In this lecture, I'm going to review the basic
humoral immune disorders in children.
Basically we're talking about disorders
where children can't mount a humoral
or blood response to these organisms.
These patients are more prone to encapsulated organisms.
Examples include Strep pneumoniae,
H. flu (generally non typeable)
and Neisseria meningitidis.
So, these patients will typically present
with sinopulmonary infections.
Different humoral immune deficiencies
present at different ages
and in different ways.
Let's review them by age group.
In children who are 0-6 months ,
these children will generally present
if they have a severe humoral deficiency.
Examples of this would be X-linked agammaglobulinemia
or Hyper IgM syndrome which is quite rare.
Between 2 and 6 years of age,
children will often present if they have IgA deficiency,
a selective IgG deficiency, hypogammaglobulinemia,
or hyper IgE syndrome or Job syndrome.
There's some variability here, for example,
some patients with hypogammaglobulinemia
will not show up too much later in life
even maybe when they're 18.
But this is generally when they present.
Flip side, patients will present much later
if they have common variable immune deficiency
It will be very unusual to present before the age of 6.
The average age is in the 20s.
Or they may have acquired disease.
An acquired example of a humoral immune deficiency
would be HIV or lupus.
So, let's start with Job syndrome.
Patients with Job syndrome have very high levels of IgE,
in the thousands.
This patients will typically present with coarse facies.
Although it's hard to pick it up in a child,
based on their appearance alone.
Coarse facies means large ears, large nose, large chin, large eyes,
generally large sub units on the face.
But coarse facies is not typically how we make the diagnosis.
We usually make it because of their skin and their infections.
So these patients will have recurrent sinopulmonary infections.
By sinopulmonary, I mean sinosinus
and pneumonia or otitis media.
They can also develop eczema and will have significant eczema,
and they can develop recurrent cellulitis of the skin.
This is classic for Job syndrome.
Treatment for these patients is supportive.
We provide them antibiotics for their bacterial infections.
And we generally, need to to support them because
this is a very challenging disease to live with.
That's where the biblical name of Job comes from.
These patients feel like life is consistently a trial.
So, we have to support them.
The next is IgA deficiency.
The vast majority of patients with IgA deficiency
have no symptoms.
But a smaller percentage will present in 4 different possible ways.
One, they may present with recurrent sinopulmonary infections.
We treat them for each of their own infections
and you might consider giving IVIG
to supplement the effect of that treatment.
Patients may present with GI disorders
such as celiac or inflammatory bowel disease.
In this case, we'll treat the disease and again consider IVIG.
They may present with autoimmune disease,
such as lupus or JIA.
Again, treat disease, consider IVIG.
And lastly, they may present uniquely with anaphylaxis
to transfusion of blood or IVIG
which we were considering to give them.
These patients may require desensitization to blood products,
which is a complicated procedure.
Let's switch gears now to X-linked agammaglobulinemia
The issue with these patients is
they have relatively no or little immunoglobulins in the blood.
This is typically in males because it's X-link recessive.
And these patients will often present very severely,
early in childhood with failure to thrive.
Later in childhood or an early adult presentation is typical
of hypogammaglobulinemia but not agammaglobulinemia.
Typically, these patients will have recurrent otitis media.
They will have recurrent sinusitis, recurrent pneumonia
and we'll treat them with regular IVIG infusions every 3 weeks.
We're going to provide them with the IVIG they need to survive.
Let's switch gears one more time to common variable immune deficiency.
This is a B-cell deficiency.
These patients have a high risk of auto-immune disorders like
autoimmune hemolytic anemia
or immune thrombocytopenic purpura.
They're also at a high risk for malignancies
such as lymphoma or gastric carcinoma.
And typically these patients present later.
The average age of patients is 26 years old,
but they may present earlier also.
These patients are going to be treated with IVIG.
So, we'll treat them and provide them with the IVIG they need
to keep them going.
So, that's my summary of the humoral immune deficiencies in children.
Thanks for your time.