MCID: IMM190
MIFTS: 19

Immunodeficiency 55

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 55

MalaCards integrated aliases for Immunodeficiency 55:

Name: Immunodeficiency 55 57 75 6
Imd55 57 75
Combined Immunodeficiency with Intrauterine Growth Retardation-Natural Killer Cell Deficiency-Neutropenia 59
Combined Immunodeficiency with Intrauterine Growth Retardation-Nk Cell Deficiency-Neutropenia 59
Combined Immunodeficiency Due to Gins1 Deficiency 59
Cid Due to Gins1 Deficiency 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 617827
Orphanet 59 ORPHA505227
MedGen 42 CN737162
MeSH 44 D007153

Summaries for Immunodeficiency 55

OMIM : 57 Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017). (617827)

MalaCards based summary : Immunodeficiency 55, is also known as imd55. An important gene associated with Immunodeficiency 55 is GINS1 (GINS Complex Subunit 1). Affiliated tissues include nk cells, skin and bone marrow.

UniProtKB/Swiss-Prot : 75 Immunodeficiency 55: An autosomal recessive primary immunodeficiency characterized by chronic neutropenia, natural killer cell deficiency, recurrent viral and bacterial infections, and intrauterine growth retardation. Postnatal growth retardation is present in most patients.

Related Diseases for Immunodeficiency 55

Symptoms & Phenotypes for Immunodeficiency 55

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Immunology:
myelodysplasia
neutropenia
lymphadenopathy
recurrent infections, viral and bacterial
nk cell deficiency
more
Respiratory:
recurrent infections

Head And Neck Head:
microcephaly (in some patients)

Skin Nails Hair Skin:
ichthyosis
dry skin
eczema
skin infections

Growth Other:
intrauterine growth retardation
postnatal growth retardation

Abdomen Gastrointestinal:
diarrhea
gastroenteritis

Head And Neck Face:
dysmorphic facial features


Clinical features from OMIM:

617827

Drugs & Therapeutics for Immunodeficiency 55

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 55

Genetic Tests for Immunodeficiency 55

Anatomical Context for Immunodeficiency 55

MalaCards organs/tissues related to Immunodeficiency 55:

41
Nk Cells, Skin, Bone Marrow, Bone, Myeloid

Publications for Immunodeficiency 55

Variations for Immunodeficiency 55

ClinVar genetic disease variations for Immunodeficiency 55:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GINS1 NM_021067.4(GINS1): c.-48C> G single nucleotide variant Pathogenic rs974304393 GRCh38 Chromosome 20, 25407773: 25407773
2 GINS1 NM_021067.4(GINS1): c.-48C> G single nucleotide variant Pathogenic rs974304393 GRCh37 Chromosome 20, 25388409: 25388409
3 GINS1 NM_021067.4(GINS1): c.247C> T (p.Arg83Cys) single nucleotide variant Pathogenic rs137901350 GRCh37 Chromosome 20, 25398748: 25398748
4 GINS1 NM_021067.4(GINS1): c.247C> T (p.Arg83Cys) single nucleotide variant Pathogenic rs137901350 GRCh38 Chromosome 20, 25418112: 25418112
5 GINS1 GINS1, -60A-G single nucleotide variant Pathogenic
6 GINS1 NM_021067.4(GINS1): c.455G> A (p.Cys152Tyr) single nucleotide variant Pathogenic rs376610445 GRCh37 Chromosome 20, 25422345: 25422345
7 GINS1 NM_021067.4(GINS1): c.455G> A (p.Cys152Tyr) single nucleotide variant Pathogenic rs376610445 GRCh38 Chromosome 20, 25441709: 25441709

Expression for Immunodeficiency 55

Search GEO for disease gene expression data for Immunodeficiency 55.

Pathways for Immunodeficiency 55

GO Terms for Immunodeficiency 55

Sources for Immunodeficiency 55

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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