Severe combined immunodeficiency T- B+ due to JAK3 deficiency (Q97588): Difference between revisions
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Imunodeficiência combinada grave T- B+ devida à deficiência de JAK3 é uma forma autossômica recessiva de imunodeficiência combinada grave (IDCG). É caracterizada por ausência de células T e NK (Natural Killer) circulantes e níveis normais de linfócitos B. Pacientes com deficiência de JAK3 manifestam o quadro clássico da IDCG nos poucos meses iniciais de vida, ou seja, diarreia crônica, falha no crescimento, infecção respiratória rescorrente e/ou infecção generalizada por patógenos oportunistas, ou sinais de reação enxerto-versus-hospedeiro (erupção cutânea, alteração de função hepática, pancitopenia) por células T maternas adquiridas por via transplacentária. | |||
| description / en | description / en | ||
Severe combined immunodeficiency T- B+ due to JAK3 deficiency is an autosomal recessive form of severe combined immune deficiency (SCID). It is characterised by lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. JAK3-deficient patients present with the classical clinical features of SCID in the first few months of life, i.e. chronic diarrhoea, failure to thrive, recurrent respiratory infection and/or generalised infections from opportunistic pathogens, or signs of graft-versus-host reaction (skin rash, abnormalities of liver function, pancytopenia) from transplacental acquired maternal T cells. | |||
Revision as of 13:42, 16 August 2026
Severe combined immunodeficiency T- B+ due to JAK3 deficiency is an autosomal recessive form of severe combined immune deficiency (SCID). It is characterised by lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. JAK3-deficient patients present with the classical clinical features of SCID in the first few months of life, i.e. chronic diarrhoea, failure to thrive, recurrent respiratory infection and/or generalised infections from opportunistic pathogens, or signs of graft-versus-host reaction (skin rash, abnormalities of liver function, pancytopenia) from transplacental acquired maternal T cells.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1845332026 |
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| English | Severe combined immunodeficiency T- B+ due to JAK3 deficiency |
Severe combined immunodeficiency T- B+ due to JAK3 deficiency is an autosomal recessive form of severe combined immune deficiency (SCID). It is characterised by lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. JAK3-deficient patients present with the classical clinical features of SCID in the first few months of life, i.e. chronic diarrhoea, failure to thrive, recurrent respiratory infection and/or generalised infections from opportunistic pathogens, or signs of graft-versus-host reaction (skin rash, abnormalities of liver function, pancytopenia) from transplacental acquired maternal T cells. |
