X-linked agammaglobulinemia pathophysiology: Difference between revisions
| Line 7: | Line 7: | ||
The gene Bruton's tyrosine kinase (Btk) plays an essential role in the maturation [[B cell]]s in the [[bone marrow]], and when mutated, immature pre-B lymphocytes are unable to develop into mature B cells that leave the bone marrow into the blood stream. The disorder is X-linked (it is on the [[X chromosome]]), and is almost entirely limited to the sons of [[asymptomatic]] female [[asymptomatic carrier|carrier]]s .<ref name= IDF>[http://www.immunedisease.com/US/patients/IDF/agamma.html X-Linked Agammaglobulinemia] Patient and Family Handbook for The Primary Immune Diseases. Third Edition. 2001. Published by the Immune Deficiency Foundation</ref> This is because males have only one copy of the X chromosome, while females have two copies; one normal copy of an X chromosome can compensate in for mutations in the other X chromosome. Females carriers have a 50% chance of giving birth to a male child with XLA. | The gene Bruton's tyrosine kinase (Btk) plays an essential role in the maturation [[B cell]]s in the [[bone marrow]], and when mutated, immature pre-B lymphocytes are unable to develop into mature B cells that leave the bone marrow into the blood stream. The disorder is X-linked (it is on the [[X chromosome]]), and is almost entirely limited to the sons of [[asymptomatic]] female [[asymptomatic carrier|carrier]]s .<ref name= IDF>[http://www.immunedisease.com/US/patients/IDF/agamma.html X-Linked Agammaglobulinemia] Patient and Family Handbook for The Primary Immune Diseases. Third Edition. 2001. Published by the Immune Deficiency Foundation</ref> This is because males have only one copy of the X chromosome, while females have two copies; one normal copy of an X chromosome can compensate in for mutations in the other X chromosome. Females carriers have a 50% chance of giving birth to a male child with XLA. | ||
An XLA patient will pass on the gene, and all of his daughters will be XLA carriers, meaning that any male grandchildren from an XLA patient's daughters have a 50% chance of inheriting XLA. A female XLA patient can only arise as the child of an XLA patient and a carrier mother. XLA can also rarely result from a spontaneous mutation in the [[fetus]] of a non-carrier mother. | An XLA patient will pass on the gene, and all of his daughters will be XLA carriers, meaning that any male grandchildren from an XLA patient's daughters have a 50% chance of inheriting XLA. A female XLA patient can only arise as the child of an XLA patient and a carrier mother. XLA can also rarely result from a spontaneous mutation in the [[fetus]] of a non-carrier mother. | ||
Agammaglobulinemia (XLA) is similar to the primary immunodeficiency disorder Hypogammaglobulinemia (CVID), and their clinical conditions and treatment are almost identical. However, while XLA is a congenital disorder, with known genetic causes, CVID may occur in adulthood and its causes are not yet understood. | |||
XLA was also historically mistaken as Severe Combined Immunodeficiency (SCID), a much more severe immune deficiency ("Bubble boys"). | |||
A strain of laboratory mouse, XID, is used to study XLA. These mice have a mutated version of the mouse Btk gene, and exhibit a similar, yet milder, immune deficiency as in XLA. | |||
{| align="left" style="border: 1px solid {{{border|gray}}}; background-color: {{{color|#fdffe7}}};" | {| align="left" style="border: 1px solid {{{border|gray}}}; background-color: {{{color|#fdffe7}}};" | ||
Revision as of 17:50, 21 September 2012
|
X-linked agammaglobulinemia Microchapters |
|
Differentiating X-linked agammaglobulinemia from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
X-linked agammaglobulinemia pathophysiology On the Web |
|
American Roentgen Ray Society Images of X-linked agammaglobulinemia pathophysiology |
|
Directions to Hospitals Treating X-linked agammaglobulinemia |
|
Risk calculators and risk factors for X-linked agammaglobulinemia pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
Genetics
The gene Bruton's tyrosine kinase (Btk) plays an essential role in the maturation B cells in the bone marrow, and when mutated, immature pre-B lymphocytes are unable to develop into mature B cells that leave the bone marrow into the blood stream. The disorder is X-linked (it is on the X chromosome), and is almost entirely limited to the sons of asymptomatic female carriers .[1] This is because males have only one copy of the X chromosome, while females have two copies; one normal copy of an X chromosome can compensate in for mutations in the other X chromosome. Females carriers have a 50% chance of giving birth to a male child with XLA.
An XLA patient will pass on the gene, and all of his daughters will be XLA carriers, meaning that any male grandchildren from an XLA patient's daughters have a 50% chance of inheriting XLA. A female XLA patient can only arise as the child of an XLA patient and a carrier mother. XLA can also rarely result from a spontaneous mutation in the fetus of a non-carrier mother. Agammaglobulinemia (XLA) is similar to the primary immunodeficiency disorder Hypogammaglobulinemia (CVID), and their clinical conditions and treatment are almost identical. However, while XLA is a congenital disorder, with known genetic causes, CVID may occur in adulthood and its causes are not yet understood.
XLA was also historically mistaken as Severe Combined Immunodeficiency (SCID), a much more severe immune deficiency ("Bubble boys").
A strain of laboratory mouse, XID, is used to study XLA. These mice have a mutated version of the mouse Btk gene, and exhibit a similar, yet milder, immune deficiency as in XLA.
|
|
References
- ↑ X-Linked Agammaglobulinemia Patient and Family Handbook for The Primary Immune Diseases. Third Edition. 2001. Published by the Immune Deficiency Foundation