title: [Primary immunodeficiency secondary to ZAP-70 deficiency].
abstract: 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.
authors.affiliation: Serviço de Medicina, Hospital Pediátrico, Coimbra.
authors.forename: L T
authors.initials: LT
authors.lastname: Barata
authors.forename: R
authors.initials: R
authors.lastname: Henriques
authors.forename: C
authors.initials: C
authors.lastname: Hivroz
authors.forename: E
authors.initials: E
authors.lastname: Jouanguy
authors.forename: A
authors.initials: A
authors.lastname: Paiva
authors.forename: A M
authors.initials: AM
authors.lastname: Freitas
authors.forename: H B
authors.initials: HB
authors.lastname: Coimbra
authors.forename: A
authors.initials: A
authors.lastname: Fischer
authors.forename: H C
authors.initials: HC
authors.lastname: da Mota
mesh_terms: D003594:Cytoplasmic Granules; D005260:Female; D058851:GPI-Linked Proteins; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000276:immunology*; D007223:Infant; D008562:Membrane Glycoproteins / Q000172:deficiency*
chemical_list: C489339:GP2 protein, human; D058851:GPI-Linked Proteins; D008562:Membrane Glycoproteins
vernacular_title: Imunodeficiência primária por défice de ZAP-70.