Primary immunodeficiency secondary to ZAP-70 deficiency.

Authors

  • L T Barata Serviço de Medicina, Hospital Pediátrico, Coimbra.
  • R Henriques
  • C Hivroz
  • E Jouanguy
  • A Paiva
  • A M Freitas
  • H B Coimbra
  • A Fischer
  • H C da Mota

DOI:

https://doi.org/10.20344/amp.1861

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.

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How to Cite

1.
Barata LT, Henriques R, Hivroz C, Jouanguy E, Paiva A, Freitas AM, Coimbra HB, Fischer A, da Mota HC. Primary immunodeficiency secondary to ZAP-70 deficiency. Acta Med Port [Internet]. 2001 Aug. 31 [cited 2024 Mar. 29];14(4):413-7. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1861

Issue

Section

Arquivo Histórico