RESUMO
OBJECTIVES: To characterize immunologic function and clinical characteristics in patients with chromosome 22q11.2 deletion syndrome and determine whether there was significant change over time. METHODS: This study characterized the laboratory and clinical features of the immunodeficiency in a cohort of 195 patients with chromosome 22q11.2 deletion syndrome and used cross-sectional and analysis of variance to compare the findings in different age groups with control patients. Changes over time were also characterized by a model effect method in a subset of patients who were studied serially. RESULTS: Diminished T cell counts in the peripheral blood are common in patients with chromosome 22q11.2 deletion syndrome. The pattern of changes seen with aging in normal control patients was also seen in patients with chromosome 22q11.2 deletion syndrome, although the decline in T cells was blunted. Autoimmune disease was seen in most age groups, although the types of disorders varied according to age. Infections were also common in older patients, though they were seldom life threatening. CONCLUSIONS: Slow declines in T cell populations are seen in chromosome 22q11.2 deletion syndrome. Clinical manifestations of immunodeficiency, such as recurrent infection and autoimmune disease, were common in this population but had little relationship to specific immunologic laboratory features.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22 , Síndrome de DiGeorge/imunologia , Formação de Anticorpos , Doenças Autoimunes/epidemiologia , Criança , Pré-Escolar , Modificador do Efeito Epidemiológico , Feminino , Humanos , Lactente , Recém-Nascido , Contagem de Linfócitos , Masculino , Subpopulações de Linfócitos T , Linfócitos TRESUMO
We examined T-cell proliferation in five patients with X-linked hyper-IgM syndrome (XHIM), using a panel of antigens and lectins. All patients had impaired antigen-induced proliferation, whereas their lectin responses were normal. Thus, in addition to severely depressed antibody responses, patients with XHIM have a defect in antigen-specific T-cell proliferation, which may explain their susceptibility to pathogens such as Pneumocystis carinii.
Assuntos
Antígenos/imunologia , Ligação Genética , Hipergamaglobulinemia/imunologia , Imunoglobulina M , Síndromes de Imunodeficiência/imunologia , Ativação Linfocitária/imunologia , Linfócitos T/imunologia , Cromossomo X , Antígenos de Fungos , Antígenos CD40/genética , Candida/imunologia , Concanavalina A , Criptosporidiose/imunologia , Toxoide Diftérico , Suscetibilidade a Doenças/imunologia , Humanos , Hipergamaglobulinemia/genética , Síndromes de Imunodeficiência/genética , Lectinas , Ligantes , Masculino , Fito-Hemaglutininas , Pneumonia por Pneumocystis/imunologia , Mitógenos de Phytolacca americana , Toxoide TetânicoRESUMO
The Wiskott-Aldrich syndrome is an X-linked primary immunodeficiency originally characterized by the clinical triad of thrombocytopenia, eczema, and immunodeficiency. We collected clinical and laboratory information on 154 unselected patients with Wiskott-Aldrich syndrome to define better the clinical expression of this disorder. The classic triad of thrombocytopenia with small platelets, recurrent otitis media, and eczema was seen in only 27% of the study population; 5% of the study population had only infectious manifestations, and 20% of the study group had only hematologic manifestations before diagnosis. The results of immunologic evaluations varied from one patient to another and the course of the disorder varied tremendously, even within a single kindred. We conclude that many patients with Wiskott-Aldrich syndrome have an atypical presentation and that a panel of diagnostic tests is often required to establish the diagnosis. Two high-risk subgroups were identified in the study population: patients with platelet counts < 10 x 10(9)/L (< 10,000/mm3) at the time of diagnosis were at high risk of bleeding, and patients with autoimmune disorders were at increased risk of having a malignancy.