Select item 354935 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ADA deficiency ADA-SCID Adenosine Deaminase Deficiency Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease (SCID) Adenosine deaminase deficient severe combined immunodeficiency SCID DUE TO ADA DEFICIENCY, EARLY-ONSET Severe combined immunodeficiency due to ADA deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Select item 321935 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive SCID, AR, T-cell negative, B-cell negative, NK cell-positive SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, RAG1/RAG2-Related Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive Select item 220906 X-linked severe combined immunodeficiency IMMUNODEFICIENCY 4 Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative T-B+ severe combined immunodeficiency due to gamma chain deficiency X-Linked Combined Immunodeficiency Diseases Select item 6146 Systemic lupus erythematosus Select item 1801019 Immunodeficiency 104 SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, CD3D-Related Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, CD3E-Related Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, IL7R-Related Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Select item 811535 Immunodeficiency 14 IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY Select item 332156 Susceptibility to HIV infection HIV-1, SUSCEPTIBILITY TO HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO Human immunodeficiency virus type 1, susceptibility to Select item 18009 Neural tube defect Select item 369590 Cernunnos-XLF deficiency NHEJ1 SYNDROME SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Select item 765548 Lymphoproliferative syndrome 1 Lymphoproliferative syndrome, EBV-associated, autosomal, 1 Select item 355454 Severe combined immunodeficiency due to DCLRE1C deficiency SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION Severe combined immunodeficiency with sensitivity to ionizing radiation Select item 347563 Celiac disease, susceptibility to, 3 Celiac disease 3 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3 Select item 151769 Hashimoto thyroiditis HASHIMOTO STRUMA HYPOTHYROIDISM, AUTOIMMUNE Hashimoto Disease Select item 863651 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Autoimmune lymphoproliferative syndrome 5 Autoimmune lymphoproliferative syndrome type V CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION Select item 767220 Autosomal dominant nocturnal frontal lobe epilepsy 5 CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS Epilepsy, nocturnal frontal lobe, 5 Select item 1770239 X-linked lymphoproliferative disease due to SH2D1A deficiency Duncan disease Duncan's syndrome EBV infection severe susceptibility to Epstein Barr virus infection familial fatal IMMUNODEFICIENCY 5 IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO Lymphoproliferative syndrome 1, X-linked Purtilo syndrome SH2D1A-Related Lymphoproliferative Disease, X-Linked Select item 767109 Developmental and epileptic encephalopathy, 14 Early infantile epileptic encephalopathy 14 Select item 816437 Combined immunodeficiency due to CD3gamma deficiency CD3-GAMMA DEFICIENCY Immunodeficiency 17 Immunodeficiency 17, CD3 gamma deficient SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE Select item 816477 Immunodeficiency 19 CD3-DELTA DEFICIENCY SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE Select item 96019 Hyper-IgM syndrome type 1 Hyper IgM immunodeficiency, X-linked Hyper-IgM Immunodeficiency Syndrome, Type 1 Immunodeficiency with hyper IgM type 1 X-linked hyper-IgM syndrome 
