[Primary immunodeficiency secondary to ZAP-70 deficiency].
The authors present the case of a child with recurrent infections since the age of 4 months, including bilateral pneumonia by Pneumocystis carinii and protracted varicella. Serum immunoglobulin values (when 10 months old), and B cell values were normal. There was persistent lymphocytic leucocytosis, near absence of CD8+ cells, and an increased CD4/CD8 ratio. The percentage of activated T cells and the expression of HLA class I were normal. Proliferation, activation and IL-2 synthesis studies in T cells showed a TCR/CD3-associated signal transduction deficit. ZAP-70 cDNA sequencing showed a mutation, and no ZAP-70 protein was detected in T cells. ZAP-70 deficiency is associated with a rare immune deficiency with absence of CD8+ T cells as well as a functional deficiency in T cells. Seven months after bone marrow transplantation the child is clinically well and immunologically recovered.
Barata
L T
LT
Serviço de Medicina, Hospital Pediátrico, Coimbra.
Henriques
R
R
Hivroz
C
C
Jouanguy
E
E
Paiva
A
A
Freitas
A M
AM
Coimbra
H B
HB
Fischer
A
A
da Mota
H C
HC
D003594:Cytoplasmic Granules; D005260:Female; D058851:GPI-Linked Proteins; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000276:immunology*; D007223:Infant; D008562:Membrane Glycoproteins / Q000172:deficiency*
C489339:GP2 protein, human; D058851:GPI-Linked Proteins; D008562:Membrane Glycoproteins
Imunodeficiência primária por défice de ZAP-70.