Humoral immune deficiencies are conditions which cause impairment of

humoral immunity Humoral immunity is the aspect of immunity that is mediated by macromolecules - including secreted antibodies, complement proteins, and certain antimicrobial peptides - located in extracellular fluids. Humoral immunity is named so because it in ...

, which can lead to

immunodeficiency Immunodeficiency, also known as immunocompromisation, is a state in which the immune system's ability to fight infectious diseases and cancer is compromised or entirely absent. Most cases are acquired ("secondary") due to extrinsic factors that a ...

. It can be mediated by insufficient number or function of

B cell B cells, also known as B lymphocytes, are a type of white blood cell of the lymphocyte subtype. They function in the humoral immunity component of the adaptive immune system. B cells produce antibody molecules which may be either secreted or ...

s, the

plasma cell Plasma cells, also called plasma B cells or effector B cells, are white blood cells that originate in the lymphoid organs as B lymphocytes and secrete large quantities of proteins called antibodies in response to being presented specific substan ...

s they differentiate into, or the

antibody An antibody (Ab), also known as an immunoglobulin (Ig), is a large, Y-shaped protein used by the immune system to identify and neutralize foreign objects such as pathogenic bacteria and viruses. The antibody recognizes a unique molecule of the ...

secreted by the plasma cells. The most common such immunodeficiency is inherited selective IgA deficiency, occurring between 1 in 100 and 1 in 1000 persons, depending on population. They are associated with increased vulnerability to infection, but can be difficult to detect (or asymptomatic) in the absence of infection.

Signs and symptoms

Signs/symptoms of humoral immune deficiency depend on the cause, but generally include signs of infection such as: *

Sinusitis Sinusitis, also known as rhinosinusitis, is inflammation of the nasal mucosa, mucous membranes that line the paranasal sinuses, sinuses resulting in symptoms that may include thick Mucus#Respiratory system, nasal mucus, a nasal congestion, plugg ...

Sepsis Sepsis, formerly known as septicemia (septicaemia in British English) or blood poisoning, is a life-threatening condition that arises when the body's response to infection causes injury to its own tissues and organs. This initial stage is follo ...

Skin infection A skin infection is an infection of the skin in humans and other animals, that can also affect the associated soft tissues such as loose connective tissue and mucous membranes. They comprise a category of infections termed skin and skin structure ...

Pneumonia Pneumonia is an inflammatory condition of the lung primarily affecting the small air sacs known as alveoli. Symptoms typically include some combination of productive or dry cough, chest pain, fever, and difficulty breathing. The severity ...

Causes

Cause of this deficiency is divided into ''primary'' and ''secondary'': * ''Primary'' the

International Union of Immunological Societies The International Union of Immunological Societies (IUIS), a member of the International Council for Science, is an organization which serves as an umbrella organization for many national and regionally grouped immunological societies. The organi ...

classifies

primary immune deficiencies Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function normally. To be considered a ''primary'' immunodeficiency (PID), the cause of the immune deficiency must not be secondary in nature ...

of the humoral system as follows: 170 px, Hyper-IgM syndromes(immunoglobulin M) :* Absent B cells with a resultant severe reduction of all types of antibody:

X-linked agammaglobulinemia X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight infection. As the form of agammaglobulinemia that is X-linked, it is much more common in males. In people with XLA, the lymphop ...

( btk deficiency, or

Bruton Bruton ( ) is a market town, electoral ward, and civil parish in Somerset, England, on the River Brue and the A359 between Frome and Yeovil. It is 7 miles (11 km) south-east of Shepton Mallet, just south of Snakelake Hill and Coombe Hill, 10 ...

's agammaglobulinemia), μ- Heavy chain deficiency, l 5 deficiency, Igα deficiency, BLNK deficiency,

thymoma with immunodeficiency Thymoma with immunodeficiency (also known as "Good syndrome") is a rare disorder that occurs in adults in whom hypogammaglobulinemia, deficient cell-mediated immunity, and thymoma (usually benign) may develop almost simultaneously. Most reported ...

:* B cells low but present, but with reduction in 2 or more isotypes (usually IgG & IgA, sometimes IgM):

common variable immunodeficiency Common variable immunodeficiency (CVID) is an immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM and IgA. Symptoms generally include high susceptibility to foreign i ...

(CVID),

ICOS Icos Corporation (trademark ICOS) was an American biotechnology company and the largest biotechnology company in the U.S. state of Washington, before it was sold to Eli Lilly and Company in 2007. It was founded in 1989 by David Blech, Isaac ...

deficiency,

CD19 B-lymphocyte antigen CD19, also known as CD19 molecule ( Cluster of Differentiation 19), B-Lymphocyte Surface Antigen B4, T-Cell Surface Antigen Leu-12 and CVID3 is a transmembrane protein that in humans is encoded by the gene ''CD19''. In humans, ...

deficiency, TACI (TNFRSF13B) deficiency, BAFF receptor deficiency. :* Normal numbers of B cells with decreased

IgG Immunoglobulin G (Ig G) is a type of antibody. Representing approximately 75% of serum antibodies in humans, IgG is the most common type of antibody found in blood circulation. IgG molecules are created and released by plasma B cells. Each IgG ...

and IgA and increased

IgM Immunoglobulin M (IgM) is one of several isotypes of antibody (also known as immunoglobulin) that are produced by vertebrates. IgM is the largest antibody, and it is the first antibody to appear in the response to initial exposure to an antig ...

Hyper-IgM syndromes Hyper IgM syndrome describes a group of primary immune deficiency disorders characterized by defective CD40 signaling; ''via'' B cells affecting class switch recombination (CSR) and somatic hypermutation. Immunoglobulin (Ig) class switch rec ...

:* Normal numbers of B cells with isotype or light chain deficiencies: heavy chain deletions, kappa chain deficiency, isolated IgG subclass deficiency, IgA with IgG subsclass deficiency,

selective immunoglobulin A deficiency Selective immunoglobulin A (IgA) deficiency (SIgAD) is a genetic immunodeficiency, a type of hypogammaglobulinemia. People with this deficiency lack immunoglobulin A (IgA), a type of antibody that protects against infections of the mucous membran ...

Transient hypogammaglobulinemia of infancy Transient hypogammaglobulinemia of infancy is a form of hypogammaglobulinemia appearing after birth, leading to a reduction in the level of IgG, and also sometimes IgA and IgM. (The ratios of immunoglobulins vary rapidly in all infants, and the t ...

(THI) * ''Secondary'' secondary (or acquired) forms of humoral immune deficiency are mainly due to hematopoietic malignancies and infections that disrupt the immune system:Page 432
Chapter 22, Table 22.1 in: :*

Multiple myeloma Multiple myeloma (MM), also known as plasma cell myeloma and simply myeloma, is a cancer of plasma cells, a type of white blood cell that normally produces antibodies. Often, no symptoms are noticed initially. As it progresses, bone pain, an ...

:* Chronic lymphoid leukemia :*

AIDS Human immunodeficiency virus infection and acquired immunodeficiency syndrome (HIV/AIDS) is a spectrum of conditions caused by infection with the human immunodeficiency virus (HIV), a retrovirus. Following initial infection an individual m ...

Diagnosis

In terms of diagnosis of ''humoral immune deficiency'' depends upon the following: * Measure ''serum immunoglobulin levels'' *

count * Family

medical history The medical history, case history, or anamnesis (from Greek: ἀνά, ''aná'', "open", and μνήσις, ''mnesis'', "memory") of a patient is information gained by a physician by asking specific questions, either to the patient or to other peo ...

Treatment

Treatment for ''B cell deficiency'' (humoral immune deficiency) depends on the cause, however generally the following applies: * Treatment of

infection An infection is the invasion of tissues by pathogens, their multiplication, and the reaction of host tissues to the infectious agent and the toxins they produce. An infectious disease, also known as a transmissible disease or communicable dise ...

(antibiotics) * Surveillance for

malignancies Malignancy () is the tendency of a medical condition to become progressively worse. Malignancy is most familiar as a characterization of cancer. A ''malignant'' tumor contrasts with a non-cancerous ''benign'' tumor in that a malignancy is not s ...

Immunoglobulin An antibody (Ab), also known as an immunoglobulin (Ig), is a large, Y-shaped protein used by the immune system to identify and neutralize foreign objects such as pathogenic bacteria and viruses. The antibody recognizes a unique molecule of the ...

replacement therapy

References

External links

PubMed
{{Medicine Predominantly antibody deficiencies