Omenn syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA
RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA
Combined immunodeficiency with hypereosinophilia
Number of Symptoms 52
OrphanetNr: 39041
OMIM Id: 603554
ICD-10: D81.8
UMLs:
MeSH:
MedDRA: 10069097
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0000100) Nephrotic syndrome Occasional [Orphanet] 83 / 7739
2
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
3
 (HPO:0100646) Thyroiditis Occasional [Orphanet] 11 / 7739
4
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
5
 (HPO:0000944) Abnormality of the metaphyses Occasional [Orphanet] 141 / 7739
6
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
7
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
8
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
9
 (HPO:0002014) Diarrhea 225 / 7739
10
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
11
 (HPO:0001508) Failure to thrive 454 / 7739
12
 (HPO:0001019) Erythroderma 24 / 7739
13
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
14
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
15
 (HPO:0001072) Thickened skin Frequent [Orphanet] 87 / 7739
16
 (HPO:0000989) Pruritus Frequent [Orphanet] 111 / 7739
17
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
18
 (HPO:0001805) Thick nail Occasional [Orphanet] 96 / 7739
19
 (HPO:0001974) Leukocytosis Frequent [Orphanet] 33 / 7739
20
 (HPO:0005365) Severe B lymphocytopenia 3 / 7739
21
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
22
 (HPO:0001873) Thrombocytopenia 224 / 7739
23
 (HPO:0001879) Abnormality of eosinophils Frequent [Orphanet] 20 / 7739
24
 (HPO:0010976) B lymphocytopenia 8 / 7739
25
 (HPO:0002665) Lymphoma Occasional [Orphanet] 60 / 7739
26
 (HPO:0001880) Eosinophilia 35 / 7739
27
 (HPO:0004332) Abnormality of lymphocytes Very frequent [Orphanet] 12 / 7739
28
 (HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
29
 (HPO:0000969) Edema Frequent [Orphanet] 117 / 7739
30
 (HPO:0003075) Hypoproteinemia 27 / 7739
31
 (HPO:0002090) Pneumonia 59 / 7739
32
 (HPO:0000778) Hypoplasia of the thymus 13 / 7739
33
 (HPO:0002716) Lymphadenopathy Very frequent [Orphanet] 129 / 7739
34
 (HPO:0100806) Sepsis Occasional [Orphanet] 48 / 7739
35
 (HPO:0004430) Severe combined immunodeficiency Very frequent [Orphanet] 16 / 7739
36
 (HPO:0002960) Autoimmunity Occasional [Orphanet] 78 / 7739
37
 (HPO:0004429) Recurrent viral infections 20 / 7739
38
 (HPO:0002841) Recurrent fungal infections 16 / 7739
39
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
40
 (OMIM) Variable (often increased) number of activated CD45RO+, DR+ circulating T cells 1 / 7739
41
 (OMIM) Poor proliferative response of T lymphocytes to specific antigens 1 / 7739
42
 (OMIM) Lymph node architecture severely altered: lack of follicles, depletion of lymphocytes, and increased proportion of interdigitating reticular cells and eosinophils 1 / 7739
43
 (OMIM) Very low B cells 1 / 7739
44
 (OMIM) Increased frequency of bacterial, viral, and fungal infections 1 / 7739
45
 (OMIM) Very low IgA 1 / 7739
46
 (OMIM) Lymphocytic infiltrates with occasional histiocytes and eosinophils 1 / 7739
47
 (OMIM) Hypoplastic thymus which often lacks Hassal corpuscles 1 / 7739
48
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
49
 (OMIM) Very low IgG 1 / 7739
50
 (OMIM) Increased IgE 1 / 7739
51
 (OMIM) Very low IgM 1 / 7739
52
 (OMIM) Defect in V(D)J recombination process 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Omenn (1965) described reticuloendotheliosis with eosinophilia in several individuals in related sibships from an inbred American family of Irish extraction. Barth et al. (1972) concluded that the familial reticuloendotheliosis with eosinophilia described by Omenn is a distinct entity. ...
Molecular genetics OMIM Villa et al. (1998) reported that patients with Omenn syndrome had missense mutations in either the RAG1 (179615.0001-179615.0013) or the RAG2 (179616.0003; 179616.0004) gene that result in partial activity of the 2 proteins. Two of the amino acid ...