One of the rarest and most severe forms of combined
immunodeficiency characterized by congenital agranulocytosis, lymphopenia,
and lymphoid and thymic hypoplasia with absent cellular and humoral immunity
functions. Prognosis is generally poor in the first weeks of life.
Reticular Dysgenesis; De Vaal Disease; Congenital
Aleukia; Severe Combined Immunodeficiency with Leukopenia; Hematopoietic
First described by O.M. de Vaal and V. Seynhaeve in 1959.
An abnormality, yet undefined, interferes with
normal growth and maturation of immune cells along lymphoid and
myelomonocytic pathway, resulting in absent cellular and humoral immunity
Blood cell count shows normal erythrocytes and plate-
lets but no leukocytes. Bone marrow shows absent myeloid elements; myeloid
lineage has a characteristic maturation arrest at the stage of promyelocyte.
Thymus is small and without Hassall corpuscles. Lymph nodes and spleen are
hypoplastic and histologically devoid of lymphocytes.
Nearly all affected cases died from overwhelming
infections within a few days or weeks of birth. One child survived for 17
weeks in an isolated sterile environment. One case was reported to have bone
marrow transplant from an HLA-identical brother and survived with full
hematological and immunological reconstitution to 3 years of age.
Maintain sterility in all
procedures. These individual should be isolated at all time.
No known experience because of the
severity and the very early mortality associated with this condition.
Anesthetic considerations are related to a very high risk of infections.
Prophylactic antibiotics as indicated
for immunodeficient patients.
de Vaal O, Seynhaeve V: Reticular dysgenesia. Lancet II:1123, 1959.
Levinsky R, Tiedeman K: Successful bone-marrow transplantation for reticular
dysgenesis. Lancet I:671, 1983.