Small or absent tonsils

Introduction Congenital hypogammaglobulinemia: more than 4 to 12 months after birth, lymph nodes and tonsils are absent or small, thymus development is normal. Developmental disorders due to repeated infections.

Cause

There are two kinds of concealed recessive inheritance and autosomal recessive inheritance. The former is transmitted by females, only males are ill, and the latter is not gender-limited.

an examination

Related inspection

Nasopharyngeal MRI examination of otolaryngology CT examination

Lymph node dysplasia, small or absent tonsil, although repeated infections, lymph nodes and spleen are not swollen. Various purulent infections such as pneumonia, meningitis, otitis media, sepsis and impetigo often occur.

Auxiliary inspection:

1. The total amount of serum immunoglobulin is less than 250 mg/dl, IgG is less than 200 mg/dl, and IgA, IgM, IgD and IgE are difficult to detect.

2. B cells with surface Ig or Ia-like antigens in the circulation are significantly reduced, which is different from common variant immunodeficiency diseases.

3. Lack of the same hemagglutinin or low titer.

4. The antibody response to vaccination is extremely low or absent.

5. The number of lymphocytes in peripheral blood is normal, with the percentage of T cells rising, while B cells are rarely (<0.5%) or absent. The T/B cell ratio increased.

6. The cellular immune function is normal. Lymph node and tonsil biopsy lacks germinal centers and plasma cells (and normal amounts of pre-B cells in the bone marrow).

Differential diagnosis

The tonsils, also called the tonsils, are located on both sides of the pharynx and are a kind of lymphoid organs with certain defense and immune functions. Infants before the age of 1 have undeveloped glands and blood vessels. They are invisible or inconspicuous when examining the pharynx; the tonsils gradually increase after 1 year of age, and peak at 4 to 10 years of age. Lymph node dysplasia, small or absent tonsil, although repeated infections, lymph nodes and spleen are not swollen. Various purulent infections such as pneumonia, meningitis, otitis media, sepsis and impetigo often occur.

Auxiliary inspection

1. The total amount of serum immunoglobulin is less than 250 mg/dl, IgG is less than 200 mg/dl, and IgA, IgM, IgD and IgE are difficult to detect.

2. B cells with surface Ig or Ia-like antigens in the circulation are significantly reduced, which is different from common variant immunodeficiency diseases.

3. Lack of the same hemagglutinin or low titer.

4. The antibody response to vaccination is extremely low or absent.

5. The number of lymphocytes in peripheral blood is normal, with the percentage of T cells rising, while B cells are rarely (<0.5%) or absent. The T/B cell ratio increased.

6. The cellular immune function is normal. Lymph node and tonsil biopsy lacks germinal centers and plasma cells (and normal amounts of pre-B cells in the bone marrow).

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