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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.

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Reticular Dysgenesis; De Vaal Disease; Congenital Aleukia; Severe Combined Immunodeficiency with Leukopenia; Hematopoietic Hypoplasia Syndrome.

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First described by O.M. de Vaal and V. Seynhaeve in 1959.

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Autosomal recessive.

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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 function.

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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.

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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.

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Maintain sterility in all procedures. These individual should be isolated at all time.

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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.

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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.

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