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Immunodeficiency 104

MONDO:0012163

A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.

Also known as: IMD104, autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID, severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive, SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive

16 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Immune system disorder (140) Immunodeficiency disease (48) Severe combined immunodeficiency (21) Human disease (14) Combined immunodeficiency (3) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 11 Completed 4 Terminated 1
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