Transient infantile hypogammaglobulinemia (Transient hypogammaglobulinemia of children, late immunological start)

Reason : the disease is a protracted variant of hypoimmunoglobulinemia, characteristic of children 3-6 months old. Immunoglobulin levels usually normalize by age 5. The molecular genetic basis for the delay in immunoglobulin synthesis is not known. The reason may be the slow development of T-helpers. The content of T- and B-lymphocytes remains normal.

Age : no clear onset. Gender: both.

Key clinical and laboratory features:

1. Repeated SARS, nasopharyngitis, bronchitis, infections of ENT organs

2. Normal cellular immunity (CD3 + , CD4 + , CD8 + )

3. Decreased IgG less than 5.0 g/l, IgA less than 0.2 g/l, IgM less than 0.4 g/l.

Characterized by “small” infections (more than 6 times a year) in the form of nasopharyngitis, bronchitis, otitis media. Severe respiratory tract infections, similar to those that develop in children with total AT deficiency, are not typical. Diagnosis is usually made retrospectively after normalization of the child’s immunoglobulins.

Treatment: the disease ends with spontaneous recovery and does not require pathogenetic immunocorrection. Treat secondary complications of an infectious nature. With repeated pneumonia, it is possible to use intravenous immunoglobulins. Permanent replacement therapy is not carried out. In some cases, vaccination with live vaccines is not recommended.

Prognosis: favorable, but in isolated cases the disease transforms into CVID.

Defects in the phagocytic cell system

It makes up 10-15% of all primary immunodeficiencies. Insufficiency of phagocytes may be due to a violation of proliferation, differentiation, chemotaxis of neutrophils and macrophages and the actual defects of the phagocytosis process.

These are rare diseases with a characteristic clinical picture of purulent infection with abscesses of various localization. Characterized by severe pyogenic infections of the skin, mucous membranes, lungs (abscesses, purulent pleurisy, empyema). Purulent otitis media almost always occurs. The kidneys, liver, and skeletal system are often affected.

Chronic granulomatous disease (CGD, Good-Bridge-Berendes disease). X-linked and autosomal recessive inheritance is possible.

Cause : mutation of the CYBB gene (gp91phox), defect in the production of active oxygen radicals, inability of phagocytes to destroy phagocytized bacteria, incomplete phagocytosis. The most relevant pathogens include Stafilococc, Serratia, Klebsiella, Aspergillus, M.tuberculrsis.

Age : first weeks, months of life. Gender: mostly male

Key clinical and laboratory features:

1. Purulent infections of the skin and subcutaneous tissue (cellulitis, abscesses)

2. Low sensitivity to antibiotic therapy

3. Purulent lymphadenitis

4. Abscesses of the lungs, liver, brain

5. Lymphadenopathy, hepatosplenomegaly

Negative HCT test

The disease usually begins in early childhood, occasionally its debut is delayed until adolescence. The clinical picture includes a delay in physical development, BCG, purulent lymphadenitis, severe purulent infections of the skin and subcutaneous tissue. With the dissemination of infection, osteomyelitis, abscesses of the liver, lungs, and brain develop. An important distinguishing feature of the disease is the formation of granulomas with a possible violation of the patency of the gastrointestinal tract and the genitourinary tract.

Treatment: lifelong antibiotics in combination with antifungal therapy. Trimethoprimsulfamethaxazole is widely used. Long-term therapy with interferon-gamma is recommended, under the influence of which the production of active oxygen radicals increases.

Immunoreconstruction with TCM has had limited success. Given the complete preservation of lymphoid immunity in CGD, it is necessary to search for an HLA-identical donor and condition the patient, which increases the risk of infectious complications. An alternative is gene therapy, and the likelihood of developing leukemia should be taken into account.

Prognosis: life expectancy is longer in patients with symptoms that developed after a year. About 50% of patients survive to 30-40 years. In adults, infectious diseases are less common, but the tendency to life-threatening bacterial infections persists throughout life.

Job’s syndrome (Hyperimmunoglobulinemia syndrome E). The disease is very rare.

Any age of manifestation , from birth. Gender: both.

Cause : The genetic defect is not known. Job’s syndrome does not fit into the framework of a predominantly cellular, humoral or phagocytic defect. However, most patients have abnormal chemotaxis.

Key clinical and laboratory features:

1. Recurrent “cold” abscesses of the skin and soft tissues

2. Repeated pneumonia with the formation of bronchiectasis and pulmonary bullae

3. Persistent eczema

4. Recurrent otitis, sinusitis

5. Candidiasis

6. Pathological fractures, hyperextension of the joints

7. Characteristic facial features

8. Extremely high levels of IgE>1000 CU/l, eosinophilia> 0.7*10 9 cells/l.

The most common manifestations are “cold” abscesses, pneumonia, widespread candidiasis. Atopic dermatitis manifests itself from the first weeks of life, is persistent in nature with an atypical area of rashes. “Cold” abscesses of the skin and soft tissues are not accompanied by signs of inflammation, mature for a long time and require surgical treatment. Purulent otitis, sinusitis, pneumonia with the formation of pulmonary bullae, candidiasis of the skin and nails are characteristic.

Anomalies of the facial skeleton (skull asymmetry, prominent forehead, widely spaced eyes, potato-like nose), pathological fractures of tubular bones are pathological. A constant laboratory sign is an extremely high level of IgE (10,000 – 50,000 CU / l), eosinophilia.

Treatment: No specific treatment suggested. The basis of therapy is antibiotic therapy, including the constant use of antistaphylococcal antibiotics. For the treatment of pneumonia, intravenous antibiotics are used for long courses; for the treatment of atopic dermatitis, topical corticosteroids and moisturizers are used. The effectiveness of TCM has not been proven.

Prognosis: long-term prognosis is unfavorable, the main cause of death is bacterial (streptococcal, staphylococcal) and fungal (aspergillosis) infections.

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