IMD55
MCID: IMM190
MIFTS: 25

Immunodeficiency 55 (IMD55)

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

Aliases & Classifications for Immunodeficiency 55

MalaCards integrated aliases for Immunodeficiency 55:

Name: Immunodeficiency 55 57 12 72
Combined Immunodeficiency Due to Gins1 Deficiency 12 58 29 6
Imd55 57 12 72
Combined Immunodeficiency with Intrauterine Growth Retardation-Natural Killer Cell Deficiency-Neutropenia 58
Combined Immunodeficiency with Intrauterine Growth Retardation-Nk Cell Deficiency-Neutropenia 58
Cid Due to Gins1 Deficiency 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

31
immunodeficiency 55:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


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) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 55, is also known as combined immunodeficiency due to gins1 deficiency. An important gene associated with Immunodeficiency 55 is GINS1 (GINS Complex Subunit 1). Affiliated tissues include bone marrow, nk cells and bone, and related phenotypes are microcephaly and abnormal facial shape

Disease Ontology : 12 A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has material basis in homozygous or compound heterozygous mutation in GINS1 on chromosome 20p11.21.

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Immunodeficiency 55:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 abnormal facial shape 31 HP:0001999
3 short stature 31 HP:0004322
4 ichthyosis 31 HP:0008064
5 dry skin 31 HP:0000958
6 intrauterine growth retardation 31 HP:0001511
7 postnatal growth retardation 31 HP:0008897
8 myelodysplasia 31 HP:0002863
9 neutropenia 31 HP:0001875
10 eczema 31 HP:0000964
11 recurrent infections 31 HP:0002719
12 diarrhea 31 HP:0002014
13 lymphadenopathy 31 HP:0002716
14 recurrent skin infections 31 HP:0001581

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Growth Other:
intrauterine growth retardation
postnatal growth retardation

Respiratory:
recurrent infections

Head And Neck Head:
microcephaly (in some patients)

Skin Nails Hair Skin:
ichthyosis
dry skin
eczema
skin infections

Immunology:
myelodysplasia
neutropenia
lymphadenopathy
recurrent infections, viral and bacterial
nk cell deficiency
more
Abdomen Gastrointestinal:
diarrhea
gastroenteritis

Head And Neck Face:
dysmorphic facial features

Clinical features from OMIM®:

617827 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immunodeficiency 55

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 55

Genetic Tests for Immunodeficiency 55

Genetic tests related to Immunodeficiency 55:

# Genetic test Affiliating Genes
1 Combined Immunodeficiency Due to Gins1 Deficiency 29 GINS1

Anatomical Context for Immunodeficiency 55

MalaCards organs/tissues related to Immunodeficiency 55:

40
Bone Marrow, Nk Cells, Bone, Myeloid

Publications for Immunodeficiency 55

Articles related to Immunodeficiency 55:

# Title Authors PMID Year
1
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. 6 57
28414293 2017
2
Familial NK cell deficiency associated with impaired IL-2- and IL-15-dependent survival of lymphocytes. 57
17142786 2006
3
A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells. 57
14702466 2004

Variations for Immunodeficiency 55

ClinVar genetic disease variations for Immunodeficiency 55:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GINS1 NM_021067.5(GINS1):c.-48C>G SNV Pathogenic 487510 rs974304393 GRCh37: 20:25388409-25388409
GRCh38: 20:25407773-25407773
2 GINS1 GINS1, -60A-G SNV Pathogenic 487512 GRCh37:
GRCh38:
3 GINS1 NM_021067.5(GINS1):c.239+1G>T SNV Pathogenic 1028214 GRCh37: 20:25397839-25397839
GRCh38: 20:25417203-25417203
4 GINS1 NM_021067.5(GINS1):c.163C>T (p.Arg55Ter) SNV Pathogenic 1033970 GRCh37: 20:25397762-25397762
GRCh38: 20:25417126-25417126
5 GINS1 NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr) SNV Likely pathogenic 487513 rs376610445 GRCh37: 20:25422345-25422345
GRCh38: 20:25441709-25441709
6 GINS1 NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) SNV Likely pathogenic 487511 rs137901350 GRCh37: 20:25398748-25398748
GRCh38: 20:25418112-25418112
7 GINS1 NM_021067.5(GINS1):c.52delinsCA (p.Glu18fs) Indel Uncertain significance 976464 GRCh37: 20:25388508-25388508
GRCh38: 20:25407872-25407872
8 GINS1 NM_021067.5(GINS1):c.256C>T (p.Arg86Trp) SNV Uncertain significance 976466 GRCh37: 20:25398757-25398757
GRCh38: 20:25418121-25418121

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 55:

72
# Symbol AA change Variation ID SNP ID
1 GINS1 p.Arg83Cys VAR_080619 rs137901350
2 GINS1 p.Cys152Tyr VAR_080620 rs376610445

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....