What is Primary Immunodeficiency?

[Guest guest]

Has anyone heard of Primary Immunodeficiency?

http://www.info4pi.org/

I only recently read about it and it's a lots of confusing terms and

one of them might have to do with igA.

If someone knows about it could you explain it to me?

[Guest guest]

I not only have heard of primary immunodeficiency, I have it, and it wasn't

diagnosed until

I was nearly 50 years old. However, I've had it all my life. This is not an

off-topic question,

by the way, because primary immunodeficiencies are very common in the autism

spectrum.

There are (normally) two main components to the body's immune system: cellular

immunity (white blood cells, including the famous T-cells which become too few

in HIV/

AIDS, which is not a primary immunodeficiency); and humoral immunodeficiency,

which

means that the immunoglobulins, also called antibodies, in the serum of the

blood are

missing or deficient because the B-cells are not able to make them for some

reason.

IgA is immunoglobulin A, it is the main protective defense of the body's

mucous

membranes, as in the lining of the respiratory tract, the intestines, the

sinuses, etc...the

" inside lining " of the body as opposed to the outside, which is the skin. IgA

deficiency by

itself is the most common primary immunodeficiency in the general population,

occuring

about once in every 500 individuals. It doesn't seem to bother some people too

much, but

others have much more than the usual problems with infections and allergies.

Prompt

treatment of infections with antibiotics is the standard of care, and longer

than usual

treatment may be necessary since the body can't " clean up the infection

remnants " by

itself.

Interestingly, IgA deficiencies run in the same families with, and sometimes

coexist with,

the second most common primary immunodeficiency, which is ironically called

CVID.

Ironically because that means " Common Variable Immunodeficiency " and it occurs

once in

every 50,000 individuals, with or without concurrent IgA deficiency (I have

both, lucky me,

won the lottery).

This means that, in my case, both IgA is deficient (almost completely), and IgG

or

immunoglobulin G, antibodies in the blood that protect against deeper and more

dangerous infections like pneumonia, sepsis, cellulitis, infections that can

often become

fatal, are not present in normal amounts. Cellular immunity may also be poor,

but not as

much as SCID (also known as Bubble Boy syndrome or Severe Combined

Immunodeficiency).

There are three main clinical conditions that are associated with CVID:

infections

(obviously), autoimmune diseases (surprisingly, because the lining of the gut,

etc. is not

protected so large molecules get through and immune complexes form and create

immune havoc like lupus), and malignancies, especially non-Hodgkins lymphoma.

The standard of care for CVID is lifelong infusions with gamma globulin, which

is made

from fractionated human plasma and is highly purified. (Be sure you have good

medical

insurance before you get diagnosed with this! It is extremely and prohibitively

expensive

otherwise!) Because these are considered genetic diseases, and it didn't used

to be known

that some of them like CVID could simmer along for decades without diagnosis,

the

doctors who diagnose and treat them are pediatric immunologists. Sometimes not

all the

subsets of gamma globulin (G1, G2,G3, G4) are deficient.

There are other rarer PIDs like Frederick's ataxia, x-linked combined

immunodeficiency,

etc. but they are much less common.

Now: here's why this is not off-topic. Dr. Gupta did a study of the immune

competency of

20 autistic children. Of them, 4 had IgA deficiency, 2 had CVID, 9 had one or

more

subsets of IgG reduced, one of them also had myeloperoxidase deficiency, and one

had a

specific antibody deficiency with normal IgG subclasses. 7 had increased IgE,

an indication

of allergy problems.

IgA deficiency is also very common (like 7%) in celiac disease, which in the

case of my

grandson, caused gluten ataxia that looked like sensory vestibular problems.

Anybody else think this might just need further investigation?? Good question!

Peace,

Kathy E.

>

> Has anyone heard of Primary Immunodeficiency?

> http://www.info4pi.org/

> I only recently read about it and it's a lots of confusing terms and

> one of them might have to do with igA.

>

> If someone knows about it could you explain it to me?

>

[Guest guest]

IgA was low in our child when first measured at age 9. It fell to

an 'unmeasurable level' rather quickly. Seizures also appeared about

this time. She's a total gut sensitive person with seizures or neuro

irritability response to non tolerated foods. The gluten ataxia you

speak of is familar. Although I realize that this can be a 'primary'

deficiency, I look upon our experience as a toxin induced state.

Whatever it is called, it is very real. Our medical experience

was: 'yes, this is low/non-measurable but x% of people have this

with no detriment'. Hence, it was not something that anyone even

wanted to/would pursue or even offer helpful 'treatment'

suggestions. We learned over time that careful dietary management

was necessary. Other allergy symptoms are not a problem - However,

I've always thought that seizures would have been more quickly

abated if the docs we dealt with would have viewed them as Doris

Rapp writes 'an asthma attack in the brain.' Kathy, what would you

perceive the benefits of 'further investigation?'

> Now: here's why this is not off-topic. Dr. Gupta did a study of

the immune competency of

> 20 autistic children. Of them, 4 had IgA deficiency, 2 had CVID,

9 had one or more

> subsets of IgG reduced, one of them also had myeloperoxidase

deficiency, and one had a

> specific antibody deficiency with normal IgG subclasses. 7 had

increased IgE, an indication

> of allergy problems.

>

> IgA deficiency is also very common (like 7%) in celiac disease,

which in the case of my

> grandson, caused gluten ataxia that looked like sensory vestibular

problems.

>

> Anybody else think this might just need further investigation??

Good question!

>

> Peace,

> Kathy E.

>

>

>

>

> >

> > Has anyone heard of Primary Immunodeficiency?

> > http://www.info4pi.org/

> > I only recently read about it and it's a lots of confusing terms

and

> > one of them might have to do with igA.

> >

> > If someone knows about it could you explain it to me?

> >

>