MCID: IMM177
MIFTS: 22

Immunodeficiency 54

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

Aliases & Classifications for Immunodeficiency 54

MalaCards integrated aliases for Immunodeficiency 54:

Name: Immunodeficiency 54 57
Natural Killer Cell and Glucocorticoid Deficiency with Dna Repair Defect 57 75 29 13 6 40
Natural Killer Cell Deficiency, Familial Isolated 57 73
Nkgcd 57 75
Nkcd 57 75
Primary Immunodeficiency with Natural-Killer Cell Deficiency and Adrenal Insufficiency 59
Natural Killer Cell and Glucocorticoid Deficiency with Dna Repair Defect; Nkgcd 57
Natural Killer Cell Deficiency, Familial Isolated; Nkcd 57
Familial Isolated Natural Killer Cell Deficiency 75
Primary Immunodeficiency Due to Mcm4 Deficiency 59
Imd54 57

Characteristics:

Orphanet epidemiological data:

59
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
growth retardation onset in utero
glucocorticoid deficiency occurs in mid-childhood
founder effect in irish traveler population


HPO:

32
immunodeficiency 54:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


Summaries for Immunodeficiency 54

OMIM : 57 Immunodeficiency-54 is an autosomal recessive primary immunodeficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer (NK) cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. Laboratory studies of patient cells showed a DNA repair defect (summary by Gineau et al., 2012). (609981)

MalaCards based summary : Immunodeficiency 54, is also known as natural killer cell and glucocorticoid deficiency with dna repair defect. An important gene associated with Immunodeficiency 54 is MCM4 (Minichromosome Maintenance Complex Component 4). Affiliated tissues include nk cells and lung, and related phenotypes are global developmental delay and splenomegaly

UniProtKB/Swiss-Prot : 75 Natural killer cell and glucocorticoid deficiency with DNA repair defect: An autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer.

Related Diseases for Immunodeficiency 54

Symptoms & Phenotypes for Immunodeficiency 54

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Abdomen Liver:
hepatomegaly

Growth Other:
intrauterine growth retardation
postnatal growth retardation
poor overall growth

Endocrine Features:
adrenal insufficiency
corticosteroid deficiency

Laboratory Abnormalities:
increased acth
cell studies show increased dna breakage

Neurologic Central Nervous System:
delayed cognitive development, mild (reported in 1 family)

Respiratory:
recurrent respiratory infections
respiratory failure (in some patients)

Head And Neck Head:
microcephaly

Immunology:
lymphadenopathy
recurrent viral infections
decreased numbers of circulating nk cells (less than 5%)

Skin Nails Hair Skin:
hyperpigmentation

Respiratory Lung:
lung fibrosis

Neoplasia:
increased susceptibility to cancer
lymphoproliferative disorders


Clinical features from OMIM:

609981

Human phenotypes related to Immunodeficiency 54:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 splenomegaly 32 HP:0001744
3 recurrent respiratory infections 32 HP:0002205
4 hepatomegaly 32 HP:0002240
5 microcephaly 32 HP:0000252
6 intrauterine growth retardation 32 HP:0001511
7 postnatal growth retardation 32 HP:0008897
8 respiratory failure 32 occasional (7.5%) HP:0002878
9 lymphadenopathy 32 HP:0002716
10 recurrent viral infections 32 HP:0004429
11 adrenal insufficiency 32 HP:0000846
12 lymphoproliferative disorder 32 HP:0005523

Drugs & Therapeutics for Immunodeficiency 54

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 54

Genetic Tests for Immunodeficiency 54

Genetic tests related to Immunodeficiency 54:

# Genetic test Affiliating Genes
1 Natural Killer Cell and Glucocorticoid Deficiency with Dna Repair Defect 29 MCM4

Anatomical Context for Immunodeficiency 54

MalaCards organs/tissues related to Immunodeficiency 54:

41
Nk Cells, Lung

Publications for Immunodeficiency 54

Variations for Immunodeficiency 54

ClinVar genetic disease variations for Immunodeficiency 54:

6
(show top 50) (show all 137)
# Gene Variation Type Significance SNP ID Assembly Location
1 MCM4 MCM4, IVS1AS, A-G, -2 single nucleotide variant Pathogenic
2 MCM4 NM_005914.3(MCM4): c.-721dupT duplication Uncertain significance rs886062967 GRCh37 Chromosome 8, 48872984: 48872984
3 MCM4 NM_005914.3(MCM4): c.-721dupT duplication Uncertain significance rs886062967 GRCh38 Chromosome 8, 47960424: 47960424
4 MCM4 NM_005914.3(MCM4): c.-701C> A single nucleotide variant Uncertain significance rs886062968 GRCh37 Chromosome 8, 48873004: 48873004
5 MCM4 NM_005914.3(MCM4): c.-701C> A single nucleotide variant Uncertain significance rs886062968 GRCh38 Chromosome 8, 47960444: 47960444
6 MCM4 NM_005914.3(MCM4): c.-453T> C single nucleotide variant Uncertain significance rs539732672 GRCh37 Chromosome 8, 48873252: 48873252
7 MCM4 NM_005914.3(MCM4): c.-453T> C single nucleotide variant Uncertain significance rs539732672 GRCh38 Chromosome 8, 47960692: 47960692
8 MCM4 NM_005914.3(MCM4): c.-372G> A single nucleotide variant Uncertain significance rs17334298 GRCh37 Chromosome 8, 48873333: 48873333
9 MCM4 NM_005914.3(MCM4): c.-372G> A single nucleotide variant Uncertain significance rs17334298 GRCh38 Chromosome 8, 47960773: 47960773
10 MCM4 NM_005914.3(MCM4): c.-347C> A single nucleotide variant Uncertain significance rs886062970 GRCh37 Chromosome 8, 48873358: 48873358
11 MCM4 NM_005914.3(MCM4): c.-347C> A single nucleotide variant Uncertain significance rs886062970 GRCh38 Chromosome 8, 47960798: 47960798
12 MCM4 NM_005914.3(MCM4): c.-320dupC duplication Uncertain significance rs886062971 GRCh37 Chromosome 8, 48873385: 48873385
13 MCM4 NM_005914.3(MCM4): c.-320dupC duplication Uncertain significance rs886062971 GRCh38 Chromosome 8, 47960825: 47960825
14 MCM4 NM_005914.3(MCM4): c.-253C> T single nucleotide variant Uncertain significance rs17334305 GRCh38 Chromosome 8, 47960892: 47960892
15 MCM4 NM_005914.3(MCM4): c.-253C> T single nucleotide variant Uncertain significance rs17334305 GRCh37 Chromosome 8, 48873452: 48873452
16 MCM4 NM_005914.3(MCM4): c.236-4A> G single nucleotide variant Likely benign rs2305952 GRCh37 Chromosome 8, 48874609: 48874609
17 MCM4 NM_005914.3(MCM4): c.236-4A> G single nucleotide variant Likely benign rs2305952 GRCh38 Chromosome 8, 47962049: 47962049
18 MCM4 NM_005914.3(MCM4): c.715A> G (p.Met239Val) single nucleotide variant Uncertain significance rs752863422 GRCh37 Chromosome 8, 48877155: 48877155
19 MCM4 NM_005914.3(MCM4): c.715A> G (p.Met239Val) single nucleotide variant Uncertain significance rs752863422 GRCh38 Chromosome 8, 47964595: 47964595
20 MCM4 NM_005914.3(MCM4): c.891C> T (p.Pro297=) single nucleotide variant Uncertain significance rs148576543 GRCh37 Chromosome 8, 48878805: 48878805
21 MCM4 NM_005914.3(MCM4): c.891C> T (p.Pro297=) single nucleotide variant Uncertain significance rs148576543 GRCh38 Chromosome 8, 47966245: 47966245
22 MCM4 NM_005914.3(MCM4): c.1209A> G (p.Pro403=) single nucleotide variant Uncertain significance rs17287656 GRCh37 Chromosome 8, 48882392: 48882392
23 MCM4 NM_005914.3(MCM4): c.1209A> G (p.Pro403=) single nucleotide variant Uncertain significance rs17287656 GRCh38 Chromosome 8, 47969832: 47969832
24 MCM4 NM_005914.3(MCM4): c.1569G> A (p.Val523=) single nucleotide variant Uncertain significance rs765660789 GRCh37 Chromosome 8, 48883205: 48883205
25 MCM4 NM_005914.3(MCM4): c.1569G> A (p.Val523=) single nucleotide variant Uncertain significance rs765660789 GRCh38 Chromosome 8, 47970645: 47970645
26 MCM4 NM_005914.3(MCM4): c.1829G> A (p.Arg610His) single nucleotide variant Uncertain significance rs151044076 GRCh37 Chromosome 8, 48883929: 48883929
27 MCM4 NM_005914.3(MCM4): c.1829G> A (p.Arg610His) single nucleotide variant Uncertain significance rs151044076 GRCh38 Chromosome 8, 47971369: 47971369
28 MCM4 NM_005914.3(MCM4): c.*125A> G single nucleotide variant Uncertain significance rs886062979 GRCh38 Chromosome 8, 47976903: 47976903
29 MCM4 NM_005914.3(MCM4): c.*125A> G single nucleotide variant Uncertain significance rs886062979 GRCh37 Chromosome 8, 48889463: 48889463
30 MCM4 NM_005914.3(MCM4): c.*358T> C single nucleotide variant Likely benign rs17287761 GRCh37 Chromosome 8, 48889696: 48889696
31 MCM4 NM_005914.3(MCM4): c.*358T> C single nucleotide variant Likely benign rs17287761 GRCh38 Chromosome 8, 47977136: 47977136
32 MCM4 NM_005914.3(MCM4): c.*507delA deletion Benign rs34372744 GRCh37 Chromosome 8, 48889845: 48889845
33 MCM4 NM_005914.3(MCM4): c.*507delA deletion Benign rs34372744 GRCh38 Chromosome 8, 47977285: 47977285
34 MCM4 NM_005914.3(MCM4): c.*871G> A single nucleotide variant Uncertain significance rs192670035 GRCh37 Chromosome 8, 48890209: 48890209
35 MCM4 NM_005914.3(MCM4): c.*871G> A single nucleotide variant Uncertain significance rs192670035 GRCh38 Chromosome 8, 47977649: 47977649
36 MCM4 NM_005914.3(MCM4): c.*1134A> C single nucleotide variant Uncertain significance rs11553127 GRCh37 Chromosome 8, 48890472: 48890472
37 MCM4 NM_005914.3(MCM4): c.*1134A> C single nucleotide variant Uncertain significance rs11553127 GRCh38 Chromosome 8, 47977912: 47977912
38 MCM4 NM_005914.3(MCM4): c.-646delG deletion Uncertain significance rs886062969 GRCh37 Chromosome 8, 48873059: 48873059
39 MCM4 NM_005914.3(MCM4): c.-646delG deletion Uncertain significance rs886062969 GRCh38 Chromosome 8, 47960499: 47960499
40 MCM4 NM_005914.3(MCM4): c.-501A> G single nucleotide variant Uncertain significance rs570195176 GRCh37 Chromosome 8, 48873204: 48873204
41 MCM4 NM_005914.3(MCM4): c.-501A> G single nucleotide variant Uncertain significance rs570195176 GRCh38 Chromosome 8, 47960644: 47960644
42 MCM4 NM_005914.3(MCM4): c.-473G> A single nucleotide variant Uncertain significance rs537563295 GRCh37 Chromosome 8, 48873232: 48873232
43 MCM4 NM_005914.3(MCM4): c.-473G> A single nucleotide variant Uncertain significance rs537563295 GRCh38 Chromosome 8, 47960672: 47960672
44 MCM4 NM_005914.3(MCM4): c.-407G> A single nucleotide variant Uncertain significance rs546045069 GRCh37 Chromosome 8, 48873298: 48873298
45 MCM4 NM_005914.3(MCM4): c.-407G> A single nucleotide variant Uncertain significance rs546045069 GRCh38 Chromosome 8, 47960738: 47960738
46 MCM4 NM_005914.3(MCM4): c.-164G> T single nucleotide variant Uncertain significance rs886062972 GRCh37 Chromosome 8, 48873541: 48873541
47 MCM4 NM_005914.3(MCM4): c.-164G> T single nucleotide variant Uncertain significance rs886062972 GRCh38 Chromosome 8, 47960981: 47960981
48 MCM4 NM_005914.3(MCM4): c.-64G> A single nucleotide variant Uncertain significance rs886062973 GRCh37 Chromosome 8, 48873641: 48873641
49 MCM4 NM_005914.3(MCM4): c.-64G> A single nucleotide variant Uncertain significance rs886062973 GRCh38 Chromosome 8, 47961081: 47961081
50 MCM4 NM_005914.3(MCM4): c.-55C> T single nucleotide variant Likely benign rs577633841 GRCh37 Chromosome 8, 48873650: 48873650

Expression for Immunodeficiency 54

Search GEO for disease gene expression data for Immunodeficiency 54.

Pathways for Immunodeficiency 54

GO Terms for Immunodeficiency 54

Sources for Immunodeficiency 54

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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