Immunodeficiency/immune deficiency/infectious susceptibility may manifest as follows:
- Recurrent bacterial and/or viral infections.
- Hepatomegaly (enlargement of the liver) or hepatosplenomegaly (enlargement of the liver and spleen) [immunodeficiency].
In addition, the following conditions may occur in (primary) immunodeficiency:
- Malignancies (cancers) of all kinds, but especially lymphatic.
- Autoimmune diseases
- Allergies
- Enteropathies (diseases of the mucous membrane of the gastrointestinal tract).
- Developmental defects of all kinds
- In principle, the involvement of all organ systems is possible
Congenital (primary immunodeficiencies) manifest in early infancy: for example, as a spontaneously occurring graft vs host reaction (GvHR). This is understood to be a donor vs. recipient reaction, as occurs in stem cell transplantation. Furthermore, recurrent systemic infections with atypical mycobacteria or other severe major infections. Monotopic recurrent infections, that is, infections that occur repeatedly in one location, are more likely to indicate a local problem than a primary immunodeficiency. Local causes of monotopic recurrent infections:
| Infection site | Possible cause |
| Airway | Bronchial asthma, bronchial malformations, bronchopulmonary dysplasia (BPD; chronic lung disease that occurs primarily in premature, low-birth-weight infants when these infants are artificially ventilated for prolonged periods), foreign body aspiration, esophagotracheal fistula, ciliary dyskinesia syndrome, cystitic fibrosis (cystic fibrosis) |
| Urinary tract | Malformations, reflux |
| Skin | Eczema, burns |
| Meninges | CSF fistula, neuroporus |
| Ears | Adenoid |
Differences between physiological and pathological susceptibility to infection:
| Infection trait | Physiological susceptibility to infection | Pathological susceptibility to infection |
| Frequency | Maximum of 8 minor infections* per year until infancy, then less frequent | ≥ 8 minor infections* per year through infancy and beyond |
| Severe | Mild, minor infections* | Partially severe, major infections* * |
| Course | Acute | Chronic, recurrent |
| Recurrence with the same pathogen | No | Yes |
| Opportunistic infection (germs that never make immunocompromised people sick) | No | Yes |
| Residuals | No | Yes |
* e.g., influenza infections, acute upper respiratory tract infections, tonsillitis (tonsillitis)* * pneumonia (pneumonia), meningitis (meningitis), osteomyelitis (osteomyelitis), sepsis (blood poisoning), septic arthritis, empyema (collection of pus in a preformed body cavity), deep visceral abscesses.
The acronym ELVIS (pathogen, localization, course, intensity, sum) describes the characteristic parameters of pathological susceptibility to infection. In the case of polytopic or atypical localizations of infection, an immunodeficiency should be clarified.
Warning signs (red flags) for primary immunodeficiency (PID)
- Family history: e.g., consanguineousness (biological or genetic relatedness), primary immunodeficiency, pathologic susceptibility to infection (see above)
- Immundysregulation: “GARFIELD” (acronym for: Granulomas (inflammation-related nodular tissue neoplasm), autoimmunity, recurrent fever, eczema, lymphoproliferation, chronic intestinal inflammation).
- Failure to thrive, weight loss, usually with diarrhea (diarrhea).
- Laboratory diagnosis: differential blood count (lymphopenia (deficiency of lymphocytes), neutropenia (deficiency of neutrophil granulocytes)); hypogammaglobulinemia (deficiency of immunoglobulins).
