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8ruIcn': Di:ec:e
X-Linked Agammaglobulinemia
%0 basic d010ct in X-Link0d AgammagIobuIin0mia is a
1aiIur0 o1 B-Iympocyt0 pr0cursors to matur0 into B-
Iympocyt0s and uItimat0Iy pIasma c0IIs. Sinc0 t0y Iack
t0 c0IIs tat ar0 r0sponsibI0 1or producing
immunogIobuIins.
Bruton's aggamaglobulinemia or X-linked aggammaglobulinemia (XLA) is
present at birth (congenital) and is characterized by low or completely
absent levels of immunoglobulins in the bloodstream. mmunoglobulins are
protein molecules in blood serum that function like antibodies. Without
them, the body lacks a fully functioning immune system. Persons with XLA
are vulnerable to repeated, potentially fatal bacterial infections.
XLA is caused by a defect in the gene that codes for Btk. This defect leads
to blocked maturation of B cells, the cells that produce immunoglobulins.
Because other portions of the immune system is functional, people with
XLA can fight off some types of infection, such as fungal and most viral
DefiniIicn cf Ierm:
B lymphocyte - a lymphocyte derived Irom bone marrow that provides humoral immunity; it
recognizes Iree antigen molecules in solution and matures into plasma cells that secrete
immunoglobulin (antibodies) that inactivate the antigens
precursor cell -a population oI cells in the bone marrow that are incapable oI selI-renewal; they are
derived Irom progenitor cells and are the Iirst cells oI a particular blood cell line that can be recognized
due to their speciIic morphologic characteristics (e.g., proerythroblast).
B-Lymphoid Precursor Cells - Lymphocyte progenitor cells that are restricted in their diIIerentiation
potential to the B lymphocyte lineage. The pro-B cell stage oI B LYMPHOCYTE development precedes
the pre-B cell stage;Cells Irom the stage oI B LYMPHOCYTE development where B CELL HEAVY
CHAIN GENE REARRANGEMENT is completed. The pre-B cell stage is preceded by the pro-B cell
stage;Cells Irom the stage oI B LYMPHOCYTE development where B-CELL GENE
REARRANGEMENT begins. The pro-B cell stage is Iollowed by the pre-B cell stage.
Btk-Bruton's agammaglobulinemia tyrosine kinase (Btk) - is a
cytoplasmic tyrosine kinase important in B-lymphocyte development,
diIIerentiation, and signaling. Btk is a member oI the Tec Iamily oI
kinases. Mutations in the Btk gene lead to X-linked
agammaglobulinemia (XLA) in humans and X-linked
immunodeIiciency (Xid) in mice.
!atopysioIogy
n Ihe cL:ence cf 8IK, 8 |ymphccyIe: cc ncI cifferenIicIe cr mcIure. WiIhcuI mcIure 8
|ymphccyIe:, cnIiLccy-prccucing p|c:mc ce||: cre c|:c cL:enI. /: c ccn:euence,
Ihe reIicu|cenccIhe|ic| cnc |ymphcic crgcn: in which Ihe:e ce||: prc|ifercIe,
cifferenIicIe, cnc cre :Icrec cre pccr|y ceve|cpec. Ihe :p|een, Ihe Icn:i|:, Ihe
ccencic:, Ihe Feyer pcIche: in Ihe inIe:Iine:, cnc Ihe peripherc| |ymph ncce: mcy c||
Le recucec in :ize cr cL:enI in incivicuc|: wiIh X-|inkec cgcmmcg|cLu|inemic {XL/).
ereciIy FcIIern cf 8ruIcn: Di:ec:e
8cne mcrrcw
F|uripcIenIic| SIem Ce||
Lymphcic SIem
Ce||
FremcIure 8 ce||
McIure 8 ce||
(cc:ent}
8|utcn': y|c:|ne
k|nc:e enzyne
(8tk}
8ruIcn: Di:ec:e
X-Linkec /gcmmcg|cLu|inemic
Mlsslng or uefecLlve 8Lk
Loss of maLernal anLlbodles
(CaLabollzed lCg)
uefecL ln x chromosome
(x?)
uecrease lvel of lg (low or
absenL serum lg)
8locked maLuraLlon of 8 cells
lncrease suscepLlblllLy
8ruton's D|sease
8lsk for lnfecLlon 8lsk for lnfecLlon
lnfuslon of
lmmunoglobulln
lnfuslon of
lmmunoglobulln
Chorlonlc vllll
sampllng
AmnlocenLesls
D|agnost|c 1ests
Nurs|ng D|agnos|s Nurs|ng D|agnos|s
Med|cat|ons Med|cat|ons
S|gns]Symptoms
D|agnos|s
athogenes|s
$tem cell transplantation
Ccmp|iccIicn:
8ruton's D|sease
ar lnfecLlon ar lnfecLlon
CLlLls Medla CLlLls Medla
Slnus lnfecLlon Slnus lnfecLlon
MenlnglLls MenlnglLls
Skln lnfecLlon Skln lnfecLlon
8ronchlLls 8ronchlLls
SepLlcemla SepLlcemla
lneffecLlve
Alrway Clearance
lneffecLlve
Alrway Clearance
8lsk for Spread
of lnfecLlon
8lsk for Spread
of lnfecLlon
AcuLe aln AcuLe aln
8lsk for lmpalred
Skln lnLegrlLy
8lsk for lmpalred
Skln lnLegrlLy
ulsLurbed Sensory
ercepLlon audlLory
ulsLurbed Sensory
ercepLlon audlLory
lmpalred Cas
change
lmpalred Cas
change
lmpalred ComforL lmpalred ComforL
ulsLurbed Sensory
ercepLlon olfacLory
ulsLurbed Sensory
ercepLlon olfacLory
neumonla neumonla
iagnostic Test
Chorionic Villi sampling a procedure obtaining a prenatal evaluation data
early in a pregnancy by withdrawing a chorionic villi sample from fetal
membranes.
Amniocentesis an obstetric procedure in which a small amount of
amniotic fluid is removed for laboratory analysis. t is usually performed
between the sixteen and twentieth weeks of gestation to aid in the
diagnosis of fatal abnormalities.
Laboratory Studies
PerIorm initial studies measuring quantitative IgG, IgM, immunoglobulin E (IgE), and immunoglobulin
A (IgA) levels. IgG levels should be measured Iirst, preIerably aIter age 6 months, when maternal levels
decline. IgG levels below 100 mg/dL are usually indicative oI X-linked agammaglobulinemia (XLA).
The detection oI IgG, IgA, IgM, and IgE levels is related to age. Typically, IgM and IgA are
undetectable. All levels are reduced in males with XLA. Age-speciIic reIerence range values are
available to compare with the patient's level.
Once antibody levels are detected as abnormally low, conIirmation is attained by using Iluorocytometric
analysis oI B-lymphocyte and T-lymphocyte markers. CD19
and CD8