Immunoglobulin D Deficiency

Background
Immunoglobulin D (IgD) deficiency is a defect of
humoral immunity that is characterized by
abnormally low serum levels of IgD
immunoglobulins. Little is known about the normal
function of IgD, and few clinical signs or
symptoms are associated with its absence.
Individuals with low or absent levels of IgD do not
appear unusually predisposed to infections.

Pathophysiology
Genetic rearrangements occur during the
maturation of B lymphocytes, eventually resulting
in the surface expression of both immunoglobulin
M (IgM) and IgD on mature B cells. Cell signaling
occurs through this surface IgD. IgD production by
B cells is stimulated by interleukin (IL)4 and IL-
10.[1]

The physiologic purpose of free serum IgD is not
well understood, though it may fine tune or
modulate humoral immune response.[2] In mice,
IgD may substitute for some functions of IgM
when IgM is absent. Studies in IgM-deficient IgM-
/- mice reveal that B cells with surface expression
of IgM were replaced by B cells with surface
expression of IgD. Immunization of IgM-/- mice
revealed an IgD immune response in place of the
now absent IgM response, although with a delayed
increase in antibody concentration as compared to
normal.[3] Recent studies have suggested that IgD-
only B cells may play a significant role in immune
responses to superantigens.[4] Investigations into
the evolutionary origins of IgD are also ongoing.[5,
6, 7, 8]

Low serum IgD levels are not distributed in a
normal gaussian fashion.[9, 10] IgD deficiency is
associated with the specific human leukocyte
antigens HLA-B18, F1C30, and DR3 in a Spanish
Basque population[11] and HLA-B8, SC01, DR3 in
white subjects in an American study.[12] A 2008
report noted that depletion of circulating IgD+
memory B cells occurs in pediatric HIV infection,
despite control of viral load with highly active anti-
retroviral therapy (HAART).[13]

Epidemiology
Frequency
Imunoglobulina D Deficienta

Fundal
Imunoglobulina D deficit (Ig D) este un defect al
imunitii umorale, care este caracterizat prin
anormal de nivelurile serice sczute de
imunoglobuline IgD. Putin se stie despre functia
normala a IgD, i puine semne sau simptome
clinice sunt asociate cu lipsa acesteia. Persoanele
cu un nivel scazut sau absent de IgD nu par
neobisnuit de predispus la infectii.

Fiziopatologie
Rearanjamente genetice apar n timpul maturrii
limfocitelor B, ajungnd n final n expresie
suprafaa att imunoglobulina M (IgM) i IgD pe
celulele B mature. Celule de semnalizare se
produce prin acest IgD suprafa. Producia IgD cu
celulele B este stimulat de interleukin (IL) -4 i
IL-10. [1]

Scopul fiziologic de ser IgD nu este bine inteles,
desi poate regla fin sau moduleaz rspuns imun
umoral. [2] La soareci, IgD se poate substitui
pentru anumite funcii ale IgM atunci cnd IgM
este absent. Studiile efectuate la IgM-deficit de
IgM-/ - soareci arata ca celulele B cu expresie
suprafata de IgM au fost nlocuite cu celule B, cu
expresie suprafata de IgD. Imunizare de IgM-/ -
oareci relevat un rspuns imun IgD n loc de acum
rspunsului IgM absente, dei cu o cretere
ntrziat n concentraie a anticorpilor fa de
normal [3] Studii recente au sugerat ca celulele
IgD-numai B pot juca un. rol important in
raspunsul imun la superantigens [4] Investigaiile n
originile evolutive ale IgD sunt, de asemenea, in
curs de desfasurare. [5, 6, 7, 8].

Nivelurile de IGD serice sczute nu sunt distribuite
ntr-o manier normal Gaussian. [9, 10] deficit de
Ig este asociat cu antigene leucocitare umane
specifice HLA-B18, F1C30, si DR3 ntr-o
populaie basc spaniol [11] i HLA-B8, SC01 ,
DR3 la subiectii albe ntr-un studiu american. [12]
Un raport din 2008 a remarcat c epuizarea circula
IgD + memorie celulele B apare in infectia cu HIV
la copii, n ciuda controlul incarcaturii virale cu
terapie antiretroviral foarte activ (HAART). [13]

Epidemiologie
Frecven
United States
One report indicates that approximately 11% of
371 American Red Cross blood donors and 6% of
1529 study subjects had low or undetectable IgD
levels (< 0.002 mg/mL). In the study group, a
number of the individuals with low IgD had
rheumatologic disease (eg, juvenile rheumatoid
arthritis, lupus, psoriatic arthritis, vasculitis), but
the frequency of low IgD within groups of patients
with each disease did not differ from the normal
controls using chi-square analysis.[10] In another
study, using a cutoff of 2.15 IU/mL, assays of 245
healthy adults and 301 healthy children revealed
that approximately 13% of each group had low
levels of IgD.[9]

Mortality/Morbidity
Low or undetectable levels of IgD, in the absence
of other concurrent disease or immune defects (eg,
common variable immunodeficiency, complement
deficiency), are not associated with morbidity or
increased mortality. Specifically, patients with low
or undetectable IgD levels do not demonstrate an
increased incidence of infections of any type.[14]

Sex
Overall levels of serum IgD are higher in males
than females,[15] but specific incidence of
abnormally low IgD is approximately equal
between the sexes.[9]

Age
Children younger than 3 years, both with and
without an immunodeficiency, appear to have an
increased prevalence of low IgD levels.[16, 17, 18]
After infancy, age is not associated with increased
prevalence of low IgD levels.
Statele Unite
Un raport arat c aproximativ 11% din 371 de
americani donatorilor de snge Crucii Rosii si 6%
din 1529 subiecti de studiu au avut niveluri IGD
sczute sau nedetectabile (<0,002 mg / ml). n
grupul de studiu, un numr de persoane cu IgD
sczut au avut boli reumatologice (de exemplu,
artrita juvenila reumatoida, lupus, artrita psoriazica,
vasculite), dar frecvena de IgD sczut n cadrul
grupurilor de pacienti cu fiecare boala nu au fost
diferite de la normal controale cu ajutorul analiz
chi-ptrat. [10] ntr-un alt studiu, folosind un cutoff
de 2,15 UI / ml, teste de 245 de adulti sanatosi si
301 de copii sntoi a artat c aproximativ 13%
din fiecare grup au avut niveluri scazute de IgD. [9]

Mortalitatea / Morbiditatea
Nivele sczute sau nedetectabile de IgD, n lipsa
altor boli concomitente sau defecte imunitar (de
exemplu,, deficit de imunodeficientei comuna
variabila completare), nu sunt asociate cu o
morbiditate sau mortalitate crescut. n mod
specific, pacientii cu niveluri IGD sczute sau
nedetectabile nu demonstreaz o inciden crescut
a infeciilor de orice fel. [14]

Sex
Nivelul general de Ig serice sunt mai mari la
barbati decat femei, [15] dar incidenta specifice de
IgD anormal de mici este aproximativ egal ntre
cele dou sexe. [9]

Vrst
Copiii mai mici de 3 ani, atat cu si fara un
imunodeficientei, par a avea o prevalenta crescuta a
nivelurilor IGD a sczut [16, 17, 18] Dup
copilrie, vrsta nu este asociat cu prevalenta
crescuta a nivelului IgD sczute..