Immunodeficiency 54 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: IMM177 MIFTS: 22	Immunodeficiency 54 Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases, Endocrine diseases
Genes Variations Tissues Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Other immunodeficiencies

Other specified immunodeficiencies

Orphanet: ⁵⁹

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 609981

Orphanet ⁵⁹ ORPHA75391

ICD10 via Orphanet ³⁴ D84.8

MedGen ⁴² C1864947

MeSH ⁴⁴ D000309 D007153 D049914

SNOMED-CT via HPO ⁶⁹ 258211005 271611007 111563005 more

UMLS ⁷³ C1864947

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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.

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Related Diseases for Immunodeficiency 54

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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

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Drugs & Therapeutics for Immunodeficiency 54

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 54

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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

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Anatomical Context for Immunodeficiency 54

MalaCards organs/tissues related to Immunodeficiency 54:

⁴¹

Nk Cells, Lung

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Publications for Immunodeficiency 54

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Genes for Immunodeficiency 54

Genes related to Immunodeficiency 54 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MCM4	Minichromosome Maintenance Complex Component 4	Protein Coding	1350	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹	22354167 16532402 22354170 (more) 22499342

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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

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Expression for Immunodeficiency 54

Search GEO for disease gene expression data for Immunodeficiency 54.

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Pathways for Immunodeficiency 54

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GO Terms for Immunodeficiency 54

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Sources for Immunodeficiency 54

¹ BioSystems

² BitterDB

³ CDC

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

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³¹ HMDB

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

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⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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⁴⁸ NCBI Bookshelf

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⁵² NIH Clinical Center

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia