[Immune deficiencies: diagnosis, management, some perspectives].
Severe primary immunodeficiencies (PID) are rare; their global incidence is comparable to that of childhood leukemia; they include more than 100 different entities. Clinical manifestations are: unusually severe or frequent infections or infections that do not respond to adequate treatment; an increased risk of certain malignancies; sometimes auto-immune manifestations. Delayed diagnosis and management of PID can lead to severe and irreversible complications or to death. PID can become manifest only in the adult; in common variable immune deficiency, the median age at diagnosis is between the 2nd and the 3rd decade of life. PID are often transmitted genetically; recent progresses in molecular biology have allowed more precise and earlier, including antenatal, diagnosis. Molecular treatment of 3 infants with a severe immunodeficiency has recently been achieved in April 2000. Those progresses were mostly based on the study of immunodeficiency databases. We present here the work of a Belgian group specialized in PID; meetings have started in June 1997. This group establishes guidelines for the diagnosis and treatment of PID, adapted to the local situation. The elaboration of a national register of PID is also underway; this has to provide all guaranties of anonymity to patients and families. Such a register already exists at the European level; it has provided the basis for new diagnostic and therapeutic possibilities. The inclusion of Belgian data in this register should allow essential progresses essential for our patients.
Farber
C M
CM
Hôpital Erasme Unité de Traitement des Immunodéficiences Route de Lennik 808 1070 Bruxelles.
Benoit
Y
Y
Boven
K
K
De Baets
F
F
Ferster
A
A
Hoyoux
C
C
Mascart
F
F
Otten
J
J
Philippet
P
P
Van Lierde
S
S
Van Vooren
J P
JP
Vermylen
C
C
D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000465:Algorithms; D001530:Belgium / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D016208:Databases, Factual; D003663:Decision Trees; D005060:Europe / Q000453:epidemiology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000276:immunology / Q000628:therapy*; D015994:Incidence; D007223:Infant; D007239:Infections / Q000209:etiology; D011159:Population Surveillance; D017410:Practice Guidelines as Topic; D012042:Registries