Humoral Immune Deficiency

00:01 In this lecture, I'm going to review the basic humoral immune disorders in children.

00:08 Basically we're talking about disorders where children can't mount a humoral or blood response to these organisms.

00:17 These patients are more prone to encapsulated organisms.

00:20 Examples include Strep pneumoniae, H. flu (generally non typeable) and Neisseria meningitidis.

00:28 So, these patients will typically present with sinopulmonary infections.

00:33 Different humoral immune deficiencies present at different ages and in different ways.

00:39 Let's review them by age group.

00:42 In children who are 0-6 months , these children will generally present if they have a severe humoral deficiency.

00:48 Examples of this would be X-linked agammaglobulinemia or Hyper IgM syndrome which is quite rare.

00:56 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.

01:11 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.

01:20 But this is generally when they present.

01:22 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.

01:32 The average age is in the 20s.

01:34 Or they may have acquired disease.

01:37 An acquired example of a humoral immune deficiency would be HIV or lupus.

01:42 So, let's start with Job syndrome.

01:45 Patients with Job syndrome have very high levels of IgE, in the thousands.

01:51 This patients will typically present with coarse facies.

01:56 Although it's hard to pick it up in a child, based on their appearance alone.

02:00 Coarse facies means large ears, large nose, large chin, large eyes, generally large sub units on the face.

02:09 But coarse facies is not typically how we make the diagnosis.

02:13 We usually make it because of their skin and their infections.

02:17 So these patients will have recurrent sinopulmonary infections.

02:21 By sinopulmonary, I mean sinosinus and pneumonia or otitis media.

02:26 They can also develop eczema and will have significant eczema, and they can develop recurrent cellulitis of the skin.

02:34 This is classic for Job syndrome.

02:37 Treatment for these patients is supportive.

02:40 We provide them antibiotics for their bacterial infections.

02:44 And we generally, need to to support them because this is a very challenging disease to live with.

02:49 That's where the biblical name of Job comes from.

02:53 These patients feel like life is consistently a trial.

02:56 So, we have to support them.

02:58 The next is IgA deficiency.

03:02 The vast majority of patients with IgA deficiency have no symptoms.

03:09 But a smaller percentage will present in 4 different possible ways.

03:15 One, they may present with recurrent sinopulmonary infections.

03:20 We treat them for each of their own infections and you might consider giving IVIG to supplement the effect of that treatment.

03:29 Patients may present with GI disorders such as celiac or inflammatory bowel disease.

03:34 In this case, we'll treat the disease and again consider IVIG.

03:38 They may present with autoimmune disease, such as lupus or JIA.

03:43 Again, treat disease, consider IVIG.

03:46 And lastly, they may present uniquely with anaphylaxis to transfusion of blood or IVIG which we were considering to give them.

03:55 These patients may require desensitization to blood products, which is a complicated procedure.

04:03 Let's switch gears now to X-linked agammaglobulinemia or hypogammaglobulinemia.

04:09 The issue with these patients is they have relatively no or little immunoglobulins in the blood.

04:17 This is typically in males because it's X-link recessive.

04:21 And these patients will often present very severely, early in childhood with failure to thrive.

04:28 Later in childhood or an early adult presentation is typical of hypogammaglobulinemia but not agammaglobulinemia.

04:38 Typically, these patients will have recurrent otitis media.

04:42 They will have recurrent sinusitis, recurrent pneumonia and we'll treat them with regular IVIG infusions every 3 weeks.

04:51 We're going to provide them with the IVIG they need to survive.

04:56 Let's switch gears one more time to common variable immune deficiency.

05:00 This is a B-cell deficiency.

05:03 These patients have a high risk of auto-immune disorders like autoimmune hemolytic anemia or immune thrombocytopenic purpura.

05:12 They're also at a high risk for malignancies such as lymphoma or gastric carcinoma.

05:18 And typically these patients present later.

05:22 The average age of patients is 26 years old, but they may present earlier also.

05:27 These patients are going to be treated with IVIG.

05:32 So, we'll treat them and provide them with the IVIG they need to keep them going.

05:37 So, that's my summary of the humoral immune deficiencies in children.

05:41 Thanks for your time.