Experts: How a child falls ill may indicate an innate immune fault
- If a child is frequently ill, if infections are severe or unusual, if they are recurrent and require prolonged antibiotic therapy, if multiple specialists are required - it is worth considering whether innate immune faults lie at the root of all the child's health problems.
- It is important that the suspicion of congenital immunodeficiency already arises during contact with the paediatrician or internist. This is because early detection of the disease and the implementation of appropriate treatment make it possible to reduce the frequency of infections and the associated serious systemic complications.
- To shorten the time to diagnosis and diagnosis, the PCP should take a family history, physical examination and order laboratory tests such as blood count with smear, proteinogram, concentration of gammaglobulins IgG, IgM, IgA, i.e. basic immune proteins. Then - in the case of suspected innate immune defects - the child should be referred to an immunologist for further diagnosis.
Due to advances in the diagnosis of many diseases with underlying immune disorders, the name 'primary immunodeficiencies' (PNOs) has been changed to 'congenital immunodeficiencies', which are subject to immunological and genetic diagnosis.
The name 'primary immunodeficiencies' suggested to everyone - doctors, patients and parents alike - that we were only talking about diseases associated with the occurrence of problematic infections. In contrast, the functions of the immune system are much more complicated. We can also speak of innate immune deficiencies in situations where infections do not occur at all or co-occur with other problems - explains Sylwia Kołtan, MD, PhD, UMK Professor, National Consultant in Clinical Immunology (Department of Paediatrics, Haematology and Oncology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun). - Innate immune errors not only broaden the spectrum of thinking of diseases in this group as deficiency, but also draw attention to the possibility of other health problems in our patients. There are currently ten categories of innate immune errors.
Unusual, prolonged, severe infections
First of all, it is important to remember that children can suffer from innate immune faults, and that diseases of this group exist. If a paediatrician sees a patient with an atypical infection, caused by microorganisms that are not usual for children, or if the course of such an infection is far from usual, severe or even exceptionally severe, this is already an indication to consider whether the child has some kind of immunodeficiency, an error in immunity.
We should think about innate immune faults when recurrent respiratory diseases and for certain medical conditions gastrointestinal tract - not only associated with infectious diseases. Such suspicion should also arise with skin lesions, particularly severe onesThese include bacterial infections, fungal infections, viral skin infections, atopic dermatitis (especially severe), eczema, erythroderma, granulomas of the skin. Another important point is that children who have innate immune deficiencies may develop complications in the form of malignant diseases - says Prof. Dr. med. Teresa Jackowska, President of the Polish Paediatric Society, Head of the Paediatrics Clinic of the CMKP in Warsaw.
For respiratory infections - e.g. sinusitis, pneumonia of bacterial aetiology, bronchitis, otitis - it is important to pay attention to those that are prolonged, require rapid implementation of antibiotics or even the use of prolonged antibiotic therapy. This is an alarm signal for the paediatrician to start suspecting and diagnosing innate immune faults.
The hallmarks are high frequency, severe course and, in autoimmune or severe allergic diseases, early onset, poor response to treatment and a course that is often atypical. Very characteristic of patients with congenital immunodeficiencies is the fact that they are cared for by a range of specialists - says Prof Koltan - Not so rarely in paediatrics we also have the problem of recurrent tonsillitis, in this group of children, there will be patients with so-called PFAPA, i.e. recurrent pharyngitis, aphthae, reactionary lymphadenopathy and, above all, with cyclic fever. It is a symptom so characteristic that parents are almost able to say: "Oh, there will be a fever again tomorrow".
Warning signals worth knowing
There are ten warning signs that should prompt the parent to contact the paediatrician and the paediatrician to widen the diagnosis for congenital immunodeficiency.
In the case of ear infections are recurrent inflammations 4 times a year. Further signs include 2 severe pneumonias (with emphasis on severe), 2 or more serious sinusitis annually," mentions Prof. Jackowska. - Use of antibiotics for two months or more is also an important warning. To the pool should be added: the need to intravenous administration of antibiotics, no weight gain and skin abscesses, especially recurrent and deep ones, as well as oral thrush. If, in this disease, which is common in children, symptoms recur and are very difficult to treat, it is the paediatrician's role to think about innate immune faults.
However, even the most severe immunological diseases do not always become apparent in the first days or weeks of life. It may be that severe combined immunodeficiency only becomes clinically apparent to the parent and the doctor when the child is several months old.
It is very typical for the most severe immunological diseases that children end up in hospital with a suspicion of not at all an innate immune defect, but because of some other problem, such as chronic diarrhoea or various abnormalities in peripheral blood counts - adds Prof Koltan.
Basis for diagnosis - family history and initial diagnostic tests
Delayed diagnosis in the case of the most severe immunodeficiency (so-called severe combined immunodeficiency, SCID) can have tragic consequences. If the disease is diagnosed by the age of three months and the right therapy is implemented early enough, there is a great chance that such a child can be completely cured. If the diagnosis of the disease occurs after the third month of life, the chances of a complete cure unfortunately decrease significantly.
That is why it is so important to take the first step and, already at the level of the primary care physician, to carefully collect the family historywhich forms the basis of the diagnosis. It is important to check as soon as possible whether there is a family history of congenital immunodeficiency, other serious illnesses, deaths of undetermined cause, miscarriages and stillbirths. It is also necessary to gather precise information about the child's previous illnesses and their course.
In addition, it is important to perform physical examinationsThese include, but are not limited to: measurement of body weight and height, head and neck examination, visual and oral examination, control of body proportions, length of limbs, seating of ears and - in children - observation of skin changes.
It is extremely important for us to know that there is a family history of congenital immunodeficiency. For both parents and doctors, the case is then much easier because everyone is alert, thinks about this deficiency and knows that it should be excluded or confirmed in the child being diagnosed, in order to determine further care for the child. - states Prof Koltan.
In the initial diagnosis, the GP should also order laboratory tests: blood count with smear and proteinogram. The morphology must be well interpreted, paying attention not only to the white blood cells (granulocytes or lymphocytes) but also to the platelet cells and red blood cell parameters.It is also advisable to carry out an examination of the IgG, IgM gammaglobulin levels, IgAor basic immune proteins. Unfortunately, within the framework of primary care, this test is payable. It can only be ordered free of charge by an immunologist, which unfortunately increases the time it takes to diagnose a child with congenital immunodeficiency.
If there are already very large deviations in these tests, we advise and recommend that the child is immediately referred to a unit for the diagnosis and treatment of congenital immunodeficiency. If, on the other hand, the abnormalities are minor, it is advisable to go to the nearest general paediatric hospital, where other tests can be carried out to confirm or rule out the disease in question. - explains Prof Jackowska.
Diagnosis - and what next?
When the child returns from the immunologist after diagnosis, It is extremely important that everyone works together. This cooperation is demonstrated by the clinical immunologist. He or she draws up recommendations for the daily care of the child, talks to the parents, indicates an appropriate diet, explains what the child should avoid, i.e. crowded places, sunlight, trauma, for example, as these can be dangerous. The immunologist also defines the alarm symptoms - says Prof Koltan. - Another person in the team caring for the patient is the paediatric primary care doctor, who responds to such 'everyday' situations as the onset of a fever.
Once the diagnosis has been established and in accordance with the immunologist's recommendations, the immunization package should be implemented. These should not only affect the sick child, but also those around him. These are the so-called 'cocoon' vaccinations. Children are more likely to become infected in the home environment than in the playground, for example.
Many times, the primary care physician does not receive timely information that a diagnosis of severe congenital immunodeficiency has been made. Parents should therefore notify the paediatrician immediately, who can take action even before the child is discharged from the immunology department. It is therefore a good idea for the 'cocoon strategy' to start while the diagnosis is being made, i.e. before the patient goes home - concludes Prof Jackowska.
The primary treatment used for some people with congenital immunodeficiencies is immunoglobulin replacement therapywhich provides the child with protection against infection. Products for it are obtained from blood plasma donated by a healthy person. To obtain enough immunoglobulin preparation to treat one patient with congenital immunodeficiency per year, plasma needs to be obtained from approximately 130 donations. For patients, therefore, plasma represents a a priceless gift that most of us can share with those in need.
Congenital immunodeficiency usually requires lifelong treatment, which is why the It is important to educate the patient himself, his family and his immediate environment. It is important to get knowledge from reliable sources, patient organisation portals, e.g. www.immunoprotect.pl or a platform developed in collaboration with medical experts in clinical immunology and paediatrics www.madraopieka.pl
Education and awareness campaigns play an important role in spreading knowledge in the area of innate immune faults. This year's second The "Resilience can be shared" campaign is being run under the title "What's up with this PNO?". and focuses on increasing the recognition of signals indicative of congenital immunodeficiency in children and shortening the diagnostic pathway between GP, paediatrician and clinical immunologist. Educational material in video form is available at https://madraopieka.pl/odpornoscia-mozna-sie-dzielic/o-co-cho-pno/?utm_source=PR&utm_medium=informacja_prasowa&utm_campaign=O-co_cho_PNO&utm_term=link
The educational activities of the campaign 'Immunity can be shared. What's the big deal with this NSAID" is the Association for people with immune deficiencies "Immunoprotect". The campaign's partners are the Institute for Patients' Rights and Health Education, the National Forum for Rare Disease Therapy - ORPHAN, the Dreaming Immunity Foundation. Takeda is a patron of the campaign.