has material basis in germline mutation in REL immunodeficiency disease immunodeficiency 92 https://github.com/monarch-initiative/mondo/issues/5261 https://www.malacards.org/card/immunodeficiency_92 IMD92 UMLS:C5562039 immunodeficiency due to REL deficiency An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative. MEDGEN:1794249 OMIM:619652 Orphanet:697394 DOID:0061062 MONDO:0030498