RS104894291 RAG1
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What This Variant Does
"V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spec...
Associated Conditions
Histiocytic medullary reticulosis
Severe combined immunodeficiency
autosomal recessive
T cell-negative
B cell-negative
NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis
Severe combined immunodeficiency
autosomal recessive
T cell-negative
B cell-negative
NK cell-positive
Combined immunodeficiency with skin granulomas
Other Variants in RAG1