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Parent Node:
expandSevere Combined Immunodeficiency (D016511)
..Starting node
..expandSevere Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive (C563822)

       Child Nodes:



 Sister Nodes: 
..expandAthabaskan severe combined immunodeficiency (C536786)
..expandBare lymphocyte syndrome 2 (C537079)
..expandBare Lymphocyte Syndrome, Type I (C565759)
..expandBare Lymphocyte Syndrome, Type II, Complementation Group A (C565910)
..expandCombined Cellular And Humoral Immune Defects With Granulomas (C567115)
..expandHLA class 1 deficiency (C538465)
..expandImmune dysfunction with T-cell inactivation due to calcium entry defect 1 (C557826)
..expandImmune dysfunction with T-cell inactivation due to calcium entry defect 2 (C557827)
..expandReticular dysgenesis (C538361)
..expandReticuloendotheliosis, familial, with eosinophilia (C538564)
..expandReticuloendotheliosis, X-linked (C538362)
..expandSevere combined immunodeficiency due to adenosine deaminase deficiency (C531816)
..expandSevere Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
..expandSevere combined immunodeficiency with sensitivity to ionizing radiation (C537589)
..expandSevere combined immunodeficiency, atypical (C537590)
..expandSevere Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive (C563822)
..expandSevere Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative (C563440)
..expandShort-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency (C565984)
..expandT-cell immunodeficiency, congenital alopecia and nail dystrophy (C536781)
..expandX-Linked Combined Immunodeficiency Diseases (D053632) Child1
..expandZAP70 deficiency (C536722)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10153
Name:Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Definition:
Alternative IDs:OMIM:608971
ParentIDs:MESH:D016511
TreeNumbers:C16.614.815/C563822 |C18.452.284.800/C563822 |C20.673.815/C563822
Synonyms:SCID, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive |SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE |SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-P
Slim Mappings:Immune system disease|Infant-newborn disease|Metabolic disease
Reference: MedGen: C563822
MeSH: C563822
OMIM: 608971;

Genes: IL7R; PTPRC;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002014Diarrhea
3 HP:0000964Eczema
4 HP:0008866Failure to thrive secondary to recurrent infections
5 HP:0002240Hepatomegaly
6 HP:0002716Lymphadenopathy
7 HP:0000155Oral ulcer
8 HP:0000388Otitis media
9 HP:0005390Recurrent opportunistic infections
10 HP:0004430Severe combined immunodeficiency
11 HP:0001744Splenomegaly
12 HP:0005403T lymphocytopenia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_002185.3(IL7R):c.197T>C (p.Ile66Thr)3575IL7RPathogenic1494558RCV000015964; RCV000121212; NMedGen:C1837028,OMIM:608971; MedGen:CN16937453586106835861068NM_002185.3:c.197T>CNP_002176.2:p.Ile66ThrNC_000005.9:g.35861068T>COMIM Allelic Variant:146661.0001CN169374 not specified; C1837028 608971 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
NC_000005.9:g.(35862009_35867357)_(35867581_35867620)del3575IL7RPathogenic-1RCV000210429; NMedGen:C1837028,OMIM:60897153586200935867620---C1837028 608971 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
NM_002185.3(IL7R):c.361dupA (p.Ile121Asnfs)3575IL7RPathogenic869312857RCV000210421; NMedGen:C1837028,OMIM:60897153586754735867547NM_002185.3:c.361dupANP_002176.2:p.Ile121AsnfsNC_000005.9:g.35867547dupA-C1837028 608971 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
NM_002185.3(IL7R):c.394C>T (p.Pro132Ser)3575IL7RPathogenic104893894RCV000015968; NMedGen:C1837028,OMIM:60897153587117235871172NM_002185.3:c.394C>TNP_002176.2:p.Pro132SerNC_000005.9:g.35871172C>TOMIM Allelic Variant:146661.0005C1837028 608971 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
NM_002185.3(IL7R):c.412G>A (p.Val138Ile)3575IL7RPathogenic1494555RCV000015965; RCV000121214; NMedGen:C1837028,OMIM:608971; MedGen:CN16937453587119035871190NM_002185.3:c.412G>ANP_002176.2:p.Val138IleNC_000005.9:g.35871190G>AOMIM Allelic Variant:146661.0002CN169374 not specified; C1837028 608971 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
NM_002185.3(IL7R):c.651G>A (p.Trp217Ter)3575IL7RPathogenic104893893RCV000015967; NMedGen:C1837028,OMIM:60897153587369535873695NM_002185.3:c.651G>ANP_002176.2:p.Trp217TerNC_000005.9:g.35873695G>AOMIM Allelic Variant:146661.0004C1837028 608971 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
NM_002838.4(PTPRC):c.1624A>T (p.Lys542Ter)5788PTPRCPathogenic398122383RCV000054517; NMedGen:C1837028,OMIM:6089711198687396198687396NM_002838.4:c.1624A>TNP_002829.3:p.Lys542TerNC_000001.10:g.198687396A>TOMIM Allelic Variant:151460.0004C1837028 608971 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive