Kabuki syndrome

2. Clinical manifestations and complementary tests
Kabuki syndrome (KS) is associated with damage to different organs including the immune system. Although ear infections were described from the beginning as a very frequent occurrence in this syndrome, the immunological study in these patients has only been carried out systematically since 2005.
The immune defects observed in these children may predispose them to bacterial, pulmonary, ear, etc. infections, as well as to autoimmune problems such as plateletopenia, anemia or vitiligo. Infections caused by viruses are not usually a problem for these patients.
Not all children affected by the syndrome will present defects in the immune system. The actual incidence of this defect among these patients is still unknown and the exact mechanism by which these patients develop an immune defect is still unknown.

We do know that in case of developing an immune defect, this usually affects mainly B lymphocytes, causing what we call a humoral defect. For this reason we can see children with fewer B lymphocytes or immunoglobulins, which are their direct product. Sometimes we can also see a loss of response to previously administered vaccines, which we call a defect in memory acquisition.
These humoral defects explain why patients are more vulnerable to contract infections and have the autoimmunity problems we already described.
Currently, there is no clear recommendation on the type of immunologic follow-up that these patients should follow. But, considering what we have explained, we consider that it is advisable that an immunological study be performed in Kabuki syndrome, at least on one occasion, and especially in those patients with recurrent infections or autoimmunity. This analysis should include:
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hemogram (to quantify the white blood cells)
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microorganisms' study during the infection (to determine the causative germ)
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quantification of immunoglobulins (total IgG, A, M and IgG subclasses, the latter if the patient is more than 4 years old)
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Vaccine response (generally Ac anti diphtheria, tetanus and pneumococcus).
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B and T lymphocyte count.
These tests will allow us to determine the type of immune deficit of the child. Even if we have a normal initial study, it will be necessary to be attentive to the alarm signs in order to reevaluate the patient in case they appear (repeated infections and/or autoimmunity).
If the child with Kabuki syndrome has had multiple lung infections, a pulmonary evaluation is also advisable, by referral to a pulmonologist specialist and assessment of functional tests (spirometry) and an imaging test, usually a CT scan.