Disease #02806

Official abbreviation -
Name Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
OMIM ID 608971
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 2 genes IL7R, PTPRC
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00148287 - - - F yes Turkey - 00y06m 0 - HSCT Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive nude severe T-cell immunodeficiency with normal B and NK cells, thymus dysgenesis, congenital alopecia and nail dystrophy FOXN1 FOXN1 1 2 Sinem Firtina
00150107 - - - M yes Turkey Turkısh 01y 0 - - Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive - JAK3 JAK3 1 1 Sinem Firtina
00150111 - - - M yes Turkey Turkısh 00y09m 0 - - Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive RAG2 RAG2 1 1 Sinem Firtina
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