University of Guyana

Faculty of Natural Sciences

Department of Biology

BIO4115 – Immunology

Lecturer: Ms. Ruth Daniel

Assignment #1
IMMUNODEFICIENCY DISEASES

Anuradha Ramnauth
1037859

Submission: Monday, 23 October 2023

Introduction:

The immune system is in charge of identifying non-self-antigens and coordinating a coordinated

response to them (Chaplin, 2010). Additionally, the immune system aids the host in getting rid of
harmful or allergic chemicals that come in through mucosal surfaces (Chaplin, 2010). As the
immune system carries out its duty to maintain the body's health, diseased, damaged, or dead
cells are continuously eliminated (Chaplin, 2010). However, if the immune system fails to
perform its duty, immunodeficiency symptoms may appear, which may then progress into
illnesses and conditions that impair the immune system's capacity to fight infections (Chaplin,
2010). The immune system has evolved to protect the host from a universe of pathogenic
microbes that are constantly evolving (Chaplin, 2010). Immunodeficiency is the inability to
produce an adequate immune response because of an insufficiency or absence of antibodies,
immune cells such as lymphocytes, phagocytes, or both (Qurie & Justiz Vaillant, 2023).

Immunodeficiency diseases arise from a reduced or nonexistent immunological response as such

failure to protect its host from infectious agents such as bacteria, viruses, cancer cells and
parasites (Henochowicz, 2022a). Immunodeficiency diseases are usually linked with infections
of varying degrees of severity that occur repeatedly and with enhanced susceptibility to
malignancies (Mortaz et al., 2016). Collectively, immunodeficiency diseases may arise through
defective immunity, both innate and specific, genetic/developmental abnormalities in young
children or through loss of function due to physical, chemical, or biological agents such as
malnutrition, severe stress or infectious disease (Mohanty & Leela, 2014). The immune system
produces antibodies, which are proteins that neutralize dangerous chemicals, in response to
detecting an antigen (Henochowicz, 2022a). Another step in the immune system's response is
phagocytosis, where engulfment of the pathogen occurs (Henochowicz, 2022a). Certain white
blood cells take up and eliminate germs and other foreign materials during this process
(Henochowicz, 2022a). Additionally, the immune system stimulates T cells, which communicate
with B cells (Henochowicz, 2022a). Disorders related to immunodeficiency can impact any
aspect of the immune system. These disorders most frequently arise from abnormal function of T
lymphocytes, B lymphocytes, both T and B lymphocytes or from insufficient antibody
production by the body (Henochowicz, 2022a). Examples of inherited immunodeficiency
disorders that impact B cells are hypogammaglobulinemia, which typically results in
gastrointestinal and respiratory infections, and agammaglobulinemia, which frequently results in
severe infections at an early age (Henochowicz, 2022a). Repeated yeast infections caused by
Candida can be a symptom of inherited immunodeficiency disorders that impact T lymphocytes
(Henochowicz, 2022a). The condition known as inherited mixed immunodeficiency impacts both
B and T lymphocytes (Henochowicz, 2022a).

An abnormality in the body's natural development whereby the immune system launches an
assault on its own cells is referred to as autoimmunity (Pozun & Kurup, 2022). Autoimmune
illnesses have a complex etiology, with genetic, hormonal, and environmental factors
contributing to their development (Pozun & Kurup, 2022). Thus, autoimmune disorders arise
when the immune system targets the body's own tissues in response to self-antigens (Pozun &
Kurup, 2022). When auto-reactive B lymphocytes (autoantibodies) and T cells injure the organ or
tissue that contains the target autoantigen(s) pathologically or functionally, autoimmune
disorders result (Paharia, 2022). Therefore, rather than being a benign accompaniment, auto-
reactive cells are the true cause of autoimmune disorders (Paharia, 2022). Idiopathic
thrombocytopenic purpura, systemic lupus erythematosus (SLE), Hashimoto's thyroiditis,
Graves' disease of the thyroid, Sjogren's syndrome, Churg-Strauss syndrome, Coeliac disease,
rheumatoid arthritis (RA), and insulin-dependent diabetes mellitus (IDDM) are a few examples
of autoimmune disorders (Paharia, 2022).

A basic overview of immunodeficiency diseases will be given during a deeper examination of

this document, including the different classifications, types, causes, and possible treatment
methods.

Classification:

There are two classifications of immunodeficiencies: primary and secondary (Qurie & Justiz
Vaillant, 2023).

Types of primary immunodeficiency include those that result in complement deficiency,

phagocyte deficiency, immunoglobulin A deficiency, T-cell deficiency, B-cell deficiency, and
both T-cell and B-cell deficiency (Qurie & Justiz Vaillant, 2023). Primary immunodeficiencies
can develop on its own or in conjunction with other immunological and nonimmune disorders
(Fernandez, 2023b). They are genetically determined immunodeficiencies (Fernandez, 2023b).
Symptoms of nonimmunity are frequently easier to identify than immunodeficiency symptoms
(Fernandez, 2023b). It is estimated that about 20 to 30 percent of primary immunodeficiencies
that occur today have a genetic mutation that can be identified, despite breakthroughs in genetic
research (Fernandez, 2023b). Typically, infections that are atypical or abnormally frequent during
infancy and youth are the first signs of primary immunodeficiencies (Fernandez, 2023b). 60% of
patients are male due to X-linked transmission, and about 70% of patients have onset before the
age of 20 (Qurie & Justiz Vaillant, 2023). The primary immune system component that is absent,
impaired, or faulty is used to categorize individuals with primary immunodeficiencies
(Fernandez, 2023b). DiGeorge syndrome is one of the primary immunodeficiencies that results
in T-cell deficiency; X-linked agammaglobulinemia is one that results in B-cell deficiency;
severe combined immunodeficiency disease and Major Histocompatibility Complex deficiency
are two that result in both T-cell and B-cell deficiency; hereditary angioedema and C2 or C4
deficiency due to autoimmunity are two that lead to complement deficiency (Qurie & Justiz
Vaillant, 2023).

Patients who are hospitalized, elderly, or critically ill might potentially develop secondary
immunodeficiency (Qurie & Justiz Vaillant, 2023). Immune responses can be hampered by a
protracted, serious illness, although these effects are frequently reversible if the underlying
condition gets better (Fernandez, 2023b). Rarely, extended exposure to harmful compounds
(such benzene and some pesticides) might impair immunity (Fernandez, 2023b). Loss of serum
proteins, especially IgG and albumin, can cause immunodeficiency through the skin in cases of
severe burns or dermatitis, the kidneys in nephrotic syndrome, and the gastrointestinal (GI) tract
in enteropathy (Fernandez, 2023b). Lymphoma can also be caused by enteropathy, which can
cause lymphocyte depletion. Steroids, nutritional deficiencies, obesity, acquired immune
deficiency syndrome (AIDS), and other viral infections are examples of secondary causes of
immunodeficiency (Fernandez, 2023b).

Causes:

Immunodeficiency has a variety of causes, depending on the illness (The Editors of

Encyclopaedia Britannica, 2022). The reason may be acquired by malnourishment and
unhygienic settings, or it may be inherited. The precise genes are known only for certain genetic
reasons (The Editors of Encyclopaedia Britannica, 2022).
Early detection is typically observed in primary immunodeficiency illnesses, many of which are
inherited due to a genetic abnormality (The Editors of Encyclopaedia Britannica, 2022). Primary
immunodeficiency or PID disorders are hereditary ailments that are frequently brought on by a
combination of environmental variables and an unknown genetic vulnerability, although single-
gene mutations can also cause them (British Society for Immunology, 2017). The mutations are
gene-specific in certain instances; for instance, the ensuing disorder is known as an X-linked
disorder if the mutation occurs on the X chromosome (Fernandez, 2023b). While some PIDs are
identified in early childhood or infancy, the majority are identified much later in life. PIDs are
classified according to whatever immune system component is compromised (British Society for
Immunology, 2017).

A number of circumstances, including as trauma, surgery, long-term infections (like HIV),

immunosuppression from medication treatment, especially glucocorticoids and
immunomodulatory medications, and other conditions can lead to acquired secondary
immunodeficiency diseases (The Editors of Encyclopaedia Britannica, 2022). Secondary
immunodeficiency or SIDs disorders are more prevalent than PIDs and are brought on by either
an underlying disease, like HIV, or an extrinsic cause, like certain treatment regimens or
malnourishment (British Society for Immunology, 2017). Chemotherapy and radiation therapy
can also suppress the immune system, sometimes leading to immunodeficiency disorders
(Fernandez, 2023b). The majority of SIDs can be cured by attending to the underlying issue
(British Society for Immunology, 2017). One condition that might cause a secondary
immunodeficiency problem is diabetes, as excessive blood sugar prevents white blood cells from
functioning. (Fernandez, 2023b).

Phagocytic Deficiency:

Phagocyte deficiencies are those that impact the quantity or functionality of phagocytes which
primarily manifest in the infections they are linked with (Holland & Uzel, 2019). The most
common causes of phagocyte abnormalities are invasive, serious infections caused by fungus and
bacteria (Holland & Uzel, 2019). Phagocytic cells have a dual role in both managing local
invaders and regulating and "mopping up" the havoc those invaders produce (Holland & Uzel,
2019). This is why one of the characteristics of phagocyte immunological deficiencies is that
they combine the impacts of both immune dysregulation and infection susceptibility (Holland &
Uzel, 2019).

Example: Chronic granulomatous disease

The genetic disease known as chronic granulomatous disease (CGD) is characterized by a lack of
production of hydrogen peroxide and other substances by the phagocytes, or bodily cells that
engulf invaders (Immune Deficiency Foundation, n.d.-a). These substances are required to
eradicate specific fungi and bacteria. The hallmark of chronic granulomatous disease (CGD) is a
severe, persistent, and frequently fatal infection that arises from the patient's phagocytes'
inability to create superoxide due to an impairment in the NADPH oxidase enzyme system
(Segal, 1996). This enzyme is responsible for the body's incapacity to fight infections (Segal,
1996). Patients with CGD thus struggle to stop infections from spreading (Immune Deficiency
Foundation, n.d.-a). Massive clusters of immune cells, known as granulomas, consisting of
neutrophils and other cells continue to assemble near the infection site in an effort to manage the
infection (Immune Deficiency Foundation, n.d.-a). Even though small granulomas are minute,
occasionally they can grow to such a magnitude that they form noticeable "knots" that can clog
the urinary tract's or the colon's emptying mechanism (Immune Deficiency Foundation, n.d.-a).
Since CGD is caused by genetic or inherited abnormalities, it is not communicable (Immune
Deficiency Foundation, n.d.-a). A skin or bone infection caused by the bacteria Serratia
marcescens is the most typical CGD illness in infants. Aspergillus, Burkholderia cepacia
complex, Serratia marcescens, Nocardia, and Staphylococcus aureus are additional typical CGD
species (Immune Deficiency Foundation, n.d.-a). Any organ or tissue can get infected in CGD,
although the skin, lungs, lymph nodes, liver, and bones are the most often infected areas
(Immune Deficiency Foundation, n.d.-a).

Picture:

The image demonstrates papulopustlar lesions with an erythematous base scattered on upper and
lower extremities which is a result of Papulopustular Dermatitis due to X-Linked Chronic
Granulomatous Disease (Rajani & Slack, 2019).
Title: Image Showing Papulopustular Dermatitis due to X-Linked Chronic Granulomatous
Disease (Rajani & Slack, 2019)

Humoral Deficiency:

Humoral immunity deficiencies are characterized by the defects of B cells (Chinn, 2022).
Defects in humoral immunity include acquired or congenital anomalies of B-lymphocytes,
complement, and all or some classes of immunoglobulins (Hwangpo & Schroeder, 2023). A
decrease in the number of B cells or defects in the generation of antibodies, or in certain
situations both, can be the outcome of abnormality in these cells (Hwangpo & Schroeder, 2023).
Defects in humoral immunity may be mediated by a lack of B cells or problems with their
function, as well as by the plasma cells' produced antibodies or the B cells themselves (Hwangpo
& Schroeder, 2023). Primary humoral immunodeficiencies differ from other primary
immunodeficiency diseases because of these features (Chinn, 2022). The B cell activity in the
other primary immunodeficiency diseases only contributes partially to the manifestation of such
diseases (Chinn, 2022).

Example: Selective IgA deficiency

Selective IgA deficiency is one of the most common humoral deficiencies. A primary
immunodeficiency known as selective IgA deficiency is characterized by an undetectable level
of immunoglobulin A (IgA) in the blood and secretions without the presence of any other
immunoglobulin deficits (Immune Deficiency Foundation, n.d.-c). With selective IgA
deficiency, IgA immunoglobulin is deficient in the blood and in the respiratory and intestinal
tracts; IgA antibodies principally protect from respiratory infections and diarrhea (Shah, 2015).
Immunoglobulin A (IgA) is absent in people with selective IgA deficiency (SIgAD), yet their
IgG and IgM levels are often within acceptable limits (Immune Deficiency Foundation, n.d.-c).
As such, the serum level of IgA is decreased (< 7 mg/dL (< 70 mg/L, < 0.4375 micromol/liter))
while some other immunoglobulin isotypes as IgG and IgM have normal levels (Fernandez,
2023c). IgA deficiency is typically hereditary, meaning that families will pass it on to their
children, however, IgA deficiency caused by drugs does exist (Henochowicz, 2022b). Many of
those impacted might not even realize they have a deficiency or have no symptoms until their
low IgA level is discovered during an evaluation for another illness, such as celiac disease
(Immune Deficiency Foundation, n.d.-c). Symptomatic individuals may experience a range of
serious clinical issues, such as autoimmune disorders, infections, allergies, bronchitis, chronic
diarrhea, conjunctivitis, gastrointestinal inflammation and mouth and skin infections
(Henochowicz, 2022b). It is vital to understand that all other immune system components
operate normally, except in cases where there is an undetectable quantity of IgA (Immune
Deficiency Foundation, n.d.-c). Patients with autoimmune diseases, anemia from transfusion
reactions, recurrent infections (including giardiasis), familial histories of IgA deficiency, CVID,
or autoimmune diseases, or those taking medications that cause IgA deficiency may be suspected
and diagnosed of having selective IgA deficiency (Fernandez, 2023c). Antibiotics and avoiding
blood products containing IgA are part of the treatment (Fernandez, 2023c). If there are allergic
signs, these are also managed (Fernandez, 2023c).
Picture:

Title: Image Showing a Patient with Selective IgA deficiency (Shah, 2015)
Title: Image Showing a Patient with Atopic Dermatitis which is Associated with Selective IgA
Deficiency (Liu, 2021)

Cell Mediated Deficiency:

Cell-mediated deficiency is a primary immunodeficiency disorder in which there is a defect in

the T-cell (cellular) immune system (Fernandez, 2023b). About 5 to 10% of primary
immunodeficiencies are caused by cellular immunity deficits (T-cell abnormalities), which make
a person more susceptible to infection by viruses, Pneumocystis jirovecii, fungi, other
opportunistic organisms, and several common diseases (Fernandez, 2023b). Those with this
deficit exhibit a distinct range of infection-related issues in contrast to those with a conventional
antibody deficiency (Fernandez, 2023b). Due to the interdependence of the B- and T-cell
immune systems, T-cell diseases also result in Ig deficits (Fernandez, 2023b). DiGeorge
syndrome, X-linked lymphoproliferative syndrome, Chronic mucocutaneous candidiasis, and
Zeta-associated protein 70 (ZAP-70) deficiency are the most prevalent T-cell illnesses
(Fernandez, 2023b). Rare primary abnormalities in natural killer cells may put a person at risk
for malignancies and viral infections, particularly herpesvirus infections (Fernandez, 2023b).
Secondary problems of natural killer cells can also arise in patients with other primary or
secondary immunodeficiencies, cancer patients, autoimmune disease patients, and patients on
specific drugs (Fernandez, 2023b). Absolute lymphocyte count, delayed hypersensitivity skin
tests (such as those employing Candida), HIV testing, and chest x-rays for measuring thymus
size in babies only are among the initial diagnostic procedures for cell-mediated deficiency
(Fernandez, 2023b).
 Example:

An example of cell mediated deficiency is DiGeorge syndrome. T cell abnormalities are a feature
of the primary immunodeficiency disease DiGeorge syndrome (Fernandez, 2023a). DiGeorge
syndrome is characterized by thymic and parathyroid hypoplasia or aplasia that results in
hypoparathyroidism and T-cell immunodeficiency (Fernandez, 2023a). It arises from
chromosomal deletions at 22q11 in the DiGeorge area, chromosome 10p13 gene mutations, and
additional unidentified gene changes that lead to dysembryogenesis of structures that form from
pharyngeal pouches in the eighth week of pregnancy (Fernandez, 2023a). Boys and girls are
equally affected by the majority of occasional cases (Fernandez, 2023a). Inheritance occurs via
autosomal dominant mode. DiGeorge syndrome might exist in part (Fernandez, 2023a). T-cell
function is either incomplete or present in certain amounts (Fernandez, 2023a). Low-set ears,
small receding mandibles, hypertelorism, reduced philtrum, congenital heart defects, and midline
facial clefts are all characteristics of infants with DiGeorge syndrome (Fernandez, 2023a). The
diagnosis of this syndrome is made on the basis of clinical findings and involves chromosomal
analysis, immune system, and parathyroid function evaluations (Fernandez, 2023a). DiGeorge
syndrome is treated either by transplanting hematopoietic stem cells or cultured thymus tissue for
complete disease, or with calcium and vitamin D supplements for partial syndrome (Fernandez,
2023a).

Picture:
Title: Image Showing an Infant that is Affected by DiGeorge syndrome (Ladda, 2019)

Title: Image Showing a Symptom of DiGeorge syndrome (Mayo Clinic, 2017)

Combined Deficiency:
A class of primary immunodeficiencies known as combined immune deficiencies (CID) are
characterized by low or poor functioning levels of both T and B cells in the adaptive immune
system (Immune Deficiency Foundation, n.d.-b). The main form of this deficiency is severe
combined immunodeficiency (SCID) (Immune Deficiency Foundation, n.d.-b). The range of
symptoms associated with CID disorders is broad; some lead to mild to moderate disease, while
others result in severe susceptibility to infections and inflammatory complications due to
immune dysregulation (deficiency of functioning lymphocytes that permits the development of
excessive autoreactivity, autoimmune disease, and inflammation) (Immune Deficiency
Foundation, n.d.-b). People with CID frequently exhibit immunological dysregulation, recurring
infections, and other symptoms unique to their individual syndromes throughout the first two
years of life (Immune Deficiency Foundation, n.d.-b). Some people with CID may exhibit
symptoms of autoimmunity, tissue inflammation, and allergy illnesses instead of infections due
to immune dysregulation (Immune Deficiency Foundation, n.d.-b). Different pathways can cause
autoimmune symptoms. For example, B cell dysfunction might result in the creation of
autoantibodies and organ damage, while T cell dysfunction can cause self-reactivity against the
subject's own tissues (Immune Deficiency Foundation, n.d.-b). Clinical signs such as
autoimmune disorders, severe allergy diseases, or recurrent or uncommon infections are typically
enough to raise suspicions of CID (Immune Deficiency Foundation, n.d.-b). A known family
history of immunodeficiency may lead to a diagnosis (Immune Deficiency Foundation, n.d.-b).
Because the many forms of CID might have very diverse lab results, diagnosing CID can be
quite difficult (Immune Deficiency Foundation, n.d.-b). Blood tests for general immunologic
conditions may reveal decreased T and B cell counts as well as changes in the distribution of
lymphocyte subsets (Immune Deficiency Foundation, n.d.-b). Genetic testing, which entails
sequencing the genes that cause CID in order to search for variations, is thought to be the most
conclusive technique of diagnosis (Immune Deficiency Foundation, n.d.-b). Immunoglobulin
replacement therapy, prophylactic antibiotics, and other preventative measures are beneficial;
immunosuppressive and anti-inflammatory medications are required to manage immunological
dysregulation (Immune Deficiency Foundation, n.d.-b). Nonetheless, hematopoietic stem cell
transplantation (HSCT) is necessary for final therapy in a few cases of CID (Immune Deficiency
Foundation, n.d.-b).

Example:
Bare lymphocyte syndrome type II is an example of a combined deficiency. A type of combined
immunodeficiency (CID) known as bare lymphocyte syndrome type II (BLS II) is an immune
system defect that runs in the family (Bare Lymphocyte Syndrome Type II, 2017). The CIITA,
RFX5, RFXANK, or RFXAP genes are mutated in BLS II (Bare Lymphocyte Syndrome Type II,
2017). A protein that is involved in regulating the transcription (or activity) of genes known as
MHC class II genes is made by each of these genes (Bare Lymphocyte Syndrome Type II, 2017).
As such, mutation of these genes prevents transcription of MHC class II genes resulting in the
lack of the (MHC) class II protein found on lymphocyte (Bare Lymphocyte Syndrome Type II,
2017). Almost no immune defense against bacteria, viruses, and fungi is present in people with
BLS II (Bare Lymphocyte Syndrome Type II, 2017). They are vulnerable to infections that are
severe or even fatal that recur frequently and persistently. The first year of life is usually when
BLS II is diagnosed (Bare Lymphocyte Syndrome Type II, 2017). The majority of affected
newborns have urinary, gastrointestinal and respiratory tract infections and have sores or ulcers
on their face, arms and leg (Bare Lymphocyte Syndrome Type II, 2017). Affected infants grow
slower than their peers and experience malabsorption, or difficulties absorbing nutrition, as a
result of the infections (Bare Lymphocyte Syndrome Type II, 2017). Organ failure eventually
results from the ongoing infections (Bare Lymphocyte Syndrome Type II, 2017). People with BLS
II rarely live into early childhood without therapy (Bare Lymphocyte Syndrome Type II, 2017). A
lung transplant, cord blood transplant, or bone marrow implant can be used to treat bare
lymphocyte syndrome type II (Bare Lymphocyte Syndrome Type II, 2017).

Picture:
Title: Image Showing a Patient with Novel Variants in CIITA Caused by Type II Bare
Lymphocyte Syndrome (Zhang et al., 2021)

Complement Deficiency:

Complement deficiencies are primary immunodeficiencies which can result in a variety of

clinical situations based on the particular complement protein that is lacking (Mollah & Tam,
2023). This may include a heightened vulnerability to various infectious agents, in addition to
thrombotic and localized inflammatory and systemic disorders (Mollah & Tam, 2023). The
complement system, which is an essential component of the innate humoral immune system, is
made up of a collection of proteins that function through three distinct routes to contribute to
host defense and the inflammatory response (Mollah & Tam, 2023). These three pathways are the
lectin pathway (LP), the alternative pathway (AP), and the classical pathway (CP) (Mollah &
Tam, 2023). Patients may experience recurrent infections and inappropriate immune responses if
there is a shortage in any of the proteins, complements, or factors. Usually, complement deficits
run in families; hereditary in nature (Mollah & Tam, 2023). Autosomal recessive forms, which
include defects in mannan-binding lectin and C1, C2, C3, C4, C5, C6, C7, C8, and C9, are the
most prevalent variety (Mollah & Tam, 2023). Complement overconsumption, dysfunctional
protein synthesis, diseases involving protein loss, autoimmunity, and high catabolic states are
further causes of acquired complement deficiencies (Mollah & Tam, 2023). Complement protein
supplementation is not commonly used to treat complement insufficiency because of the risk of
acquiring antibodies to exogenous complement proteins, the infeasibility of excessively frequent
infusions, and the possibility of bloodborne infections (Mollah & Tam, 2023). Each session of
infection is treated individually with antibiotics, and routine visits to their immunologist are part
of the management of this condition (Mollah & Tam, 2023).

Example:

An example of a complement deficiency is hereditary angioedema. An autosomal dominant

condition called hereditary angioedema (HAE) is brought on by a malfunctioning or absent C1-
inhibitor protein (Abdulkarim & Craig, 2023). A member of the serpin superfamily, the C1
inhibitor is a broad-spectrum serine protease inhibitor (Abdulkarim & Craig, 2023). The contact
system proteases (plasma kallikrein and activated Hageman factor (coagulation factors XIIa and
XIIf), fibrinolytic protease plasmin, and the coagulation protease factor XIa) as well as a number
of complement proteases (C1r, C1s, MASP-1, and MASP-2) are inhibited by it (Abdulkarim &
Craig, 2023). SERPING1 gene mutations cause C1 inhibitor deficiency (Abdulkarim & Craig,
2023). Hereditary angioedema is rare; however, it is linked to sporadic instances of edema
development, which can be fatal (Frank, 2023). Asphyxiation can occur from laryngeal edema;
unneeded surgery and diagnostic delays can arise from abdominal angioedema events;
excruciating pain can cause narcotic dependence; and cutaneous attacks can be debilitating and
disfiguring (Frank, 2023). Overt, non-inflammatory swelling of the skin and mucous membranes
is one of the physical symptoms of HAE (Frank, 2023). The three types of HAE can be
distinguished with complement testing and, in the case of HAE with normal C1 inhibitor levels,
genetic testing (Frank, 2023). Abdominal radiography, chest radiography, abdominal
ultrasonography, or computed tomography scanning are imaging studies that can be used in the
diagnosis of HAE (Frank, 2023). Agents used in the treatment of acute attacks of HAE include
C1-INH concentrate, Kallikrein inhibitor, and Selective bradykinin B2 receptor antagonist
(Frank, 2023).

Picture:
Title: Image Showing the Before and After of a Person that is Affected by Hereditary
Angioedema (HAE Symptoms, n.d.)

Treatments for Immunodeficiency diseases:

An active and fulfilling life is possible for those who suffer from immunological deficiencies, in
order to help restore or keep control of one’s life, immunological deficiencies are treated
(Galant-Swafford, 2022). Immunoglobulin replacement therapy, thymus transplantation,
specialized immune globulins, vaccines, hematopoietic cell transplantation, gene therapy,
enzyme replacement therapy, biologics, and antimicrobial therapy are among the medications
and treatments used to treat immunological deficiencies (Galant-Swafford, 2022).

Antimicrobial Therapy

Antimicrobials are drugs that combat bacterial or fungal illnesses; examples of these include
antibiotics and antifungals (Galant-Swafford, 2022). To ascertain whether a pathogen, bacteria,
virus, or fungus is present and to identify it, medical professionals may carry out additional tests,
such as imaging (X-ray or CT scan) or acquire cultures from the diseased area (Galant-Swafford,
2022). Antimicrobial therapy is another application for infection prevention (Galant-Swafford,
2022). Treatment for all types of immunodeficiency must include antimicrobial therapy (Paris &
Wall, 2022). Antimicrobial prophylaxis regimens based on the known risk for infection are
typically necessary for severe forms of immunodeficiency (Paris & Wall, 2022). Infections with
organisms that commonly afflict people with antibody deficiency can also be avoided with
antimicrobial prophylaxis (Paris & Wall, 2022). A clinical response to antimicrobial prophylaxis
can be used in certain situations of moderate hypogammaglobulinemia or other illnesses with a
lower risk of invasive infection, hence avoiding the requirement for IgG replacement (Paris &
Wall, 2022). On the other hand, a patient's unique risk for infection may be more accurately
determined if they do not respond to preventive measures and require IgG replacement (Paris &
Wall, 2022).

Immune Globulin Replacement Therapy

Immunoglobulin replacement treatment may be beneficial for those who do not create sufficient
numbers of functional antibodies or immune globulins (Galant-Swafford, 2022).
Immunoglobulins come in four main varieties: IgG, IgA, IgM, and IgE (Galant-Swafford, 2022).
IgG in the blood is replaced by gamma globulin, which is an antibody replacement (Galant-
Swafford, 2022). This can be administered subcutaneously (SCIG) or intravenously (IVIG)
(Galant-Swafford, 2022). IgA and IgM's protective roles are not replaced by supplemental IgG
therapy (IVIG or SCIG), as these antibodies are present in trace amounts (Galant-Swafford,
2022). Even with additional IgG therapy, people with immunological deficits may still
experience difficulties with specific infections (Galant-Swafford, 2022). However, by avoiding
the most common infections, treatment with supplemented IgG and early infection management
let many people with immunological deficits lead active and fulfilling lives (Galant-Swafford,
2022). Most persons have received vaccinations against these illnesses (Galant-Swafford, 2022).
Immunoglobulin replacement therapy may be used in lieu of vaccinations since individuals with
immunological deficits may not develop robust protective immune responses (Galant-Swafford,
2022).

Specific Immune Globulins

Certain immunocompromised individuals may benefit from the use of pathogen-specific immune
globulins as a preventative measure against potentially fatal infections caused by the offending
pathogen (Galant-Swafford, 2022). For instance, high-risk populations can be protected from
respiratory syncytial virus (RSV) infection by receiving monoclonal antibody treatment (Galant-
Swafford, 2022). Additional instances include the use of certain IgG to offer defense against
botulis, rabies, or Hepatitis B (Galant-Swafford, 2022).

Hematopoietic Stem Cell Transplantation

A bone marrow transplant, or allogeneic hematopoietic stem cell transplant, often known as an
allogeneic BMT, may be the best course of treatment when primary immunodeficiency poses a
considerable risk of damage or death (Paris & Wall, 2022). Red blood cells from a donor are
used in this procedure (Paris & Wall, 2022). Patients suffering from sickle cell disease (SCID)
receive infusions of donor hematopoietic stem cells (Paris & Wall, 2022). Over time, the patient's
immune system is developed by these cells growing in number (Paris & Wall, 2022).

Thymus transplantation
The thymus gland is an organ situated in front of the heart in the upper chest is called (Walsh,
n.d.). The healthy growth of T-cells, a subset of white blood cells, depends on the thymus gland
(Walsh, n.d.). Donated thymus tissue is used in transplant procedures (Walsh, n.d.). Some
thymus tissue must frequently be removed during surgery on newborns with significant cardiac
abnormalities; this tissue can be donated, cultured in a lab, and subsequently implanted (Walsh,
n.d.). Children who have thymus transplants receive fresh, healthy donor thymus tissue that can
develop in their bodies without risk (Walsh, n.d.). This implies that the child's stem cells
can move from the bone marrow to the newly formed thymus tissue, where they will spend time
maturing into T cells, picking up new skills, and learning how to interact with other immune
cells (Walsh, n.d.). With time, functional T-cells are generated, enabling the child's immune
system to once again combat invasive pathogens (Walsh, n.d.).
Gene Therapy
Gene therapy is a cutting-edge treatment for Primary Immune Deficiencies (PIDs) that involves
the autologous transplantation of hematopoietic stem cells that have had the gene responsible for
the PID added to or altered (Kohn & Kohn, 2021). In gene therapy, patients with PI serve as both
donors and recipients in a procedure akin to hematopoietic stem cell transplantation (HSCT):
their own hematopoietic stem cells are extracted, the PI-causing gene variant is either fixed or a
functional copy of the gene is added to the stem cells, and the patient receives an intravenous
infusion of the modified stem cells (Kohn & Kohn, 2021).
Conclusion:
It can be concluded that the immune system helps the host eliminate toxic or allergenic
substances that enter through mucosal surfaces by recognizing non-self-antigens, organizing a
coordinated response to them, and assisting in their elimination. However, the immune system
constantly eliminates diseased, damaged, or dead cells from the body as part of its function to
preserve health, if this occurs immunodeficiency symptoms may appear. The failure to produce a
sufficient immune response due to insufficient or nonexistent antibodies is known as
immunodeficiency. Immune system disorders can affect any part of the immune system. Most
often, the aberrant function of T lymphocytes, B lymphocytes, or combined T and B
lymphocytes, or the body's insufficient synthesis of antibodies, cause these illnesses.
Immunodeficiencies are divided into two categories: primary and secondary. Primary
immunodeficiencies are genetically based immunodeficiencies that can occur on their own or in
combination with other immunological and nonimmune illnesses. Secondary immunodeficiency
may develop in hospitalized, elderly, or seriously ill patients. There are many different reasons
why someone may have immunodeficiency; depending on the illness, the cause may be inherited
or acquired through malnourishment and unsanitary conditions. Defective phagocytes lead to a
phagocytic deficit, which impairs their ability to operate. A humoral deficiency results due to
defective B cells and its inheritance is unknown. Unlike humoral deficiency, cell-mediated
deficiency results from malfunctioning T cells; yet, due to the interdependence of the B-cell and
T-cell immune systems, there is some relationship between the two abnormalities. T
lymphocytes are likewise impacted by combined insufficiency, but their capacity to generate
antibodies is compromised. Finally, there are a number of ways in which complement deficit
might result in faulty complement. Consequently, all of these inadequacies lead to various
diseases or disorders or make the body vulnerable to infections.

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