Autoimmune neutropenia, which primarily occurs in infants, is characterized by antibodies that destroy neutrophilic white blood cells, increasing the risk of infection.
Primary autoimmune neutropenia (AIN) is an autoimmune disorder first reported in 1975 that primarily occurs in infancy. In autoimmune neutropenia, the immune system produces autoantibodies directed against the neutrophilic protein antigens in white blood cells known as granulocytic neutrophils (granulocytes, segmented neutrophils, segs, polysegmented neutrophils, polys). These antibodies destroy granulocytic neutrophils. Consequently, patients with autoimmune neutropenia have low levels of granulocytic neutrophilic white blood cells causing a condition of neutropenia. Neutropenia causes an increased risk of infection from organisms that the body could normally fight easily.
Who is Affected?
Primary autoimmune neutropenia has been reported as early as the second month of life although most cases are diagnosed in children between 5 and 15 months of age. Girls have a slightly higher risk of developing AIN than boys. In neutropenia discovered at birth or shortly after birth, a diagnosis of allo-immune neutropenia (from maternal white blood cell antibodies passively transferred to the infant) is more likely.
Neutropenia
In infants neutropenia is defined by absolute neutrophil counts less than 1000/uL. After the first year of life neutropenia is defined by absolute counts less than 100/uL. Neutropenia may be primary in which is the only blood abnormality seen. In secondary neutropenia, other primary conditions occur, including other autoimmune diseases, infections, and malignancies. Neutropenia is considered chronic when it persists for more than 6 months.
Symptoms and Disease Course
Neutropenia, which may be discovered on routine blood tests, typically causes benign infections even when the condition is severe. Ear infections (otitis media) are the most common infection seen in autoimmune neutropenia and typically infection responds to antibiotic treatment alone. Infections associated with primary AIN are usually mild and limited, including skin infections such as impetigo, gastroenteritis, upper respiratory tract infections, and ear infections. Rarely, cellulitis and abscesses may occur.
Studies of children studied for up to six years showed that most cases of autoimmune neutropenia resolved spontaneously after a median of 17 months. In 80 percent of patients, neutropenia persisted for 7 to 24 months.
Diagnosis
Patients with autoimmune neutropenia are diagnosed on the basis of blood tests showing neutropenia and the presence of granulocyte-specific antibodies. In some cases, tests for granulocyte-specific antibodies need to be repeated several times before a positive result is seen. Bone marrow aspiration, if performed, is typically normal or it can show increased cell production with a variably diminished number of segmented granulocytes.
As association with prior parvovirus B19 has been made but this hasn’t been confirmed. Similar to the platelet deficiency idiopathic thrombocytopenic purpura, vaccines are suspected of triggering this disorder.
Treatment
Treatment consists of corticosteroids to reduce autoantibody production, antibiotics to prevent infection and granulocyte colony-stimulating factor (G-CSF) to temporarily increase neutrophil counts. In cases of severe infection or the need for surgery, intravenous immunoglobulin therapy may be used.
Resources:
Juergen Bux, Georg Behrens, Gudrun Jaeger, and Karl Welte, Diagnosis and Clinical Course of Autoimmune Neutropenia in Infancy: Analysis of 240 Cases, Blood Vol 91, Jan 1998: 181-186.
The copyright of the article Autoimmune Neutropenia in Autoimmune Disease is owned by Elaine Moore. Permission to republish Autoimmune Neutropenia in print or online must be granted by the author in writing.
my son has had autoimmune chronic neutopenia for three years now and has
had success controlling it with neupogen treatments but his condition still
remains the same.
Oct 31, 2008 7:47 PM
Guest
:
My son has autoimmune neutropenia too. He is now 18 months old and takes
neupogen injections every three days. If other moms would like to discuss
this condition and how it affects their children, or are looking for a mom
who has been through similar situations, I would love to chat. My email is
kellyeroach@yahoo.com
Nov 18, 2008 4:31 PM
Guest
:
my daughter has had this for 2 1/2 years. she is 4 now. she is off and on
neupogen depending on her infections and count. we were recently told she
may not outgrow it till the age of ten. this really is such a heartbreaking
illness. take care to all!
Nov 21, 2008 9:16 AM
Guest
:
My son was diagnosed at 9 months but was sick starting at 6 months. He
threw up everything, had a red face and always was warm. One day he had a
high fever for 3 days and his hands and feet were puffy. The intial visit,
the dr. said it was just a cold but I persisted and she ordered blood work.
My son has a severe low count at 0.05. It has been very low for 9 months
now. He does not take the injections at this time. We have been told that
he should outgrow by age 5 or so. Diet and rest play a huge part in living
healthy. He gets really sick every 3 months where he has to be
admitted.He's had baby measles, chest infection and a few ear infections.
He literally threw up everything up to age 15 months. He has good days and
bad days. The bad days...well...he is achy all over, doesn't eat, hardly
drinks, sleeps a ton and is just not himself. Yet, he can bounce right back
the next day. On the outside he is a healthy looking boy, he's off the
growth charts by 20%. This has been life changing especially with older
kids. No swimming pools, no play groups, no drop -in classes or travel.
Supportive family and friends make it easier.
Dec 12, 2008 2:27 PM
Guest
:
my daughter has this illness but we have never heard of the neupogen
treatment. she was diagnosed at ten months and is now three and a half. She
attends Crumlin hospital in Dublin.
Dec 18, 2008 2:03 PM
Guest
:
my son first had problems at 8 months, he was addmitted to hospital with
sickness, it was discovered his count was only 0.01, but it took months
before he was sent to addenbrookes. we go every 6 months, i find the blood
tests really heartbreaking as he screams everytime. i was always told that
the majority of children outgrow this by 2, my son is nearly 3 and the
highest his count has ever been is 0.5. i would really like to hear from
other parents living through this isolating illness, im only 23 and have a
daughter of 1 who is about to be tested for the same condition. my email is
lucy.baldwin@sky.com. i would also like to say MERRY CHRISTMAS!!!
Jan 7, 2009 8:03 PM
Guest
:
My husband has this blood disorder. He was diagnosed at 2 years old and is
now 26 and still taking the neupogen shots. We just took my 15 month old
daughter to be tested and her neutrophil count came back at .2 and she is
slightly anemic. We are taking her to see a pediatric
hematoligist/oncologist friday. I would like to hear from other people who
are dealing with the same illness. My email is Kandiangel17@yahoo.com. I
have a few questions so if anyone knows the answers that would really help
me. Is this condition hereditary? Has anyone had this disease longer than
a few years? What are the symptoms that your child has? My daughter has
had numerous ear infections (enough that they wanted to put in ear tubes, I
did not have the operation done because I was not comfortable with the
procedure),she gets boils on her diaper area that they have tested and it
has come back as a staph infection, she also gets painfull white sores in
her mouth and she now has tonsillitis. My husband also gets the mouth
sores and boils on his body. I would love to hear from anyone who is also
dealing with this disease.
Jan 16, 2009 1:32 PM
Guest
:
My daughter was diagnosed January 2008. She gets ill very quickly and this
past year our second home has been Yorkhill. The only meds she is on is an
antibiotic every night although she has been given GCSF which i have my
fears about. It feels abit better knowing we are not facing this alone.
Would like to hear from anyone in the same place and would like to get in
touch my email is jacquimck@live.co.uk
Mar 7, 2009 4:04 PM
Guest
:
My little girl is nearly 4, she became ill and had her first blood test at
21 months, which showed her neutrophils ay 0.2, since then her neutrophil
counts each month have varied between 0.01 and 1.1 (higher when ill). She is on prophalctic anti-biotics and responded to GCSF once. We live in
hope of her recovery and fear her infections (we tend to be hospitalized
every 2 - 3 mths for IV anti-biotics).BEST WISHES TO ALL ESPECIALLY THOSE
IN SIMILAR CIRCUMSTANCES
Mar 11, 2009 3:01 PM
Guest
:
My 1 year old son was diagnosed with this condition when he was 9 months
old. He is now almost 1 ½ and although the doctor said he should grow out
if it fairly quickly I just feel like that is not the case. He gets
neupogen shots once a week but his ANC counts continue to be all over the
map, never really getting over 500 or .5. They say the normal count should
be around 1500 or 1.5. They are now talking about giving him the shot twice
a week. I feel like he is already missing out on great experiences because
we have to keep him away from other kids. Anyways, if anyone ever needs to
talk my email is kt.edgar@yahoo.com. Good luck everyone, my thoughts
and prayers are with you all.
Mar 14, 2009 2:01 PM
Guest
:
sat 14th March 09 Hi my daughter was diagnosed with this horrible
condition when she was 7 mths old she is know 2 1/2 years old.We are under
the haemotology dept in Newcastle Upon Tyne.She mainly suffers with
repeated ear and chest infections but has also required surgery for an
abcess and hospital admissions for various other skin conditions etc.I
feel isolated unsupported and frustrated as a parent to a child with this
condition.I would be pleased to hear from anybody.gilly.angus@sky.com
Mar 15, 2009 10:40 AM
Guest
:
My daughter has this also. She is almost 2 yrs old and we found out when
she was 7 mon old. She had a boil on her bum and was not able to fight it.
We give her weekly GCSF injections to keep her counts up. She is admitted
in the hospital on a regular basis. She also had a bone marrow biaspy done
when she was 8 mon old and it showed NO signs of cancer - thank god. It is
really hard to try and work and have a normal life with this. No play
groups, day care ect. But she is worth it. My daughter looks like a normal
child on the outside. Her counts when we first found out were usually 0.0
or 0.1 . With the injections she now keeps counts at about 1.8 or sometimes
higher. She has also battled with a lot of mouth ulsers. Her mouth gets so
sore. I would love to talk to anyone who has a child with this illness as I
do not know of anyone else who battles this. I live in Nova Scotia, Canada.
My email is rubemandy@hotmail.com . I would love to hear from all of you.
It is great support I think. Thank you. I wish everyone all the best.
Mar 28, 2009 9:19 PM
Guest
:
I am not alone! It is heartbreaking but also comforting to read your
stories. My 19 month old daughter has just been diagnosed with this
illness and I am just doing my research to try and understand it. From her
first two weeks of life she has been sick, battling skin infections and ear
infections, throat infections, pneaumonia and just the constant state of
unwell. Being the fourth child I thought it was just bad luck until she
started loosing weight and became more and more irritable, unable to settle
at night and have an uninterrupted sleep. Blood test after blood test
showed anemia and infections. We have now had her on prophylactic
antibiotics for 6 weeks and she has gained a little weight and had 3
uninterrupted nights!! She has still been unwell for the 6 weeks needing
full courses of antibiotics inbetween. Luckily we have not needed the
injections yet and my heart goes out to all those children who do need
this. It was a relief to hear that there is a reason why my baby is so
unwell and now I can adjust our lifestyle to accomodate this. Like so many
of you out there are already doing, I will have to rethink playdays and
afterschool group activities in a bid to give her a fighting chance. It is
a heartbreaking illness and it just isn't fair, but we are so lucky in that
there are things that can be done to help our children live with this.
There are so many worse things that our children could be diagnosed with
and I thank my lucky stars every day that this is all she has. It is hard
and isolating, don't get me wrong, I understand , but I am a glass half
full kind of girl! We can deal with this and having contact with others
going through the same thing helps a huge amount!
Mar 28, 2009 9:34 PM
Guest
:
I am not alone! It is heartbreaking but also comforting to read your
stories. My 19 month old daughter has just been diagnosed with this
illness and I am just doing my research to try and understand it. From her
first two weeks of life she has been sick, battling skin infections and ear
infections, throat infections, pneaumonia and just the constant state of
unwell. Being the fourth child I thought it was just bad luck until she
started loosing weight and became more and more irritable, unable to settle
at night and have an uninterrupted sleep. Blood test after blood test
showed anemia and infections. We have now had her on prophylactic
antibiotics for 6 weeks and she has gained a little weight and had 3
uninterrupted nights!! She has still been unwell for the 6 weeks needing
full courses of antibiotics inbetween. Luckily we have not needed the
injections yet and my heart goes out to all those children who do need
this. It was a relief to hear that there is a reason why my baby is so
unwell and now I can adjust our lifestyle to accomodate this. Like so many
of you out there are already doing, I will have to rethink playdays and
afterschool group activities in a bid to give her a fighting chance. It is
a heartbreaking illness and it just isn't fair, but we are so lucky in that
there are things that can be done to help our children live with this.
There are so many worse things that our children could be diagnosed with
and I thank my lucky stars every day that this is all she has. It is hard
and isolating, don't get me wrong, I understand , but I am a glass half
full kind of girl! We can deal with this and having contact with others
going through the same thing helps a huge amount!
