Immunodeficiency 49 (IMD49)

Alias:

Imd49

Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, with Intellectual Disability, Spasticity, and Craniofacial Abnormalities

Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, with Intellectual Disability, Spasticity, and Craniofacial Abnormalities

Severe Combined Immunodeficiency, T-Cell Negative, B-Cell Positive, Nk Cell Positive, with Intellectual Disability, Spasticity, and Craniofacial Abnormalities

Scid, T-Cell Negative, B-Cell Positive, Nk Cell Positive, with Intellectual Disability, Spasticity, and Craniofacial Abnormalities

Scid, T-Cell-Negative, B-Cell-Positive, Nk-Cell-Positive, with Intellectual Disability, Spasticity, and Craniofacial Abnormalities

Immunodeficiency 49, Severe Combined

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 49, also known as imd49, is related to leukemia, acute myeloid and lymphoma, non-hodgkin, familial. An important gene associated with Immunodeficiency 49 is BCL11B (BCL11 Transcription Factor B), and among its related pathways/superpathways are Chemokine Superfamily: Human/Mouse Ligand-Receptor Interactions and Regulation of retinoblastoma protein. Affiliated tissues include t cells and bone marrow, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：IMM141

OMIM：617237

MESH：D016511