Background: immunodeficiency occurs simultaneously in B and T

Background: Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency in which
defective B cell isotype switching results in a phenotype characterized by
elevated or normal serum IgM levels and low levels of other immunoglobulin
classes, leading to an increased susceptibility to infection, neutropenia,
autoimmune disorders, and malignancies. In this disease, a mutation occurs in CD40
gene, and immunodeficiency occurs simultaneously in B and T lymphocytes. Oral manifestations
of this primary immunodeficiency include wound-like lesions, oral candidiasis,
gingivitis, periodontitis, and enamel defects. Theoretically, systemic conditions
affecting ameloblastic activity during enamel mineralization, i.e. abnormal
oxygen levels resulting from hypoventilation in various respiratory diseases result
in enamel defects.

presentation: We report a
10-year-old male with hyper-IgM immunodeficiency. The patient had suffered from
frequent infections, respiratory problems, and bronchopneumonia from the age of
2 years. At 4 years of age, diabetes mellitus type 1 was diagnosed. During the
dental evaluation, enamel defects were found in seven permanent teeth.

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Conclusion: A meticulous dental evaluation of children with systemic
diseases is mandatory in
order to discover possible developmental dental defects and to plan early

Key Words: Hyper-IgM Immunodeficiency Syndrome, Immunoglobulins,
Enamel Hypoplasia


Hyper-IgM syndrome
(HIGM) is a rare genetic primary immunodeficiency disorder in which the levels
of immunoglobulin (Ig) A, G, and E reduce, while the level of IgM is normal or
increased. (1-3) The inheritance is usually X-linked, but autosomal recessive and autosomal
dominant forms have also been documented. (4-6) X-linked hyper-IgM is caused by
the defective expression of the CD40 ligand. Mutation in CD40 gene results in simultaneous
immunodeficiency in B and T lymphocytes. Since CD40 is necessary for the appropriate
functioning of T lymphocytes and macrophages, various defects are observed in
this group of cells in a patient with HIGM. (4,5) Most HIGM patients show
clinical signs in the first or second years of life, the most common of which
are frequent infections, neutropenia, autoimmune diseases, and malignancies. (3,7-9)
Oral manifestations including wound-like lesions, oral candidiasis, gingivitis,
periodontitis, and enamel defects have also been reported. (10,11)

during enamel matrix secretion or enamel mineralization lead to hypoplasia or
hypomineralization during amelogenesis. (12,13)

Based on the developmental
defects of dental enamel (DDE Index), three types of enamel defects are
demarcated opacities, diffuse opacities, and hypoplasia. In a demarcated
opacity defect, alteration in the translucency of enamel is obvious with a distinct
border and can be white, creamy, yellow, or brown. A demarcated opacity defect results from a
trauma to ameloblasts during the maturation stage or infections in the matrix
secretory or early maturation stage. A diffuse opacity appears in the shape of
a white line or patch with changes in the enamel translucency; however, there
is no clear boundary with the adjacent normal enamel. This defect has been
associated with an arrest in enamel maturation. In enamel hypoplasia, the
quantity and thickness of enamel have decreased. The affected tooth can be
white, yellow, or brown with a rough or pitted surface. This is due to a damage
to enamel matrix secretion in amelogenesis stage 1.

factors related to the DDE are divided into two categories: the factors with a
localized distribution including trauma, localized infection, and irradiation, and
those with a generalized distribution including genetic and environment. Infectious
diseases and other medical conditions are possible environmental etiologic
factors for the DDE. (13-15)

Here, we report
a 10-year-old male with hyper-IgM immunodeficiency. Demarcated enamel opacities
were detected in seven permanent teeth.




The following
is a case report of a 10-year-old male who referred to the department of pediatric
dentistry of the dental branch of Islamic Azad University of Tehran for dental
evaluation and treatment. There was no history of the disease in the siblings
or other close relatives. The genetic evaluation had not been performed;
however, as the siblings or other close relatives were not involved, the mutation
may be the probable mode of inheritance.

In the medical history of the patient, it was
reported that frequent infections, respiratory problems, and bronchopneumonia had
occurred from the age of
2 years. As a result, immunological diagnosis was done for the patient, which showed
normal blood cell counts and serum Ig levels of IgA