agammaglobulinemia


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agammaglobulinemia

 [a″gam-ah-glob″u-lin-e´me-ah]
absence or severe deficiency of the plasma protein gamma globulin. There are three main types: transient, congenital, and acquired. The transient type occurs in early infancy, because gamma globulins are not produced in the fetus and the gamma globulins derived from the maternal blood are soon depleted. This temporary deficiency of gamma globulin lasts for the first 6 to 8 weeks, until the infant begins to synthesize the protein. Congenital agammaglobulinemia is a rare condition, occurring in males, and resulting in decreased or absent production of antibodies. Acquired agammaglobulinemia is secondary to other disorders and is usually a hypogammaglobulinemia, that is, a deficiency rather than total absence of this plasma protein. It is often secondary to malignant diseases such as leukemia, myeloma, and lymphoma, and to diseases associated with hypoproteinemia such as nephrosis and liver disease. Some patients have a family history of rheumatoid arthritis or allergies. This seems to indicate the presence of genetic factors in the development of agammaglobulinemia.
Symptoms. Because gamma globulin is so important in the production of antibodies and thus in the body's ability to defend itself against infection, it follows that a deficiency or absence of gamma globulin would result in severe and recurrent infections. The infections are usually bacterial rather than viral in origin and are extremely difficult to eliminate. The condition is often complicated by local damage to tissues because of scarring and repeated infection. Disorders of connective tissue such as scleroderma, arthritis, and lupus erythematosus are also frequent complications.
Treatment. Replacement therapy with human gamma globulin is effective in preventing severe infections. The aim is to maintain the gamma globulin level above 150 mg per 100 mL of blood. The optimal dose is determined by the patient's response. Antibiotics are also given and are continued until all signs of infection have disappeared. The prevention and management of infections requires close collaboration between all members of the health care team. The administration of live vaccines is contraindicated.
common variable agammaglobulinemia common variable immunodeficiency.
X-linked agammaglobulinemia a primary X-linked immunodeficiency disorder characterized by absence of circulating B lymphocytes, plasma cells, or germinal centers in lymphoid tissues, very low levels of circulating immunoglobulins, susceptibility to bacterial infection, and symptoms resembling rheumatoid arthritis. Pre-B cells apparently fail to differentiate into mature B cells, express surface immunoglobulins, and produce antibody.

a·gam·ma·glob·u·lin·e·mi·a

(ā-gam'ă-glob'yū-li-nē'mē-ă),
Absence of, or extremely low levels of, the gamma fraction of serum globulin; sometimes used loosely to denote absence of immunoglobulins in general.
See also: hypogammaglobulinemia.

agammaglobulinemia

/agam·ma·glob·u·lin·emia/ (a-gam″ah-glob″u-lĭ-ne´me-ah) absence of all classes of immunoglobulins in the blood. See also hypogammaglobulinemia.
X-linked agammaglobulinemia  an X-linked disorder characterized by absence of circulating B lymphocytes, plasma cells, or germinal centers in lymphoid tissues, very low levels of circulating immunoglobulins, susceptibility to bacterial infection, and symptoms resembling rheumatoid arthritis; apparently due to failure of pre-B cells to differentiate into mature B cells.

agammaglobulinemia

(ā-găm′ə-glŏb′yə-lə-nē′mē-ə)
n.
A congenital or acquired deficiency of gamma globulins in the blood.

agammaglobulinemia

[agam′əglob′yo̅o̅linē′mē·ə]
Etymology: Gk a + gamma, not gamma (third letter of Greek alphabet); L, globulus, small sphere; Gk, haima, blood
the absence of gamma globulin from the serum, associated with an increased susceptibility to infection. The condition may be transient, congenital, or acquired. The transient form is common in infancy before 6 weeks of age, when the infant becomes able to synthesize the immunoglobulin. The congenital form is rare and sex-linked, affecting male children; it results in decreased production of antibodies. The acquired form usually occurs in malignant diseases such as leukemia, myeloma, or lymphoma. Also spelled agammaglobulinaemia. See also Bruton's agammaglobulinemia, immune gamma globulin.

Agammaglobulinemia

A rare condition characterised by an absence of antibodies due to an inability to produce immunoglobulins, which may be acquired or inherited as a genetic disease.
Types
(1) X-linked agammaglobulinemia [MIM 300300], Bruton's disease.
(2) Autosomal recessive agammaglobulinemia [MIM 202500].
(3) X-linked severe combined immundeficiency syndrome [MIM 300400].

agammaglobulinemia

a·gam·ma·glob·u·lin·e·mi·a

(ā-gam'ă-glob'yū-li-nē'mē-ă)
Absence of, or extremely low levels of, the gamma fraction of serum globulin; sometimes used loosely to denote absence of immunoglobulins in general.
See also: hypogammaglobulinemia
Synonym(s): agammaglobulinaemia.

Agammaglobulinemia

The lack of gamma globulins in the blood. Antibodies are the main gamma globulins of interest, so this term means a lack of antibodies.
Mentioned in: Immunodeficiency

agammaglobulinemia (āˈ·gaˈ·m·glˈ·by·l·nēˑ·mē·),

n condition in which the serum immunoglobulin gamma globulin is absent, thus increasing risk of infection. Can be fleeting, hereditary, or acquired.

agammaglobulinemia

severe or complete deficiency of immunoglobulins (antibodies) in the blood. Due to reliance on colostral versus placental transfer of immunoglobulins most domestic animals are agammaglobulinemic at birth, prior to suckling. An inherited defect is not commonly recorded in animals, but does occur as a primary inherited condition and as part of a combined immune deficiency, both of them in horses. The deficiency or absence of antibodies results in severe and recurrent infections. See also hypogammaglobulinemia, combined immune deficiency syndrome (disease).

Bruton's agammaglobulinemia
an inherited, X-linked recessive condition in humans involving a deficiency of B lymphocytes and plasma cells. A similar condition, though less well characterized, has been recognized in horses.
References in periodicals archive ?
Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA).
Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia.
He was also found to have Brutons agammaglobulinemia, a rare genetic disorder which had made him susceptible to the polio that is in the oral vaccine.
The classical example is X-linked agammaglobulinemia, in which disease-causing variants in the gene (BTK, Bruton agammaglobulinemia tyrosine kinase) coding for Bruton's tyrosine kinase lead to arrest of B-cell development at the pre-B-cell stage (2).
A 16-year-old came in and said, "My brother has X-linked agammaglobulinemia.
All our patients had B cell positive agammaglobulinemia and absence of underlying conditions to explain the low antibody production, so the diagnosis of CVI was uniformly established.
And of course you'll want further evaluation in a child with a family history for one of the genetically defined immunodeficiencies, such as Bruton's agammaglobulinemia or x-linked lymphoproliferative disease.
Deficiency of the complement component, C3, leads to repeated sinopulmonary infections similar to agammaglobulinemia, while deficiencies in the terminal complement components (C6, C7, C8, C9) result in recurrent systemic infections or meningitis with neisserial organisms.
One patient with X-linked agammaglobulinemia (XLA) was enrolled in our study; this patient had a previous record of VDPV2 excretion detected by acute flaccid paralysis (AFP) surveillance by the National Polio Surveillance Program (NPSP, WHO) being conducted at our center.
A boy aged 5 months with X-linked agammaglobulinemia, who first received OPV in March 2014 and developed paralysis in June 2014, his iVDPV3 infection cleared after September 2014.
Congenital immune deficiencies including complement deficiencies, phagocyte dysfunctions, cell receptor and signal transmission disorders, X-linked agammaglobulinemia which leads to antibody production failure, variable immune deficiencies, severe combined immune deficiency syndrome, complete Di George syndrome, Wiskott-Aldrich syndrome, adaptive immune deficiencies including ataxia-telangiectasia are very important causes of infections, morbidities and mortality.