[Severe combined immunodeficiency: description of a clinical case].
A Severe Combined Immunodeficiency (SCID) is a rare disease, with recessive autosomic or X linked inheritance. The clinical phenotype is related to the defect of specific antigen response. The authors describe a patient presenting recurrent infections, affected by SCID, with multiple hospitalizations. Immunologic evaluation was performed and adenosine deaminase deficiency was excluded. The patient was submitted to herniography and he died seven days after the surgery. The preparation for bone marrow transplantation was provided. The anatomo-pathological findings had showed immunologic system alterations. The early clinical diagnosis and the therapy are discussed.
Dantas
E O
EO
Unidade de Alergia e Imunologia, Faculdade de Medicina, Universidade de São Paulo.
Alves
F P
FP
Marques
A P
AP
Rodrigues
A M
AM
Pastorino
A C
AC
Jacob
C M
CM
Grumach
A S
AS
D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D012737:Sex Factors; D013154:Spleen / Q000473:pathology; D013950:Thymus Gland / Q000473:pathology; D005719:gamma-Globulins / Q000627:therapeutic use
D005719:gamma-Globulins
Imunodeficiência combinada severa: descrição de caso clínico.