Severe combined immunodeficiency

Symptom Information:

Symptom ID: HPO:0004430
Synonyms:
Severe combined immune deficiency syndrome [Orphanet:47240]
Severe combined immunodeficiency disease (disorder) [Orphanet:47240]
Severe Combined Immunodeficiency [Orphanet:47240]
Severe combined immunodeficiency [OMIM:Severe combined immunodeficiency]
Severe combined immune deficiency syndrome/SCID [Orphanet:47240]
Severe combined immunodeficiency syndrome [Orphanet:47240]
Combined immunodeficiency [MedDRA:10010099]
Combined immunity deficiency [MedDRA:10010099]
Combined immunodeficiency syndrome [MedDRA:10010099]
Nezelof's syndrome [MedDRA:10010099]
Adenosine deaminase deficiency [MedDRA:10010099]
ADA deficiency [MedDRA:10010099]
Severe combined immunodeficiency syndrome [MedDRA:10010099]
Combined immunodeficiency (reported in 1 patient) [OMIM:Combined immunodeficiency (reported in 1 patient)]
Immunodeficiency, severe combined (in some patients) [OMIM:Immunodeficiency, severe combined (in some patients)]
Quality:
Cross references:
Orphanet:47240 "Severe combined immune deficiency syndrome/SCID" [Orphanet:47240]
OMIM: "Severe combined immunodeficiency" [OMIM:Severe combined immunodeficiency]
OMIM: "Combined immunodeficiency (reported in 1 patient)" [OMIM:Combined immunodeficiency (reported in 1 patient)]
OMIM: "Immunodeficiency, severe combined (in some patients)" [OMIM:Immunodeficiency, severe combined (in some patients)]
UMLS:C0085110 "Severe Combined Immunodeficiency" [Orphanet:47240]
Is a (Direct Parents):
MedDRA Primary immunodeficiency syndromes
Orphanet Recurrent bacterial infections
HPO         Combined immunodeficiency
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the immune system(HPO:0002715)
          Abnormality of immune system physiology(HPO:0010978)
             Immunodeficiency(HPO:0002721)
                Combined immunodeficiency(HPO:0005387)
                   Severe combined immunodeficiency(HPO:0004430)
MedDRA:
Immune system disorders(MedDRA:10021428)
    Immunodeficiency syndromes(MedDRA:10021460)
       Primary immunodeficiency syndromes(MedDRA:10036700)
          Severe combined immunodeficiency(HPO:0004430)
Database Frequency: 16 / 7739
Resource:

All diseases associated with this symptom:

Absent thumb - short stature - immunodeficiency (Orphanet:2951)
Combined immunodeficiency T+ B+ due to partial RAG1 deficiency (Orphanet:231154)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
LIG4 syndrome (Orphanet:99812)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Multiple intestinal atresia (Orphanet:2300)
Omenn syndrome (Orphanet:39041)
Reticular dysgenesis (Orphanet:33355)
Severe combined immunodeficiency (Orphanet:183660)
Severe combined immunodeficiency due to DCLRE1C deficiency (Orphanet:275)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Severe combined immunodeficiency due to complete RAG1/2 deficiency (Orphanet:331206)
Short-limb skeletal dysplasia with severe combined immunodeficiency (Orphanet:935)
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency (Orphanet:169154)
T-B+ severe combined immunodeficiency due to JAK3 deficiency (Orphanet:35078)
T-B+ severe combined immunodeficiency due to gamma chain deficiency (Orphanet:276)