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Case 10

Immunology
by

Dilya Ibrasheva

on 21 April 2010

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Transcript of Case 10

Case 10: X-Linked Agammaglobulinemia

Question #6:
Why did Bill have no tonsils (they had not been removed surgically).
Why is this an important diagnostic clue for X-linked agammaglobulinemia?


Noah Cohen & Dilya Ibrasheva Tonsils


Lymphatic tissues on both sides of the throat
Unknown purpose in Immune System. Hypothesized to aid in combating upper respiratory illnesses, but unproven.
Most of the bulk of tonsils and lymph nodes is made up of B-lymphocytes
Bruton's tyrosine kinase (Btk)


found in pre-B cells, B cells, and neutrophils
activated at different stages of B-cell development by engagement of both the pre-B cell receptor and the B-cell receptor
required to mediate the survival and further differentiation of the progenitor B cells !!!
required for the survival of mature B cells !!!

A defect in btk gene causes XLA since non-functional or malfunctioning Btk protein is being produced Since tonsils are largely comprised of mature B-Cells, their absence suggests Bill has very low levels of mature B-Cells.

This is useful for diagnosing XLA because lack of tonsils means the patient has a low B-Cell count. Low B-Cell count (along with genetic lineage) is the main diagnostic criterion for XLA.

B Cell References:
1. Kanegane H, Futatani T, Wang Y, et al: Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier
identified by flow cytometric assessment combined with genetic analysis. J Allergy Clin Immunol 2001;108:1012-1020

2.. Kanegane H, Tsukada S, Iwata T, et al: Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinemic malesm registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry. Clin Exp Immunol 2000;120:512-517

3. Stewart DM, Tian L, Nelson DL: A case of X-linked agammaglobulinemia diagnosed in adulthood. Clin Immunol 2001;99(1):94-99

4. Futatani T, Miyawaki T, Tsukada S, et al: Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Blood 1998;91(2):595-602
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