriage. Early diagnosis is so important

for treatment. Survival of this disorder depends on stem cell transportation which must be

performed before the onset of severe infection.

The article is written towards medical audiences around the world to show what has happened

in Iran with SCID and how the effects can be limited when diagnosed early. This is a credible

source because the authors of this article did their own study and presented the results. This is
a reliable source for what is happening in a different country, but we need a study to see what

is happening with this disorder in the United States.

There are many authors that wrote this article who work all around Iran in many different

hospitals or clinics with children and infectious diseases. Like I said above the authors did their

own study and presented the results, so their information is reliable from their study. This is a

reliable article because it was written in the Iranian Journal of Allergy, Asthma, and

Immunology. This information is very helpful when looking at this disorder, but because it was

written in a different country we need to see how SCID is effecting the United States.