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

IMD54 MCID: IMM177 MIFTS: 44	Immunodeficiency 54 (IMD54) Categories: Blood diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Immunodeficiency 54

MalaCards integrated aliases for Immunodeficiency 54:

Name: Immunodeficiency 54 ⁵⁷ ¹² ⁷² ¹⁵

Natural Killer Cell and Glucocorticoid Deficiency with Dna Repair Defect ⁵⁷ ⁷² ²⁹ ¹³ ⁶ ³⁹

Natural Killer Cell Deficiency, Familial Isolated ⁵⁷ ⁴⁴ ⁷⁰

Imd54 ⁵⁷ ¹² ⁷²

Nkcd ⁵⁷ ¹² ⁷²

Primary Immunodeficiency with Natural-Killer Cell Deficiency and Adrenal Insufficiency ¹² ⁵⁸

Familial Isolated Natural Killer Cell Deficiency ¹² ⁷²

Primary Immunodeficiency Due to Mcm4 Deficiency ¹² ⁵⁸

Nkgcd ⁵⁷ ⁷²

Natural Killer Cell and Glucocorticoid Deficiency with Dna Repair Defect; Nkgcd ⁵⁷

Natural Killer Cell Deficiency, Familial Isolated; Nkcd ⁵⁷

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

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

HPO:

³¹

immunodeficiency 54:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Infectious diseases
Anatomical: Blood diseases Immune diseases Respiratory diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³

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: ⁵⁸

Rare immunological diseases

External Ids:

Disease Ontology ¹² DOID:0111967

OMIM® ⁵⁷ 609981

OMIM Phenotypic Series ⁵⁷ PS300755

MeSH ⁴⁴ C566492 D000309 D007153 more

NCIt ⁵⁰ C123729

ICD10 via Orphanet ³³ D84.8

Orphanet ⁵⁸ ORPHA75391

MedGen ⁴¹ C1864947

SNOMED-CT via HPO ⁶⁸ 111563005 16294009 199612005 more

UMLS ⁷⁰ 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) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 54, also known as natural killer cell and glucocorticoid deficiency with dna repair defect, is related to esophageal neuroendocrine tumor and ovarian large-cell neuroendocrine carcinoma. An important gene associated with Immunodeficiency 54 is MCM4 (Minichromosome Maintenance Complex Component 4), and among its related pathways/superpathways are Innate Immune System and Allograft rejection. Affiliated tissues include nk cells and lung, and related phenotypes are respiratory failure and global developmental delay

Disease Ontology : ¹² An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has material basis in homozygous or compound heterozygous mutation in MCM4 on chromosome 8q11.21.

UniProtKB/Swiss-Prot : ⁷² Immunodeficiency 54: 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

Diseases related to Immunodeficiency 54 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)

#	Related Disease	Score	Top Affiliating Genes
1	esophageal neuroendocrine tumor	10.1	NCAM1 CHL1
2	ovarian large-cell neuroendocrine carcinoma	10.1	NCAM1 CHL1
3	trichohepatoenteric syndrome 1	10.0	NCR1 MCM4 KLRD1
4	glomangiomatosis	10.0	NCAM1 B3GAT1
5	breast neuroendocrine neoplasm	10.0	NCAM1 B3GAT1
6	immunodeficiency 21	10.0	NCAM1 MCM4
7	cellular ependymoma	9.9	NCAM1 EGFR
8	lethal midline granuloma	9.9	PRF1 NCAM1
9	aggressive nk-cell leukemia	9.9	NCAM1 KLRD1 B3GAT1
10	nasal cavity lymphoma	9.9	PRF1 NCAM1
11	immunodeficiency 63 with lymphoproliferation and autoimmunity	9.9	IL15 B3GAT1
12	lymphoproliferative syndrome 1	9.8	PRF1 NCAM1
13	inflammatory bowel disease 28	9.8	IRF1 IL15
14	ceftazidime allergy	9.8	KLRD1 KLRC2 IL15
15	large cell neuroendocrine carcinoma	9.8	NCAM1 EGFR
16	t-cell large granular lymphocyte leukemia	9.6	NCAM1 KLRK1 KLRD1 B3GAT1
17	coccidiosis	9.6	PRF1 IL15
18	gastrointestinal stromal tumor	9.5	NCAM1 EGFR B3GAT1
19	viral infectious disease	9.4	NCR1 KLRK1 IRF1 IL15
20	behcet syndrome	9.4	PRF1 KLRK1 IL15
21	chronic nk-cell lymphocytosis	9.3	NCR1 NCAM1 KLRD1 IL15 B3GAT1
22	myeloma, multiple	9.2	NCAM1 KLRK1 IL15 EGFR
23	celiac disease 1	8.7	PRF1 NCAM1 KLRK1 KLRD1 KLRC2 IRF1
24	nk cell deficiency	8.6	PRF1 NCR1 NCAM1 MCM4 KLRK1 KLRD1
25	leukemia, acute myeloid	8.5	PRF1 NCR1 NCAM1 KLRK1 KLRD1 KLRC2

Graphical network of the top 20 diseases related to Immunodeficiency 54:

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Symptoms & Phenotypes for Immunodeficiency 54

Human phenotypes related to Immunodeficiency 54:

³¹ (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	respiratory failure ³¹	occasional (7.5%)	HP:0002878
2	global developmental delay ³¹		HP:0001263
3	splenomegaly ³¹		HP:0001744
4	hepatomegaly ³¹		HP:0002240
5	recurrent respiratory infections ³¹		HP:0002205
6	microcephaly ³¹		HP:0000252
7	intrauterine growth retardation ³¹		HP:0001511
8	postnatal growth retardation ³¹		HP:0008897
9	lymphadenopathy ³¹		HP:0002716
10	adrenal insufficiency ³¹		HP:0000846
11	recurrent viral infections ³¹		HP:0004429
12	lymphoproliferative disorder ³¹		HP:0005523

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Abdomen Spleen:
splenomegaly

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

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)

Abdomen Liver:
hepatomegaly

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 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 54 according to GeneCards Suite gene sharing:

²⁶ (show all 25)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-113	9.72	KLRC2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.72	KLRC2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.72	KLRK1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	9.72	KLRK1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-127	9.72	KLRK1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.72	NCR1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-145	9.72	KLRC2
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-146	9.72	KLRC2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	9.72	KLRK1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-158	9.72	NCR1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-163	9.72	KLRC2
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	9.72	KLRK1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-17	9.72	KLRK1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-171	9.72	KLRK1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-175	9.72	KLRK1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.72	KLRC2
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-179	9.72	KLRK1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-191	9.72	KLRC2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-204	9.72	KLRC2
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-207	9.72	KLRK1
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	9.72	KLRC2
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.72	KLRK1
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	9.72	KLRC2
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-66	9.72	NCR1
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-98	9.72	NCR1

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Drugs & Therapeutics for Immunodeficiency 54

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	The Natural Killer Cells Regulatory Role Against Hepatic Fibrosis Following Bariatric Surgery	Unknown status	NCT02732535

Search NIH Clinical Center for Immunodeficiency 54

Cochrane evidence based reviews: natural killer cell deficiency, familial isolated

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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:

⁴⁰

Nk Cells, Lung

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Publications for Immunodeficiency 54

Articles related to Immunodeficiency 54:

#	Title	Authors	PMID	Year
1	Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair. ⁵⁷ ⁶	Casey JP...Ennis S	22499342	2012
2	Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. ⁵⁷ ⁶	Gineau L...Jouanguy E	22354167	2012
3	MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. ⁵⁷ ⁶	Hughes CR...Metherell LA	22354170	2012
4	A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8. ⁶ ⁵⁷	Eidenschenk C...Feighery C	16532402	2006
5	A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. ⁵⁷	O'Riordan SM...Costigan C	18430777	2008
6	Health-related quality of life in primary immune deficient patients. ⁶¹	Mozaffari H...Entezari N	17242500	2006

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Genes for Immunodeficiency 54

Genes related to Immunodeficiency 54 (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MCM4	Minichromosome Maintenance Complex Component 4	Protein Coding	1382.4	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders (show sections)	22354167 16532402 22354170 (more) 22499342 22405088
2	KLRC2	Killer Cell Lectin Like Receptor C2	Protein Coding	4.76	DISEASES inferred ¹⁵
3	KLRD1	Killer Cell Lectin Like Receptor D1	Protein Coding	4.26	DISEASES inferred ¹⁵
4	CHL1	Cell Adhesion Molecule L1 Like	Protein Coding	4.19	DISEASES inferred ¹⁵
5	NCR1	Natural Cytotoxicity Triggering Receptor 1	Protein Coding	4.17	DISEASES inferred ¹⁵
6	B3GAT1	Beta-1,3-Glucuronyltransferase 1	Protein Coding	4.06	DISEASES inferred ¹⁵
7	IRF1	Interferon Regulatory Factor 1	Protein Coding	3.95	DISEASES inferred ¹⁵
8	EGFR	Epidermal Growth Factor Receptor	Protein Coding	3.81	DISEASES inferred ¹⁵
9	KLRK1	Killer Cell Lectin Like Receptor K1	Protein Coding	3.77	DISEASES inferred ¹⁵
10	PRF1	Perforin 1	Protein Coding	3.5	DISEASES inferred ¹⁵
11	IL15	Interleukin 15	Protein Coding	3.43	DISEASES inferred ¹⁵
12	NCAM1	Neural Cell Adhesion Molecule 1	Protein Coding	3.22	DISEASES inferred ¹⁵

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Variations for Immunodeficiency 54

ClinVar genetic disease variations for Immunodeficiency 54:

⁶ (show top 50) (show all 127)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MCM4	NM_182746.3(MCM4):c.71-2A>G	SNV	Pathogenic	37234	rs1563829725	GRCh37: 8:48874074-48874074 GRCh38: 8:47961514-47961514
2	MCM4	NM_182746.3(MCM4):c.832+2T>C	SNV	Pathogenic	505469	rs1408879284	GRCh37: 8:48877274-48877274 GRCh38: 8:47964714-47964714
3	MCM4	NM_182746.3(MCM4):c.1054-1G>A	SNV	Pathogenic	1033041		GRCh37: 8:48879924-48879924 GRCh38: 8:47967364-47967364
4	MCM4	NM_182746.3(MCM4):c.220C>T (p.Gln74Ter)	SNV	Likely pathogenic	930225		GRCh37: 8:48874225-48874225 GRCh38: 8:47961665-47961665
5	MCM4	NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr)	SNV	Conflicting interpretations of pathogenicity	718626	rs117063344	GRCh37: 8:48882589-48882589 GRCh38: 8:47970029-47970029
6	MCM4	NM_182746.3(MCM4):c.311G>A (p.Arg104Lys)	SNV	Uncertain significance	1028961		GRCh37: 8:48874688-48874688 GRCh38: 8:47962128-47962128
7	MCM4	NM_182746.3(MCM4):c.2020G>A (p.Glu674Lys)	SNV	Uncertain significance	992551		GRCh37: 8:48885508-48885508 GRCh38: 8:47972948-47972948
8	MCM4	NM_182746.3(MCM4):c.2102G>A (p.Arg701Gln)	SNV	Uncertain significance	910776		GRCh37: 8:48885590-48885590 GRCh38: 8:47973030-47973030
9	MCM4	NM_182746.3(MCM4):c.2257G>C (p.Val753Leu)	SNV	Uncertain significance	911991		GRCh37: 8:48887414-48887414 GRCh38: 8:47974854-47974854
10	MCM4	NM_182746.3(MCM4):c.487A>G (p.Lys163Glu)	SNV	Uncertain significance	363218	rs34206069	GRCh37: 8:48874952-48874952 GRCh38: 8:47962392-47962392
11	MCM4	NM_182746.3(MCM4):c.1661G>A (p.Arg554Lys)	SNV	Uncertain significance	1033042		GRCh37: 8:48883297-48883297 GRCh38: 8:47970737-47970737
12	MCM4	NM_182746.3(MCM4):c.2101C>T (p.Arg701Trp)	SNV	Uncertain significance	1033043		GRCh37: 8:48885589-48885589 GRCh38: 8:47973029-47973029
13	MCM4	NM_182746.3(MCM4):c.31C>G (p.Arg11Gly)	SNV	Uncertain significance	626134	rs369039102	GRCh37: 8:48873735-48873735 GRCh38: 8:47961175-47961175
14	MCM4	NM_182746.3(MCM4):c.1175-7C>T	SNV	Uncertain significance	363229	rs372261482	GRCh37: 8:48882351-48882351 GRCh38: 8:47969791-47969791
15	MCM4	NM_182746.3(MCM4):c.1578C>T (p.Leu526=)	SNV	Uncertain significance	773909	rs34157149	GRCh37: 8:48883214-48883214 GRCh38: 8:47970654-47970654
16	MCM4 , LOC106903146	NM_005914.4(MCM4):c.-701C>A	SNV	Uncertain significance	363193	rs886062968	GRCh37: 8:48873004-48873004 GRCh38: 8:47960444-47960444
17	MCM4 , LOC106903146	NM_005914.4(MCM4):c.-479A>G	SNV	Uncertain significance	363196	rs571102789	GRCh37: 8:48873226-48873226 GRCh38: 8:47960666-47960666
18	MCM4	NM_005914.4(MCM4):c.-347C>A	SNV	Uncertain significance	363202	rs886062970	GRCh37: 8:48873358-48873358 GRCh38: 8:47960798-47960798
19	MCM4	NM_005914.4(MCM4):c.-205C>T	SNV	Uncertain significance	363205	rs17287526	GRCh37: 8:48873500-48873500 GRCh38: 8:47960940-47960940
20	MCM4 , LOC106903146	NM_005914.3(MCM4):c.-646delG	Deletion	Uncertain significance	363194	rs376290735	GRCh37: 8:48873054-48873054 GRCh38: 8:47960494-47960494
21	MCM4 , LOC106903146	NM_005914.3(MCM4):c.-745_-744delAA	Deletion	Uncertain significance	363191	rs530578769	GRCh37: 8:48872960-48872961 GRCh38: 8:47960400-47960401
22	MCM4	NM_182746.3(MCM4):c.*842G>A	SNV	Uncertain significance	910828		GRCh37: 8:48890180-48890180 GRCh38: 8:47977620-47977620
23	MCM4	NM_182746.3(MCM4):c.*850T>A	SNV	Uncertain significance	910829		GRCh37: 8:48890188-48890188 GRCh38: 8:47977628-47977628
24	MCM4	NM_182746.3(MCM4):c.-77G>A	SNV	Uncertain significance	911893		GRCh37: 8:48873512-48873512 GRCh38: 8:47960952-47960952
25	MCM4	NM_182746.3(MCM4):c.-33A>G	SNV	Uncertain significance	911894		GRCh37: 8:48873556-48873556 GRCh38: 8:47960996-47960996
26	MCM4	NM_182746.3(MCM4):c.-15+55C>T	SNV	Uncertain significance	911895		GRCh37: 8:48873629-48873629 GRCh38: 8:47961069-47961069
27	MCM4	NM_182746.3(MCM4):c.899A>G (p.Gln300Arg)	SNV	Uncertain significance	911936		GRCh37: 8:48878813-48878813 GRCh38: 8:47966253-47966253
28	MCM4	NM_182746.3(MCM4):c.2296C>T (p.Arg766Trp)	SNV	Uncertain significance	911992		GRCh37: 8:48887453-48887453 GRCh38: 8:47974893-47974893
29	MCM4	NM_182746.3(MCM4):c.2341G>A (p.Val781Met)	SNV	Uncertain significance	911993		GRCh37: 8:48887498-48887498 GRCh38: 8:47974938-47974938
30	MCM4	NM_182746.3(MCM4):c.2531T>C (p.Leu844Pro)	SNV	Uncertain significance	911994		GRCh37: 8:48889277-48889277 GRCh38: 8:47976717-47976717
31	MCM4	NM_182746.3(MCM4):c.*37C>T	SNV	Uncertain significance	911995		GRCh37: 8:48889375-48889375 GRCh38: 8:47976815-47976815
32	MCM4	NM_182746.3(MCM4):c.*1140G>A	SNV	Uncertain significance	912048		GRCh37: 8:48890478-48890478 GRCh38: 8:47977918-47977918
33	MCM4	NM_182746.3(MCM4):c.*1234T>C	SNV	Uncertain significance	912049		GRCh37: 8:48890572-48890572 GRCh38: 8:47978012-47978012
34	MCM4	NM_182746.3(MCM4):c.*1266G>A	SNV	Uncertain significance	912050		GRCh37: 8:48890604-48890604 GRCh38: 8:47978044-47978044
35	MCM4	NM_182746.3(MCM4):c.686dup (p.Tyr229Ter)	Duplication	Uncertain significance	632521	rs1563831163	GRCh37: 8:48875592-48875593 GRCh38: 8:47963032-47963033
36	MCM4 , LOC106903146	NM_005914.4(MCM4):c.-407G>A	SNV	Uncertain significance	363200	rs546045069	GRCh37: 8:48873298-48873298 GRCh38: 8:47960738-47960738
37	MCM4	NM_005914.4(MCM4):c.-320dup	Duplication	Uncertain significance	363203	rs532945813	GRCh37: 8:48873378-48873379 GRCh38: 8:47960818-47960819
38	MCM4 , LOC106903146	NM_005914.4(MCM4):c.-473G>A	SNV	Uncertain significance	363197	rs537563295	GRCh37: 8:48873232-48873232 GRCh38: 8:47960672-47960672
39	MCM4 , LOC106903146	NM_005914.4(MCM4):c.-453T>C	SNV	Uncertain significance	363198	rs539732672	GRCh37: 8:48873252-48873252 GRCh38: 8:47960692-47960692
40	MCM4 , LOC106903146	NM_005914.4(MCM4):c.-721dup	Duplication	Uncertain significance	363192	rs886062967	GRCh37: 8:48872983-48872984 GRCh38: 8:47960423-47960424
41	MCM4 , LOC106903146	NM_005914.4(MCM4):c.-501A>G	SNV	Uncertain significance	363195	rs570195176	GRCh37: 8:48873204-48873204 GRCh38: 8:47960644-47960644
42	MCM4 , LOC106903146	NM_005914.4(MCM4):c.-372G>A	SNV	Uncertain significance	363201	rs17334298	GRCh37: 8:48873333-48873333 GRCh38: 8:47960773-47960773
43	MCM4	NM_005914.4(MCM4):c.-253C>T	SNV	Uncertain significance	363204	rs17334305	GRCh37: 8:48873452-48873452 GRCh38: 8:47960892-47960892
44	MCM4 , LOC106903146	NM_005914.4(MCM4):c.-754G>A	SNV	Uncertain significance	363190	rs180692385	GRCh37: 8:48872951-48872951 GRCh38: 8:47960391-47960391
45	MCM4	NM_182746.3(MCM4):c.*484del	Deletion	Uncertain significance	363247	rs886062982	GRCh37: 8:48889822-48889822 GRCh38: 8:47977262-47977262
46	MCM4	NM_182746.3(MCM4):c.604G>A (p.Val202Ile)	SNV	Uncertain significance	626138	rs748499898	GRCh37: 8:48875511-48875511 GRCh38: 8:47962951-47962951
47	MCM4	NM_182746.3(MCM4):c.440G>A (p.Gly147Asp)	SNV	Uncertain significance	363217	rs886062976	GRCh37: 8:48874905-48874905 GRCh38: 8:47962345-47962345
48	MCM4	NM_182746.3(MCM4):c.*125A>G	SNV	Uncertain significance	363240	rs886062979	GRCh37: 8:48889463-48889463 GRCh38: 8:47976903-47976903
49	MCM4	NM_182746.3(MCM4):c.*255A>G	SNV	Uncertain significance	363243	rs544019622	GRCh37: 8:48889593-48889593 GRCh38: 8:47977033-47977033
50	MCM4	NM_182746.3(MCM4):c.*438A>G	SNV	Uncertain significance	363246	rs886062981	GRCh37: 8:48889776-48889776 GRCh38: 8:47977216-47977216

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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

Pathways related to Immunodeficiency 54 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁵ Show member pathways Immune System ⁶⁵ Neutrophil degranulation ⁶⁵	13.63	NCR1 NCAM1 KLRK1 KLRD1 KLRC2 IRF1
2	Allograft rejection ¹ ³⁶ Show member pathways Antigen processing and presentation ³⁶ Asthma ³⁶ Autoimmune thyroid disease ³⁶ CTL Mediated Apoptosis ⁶³ Graft-versus-host disease ³⁶ Intestinal immune network for IgA production ³⁶ THC Differentiation Pathway ⁶³ Type I diabetes mellitus ³⁶ Viral myocarditis ³⁶	12.45	PRF1 KLRD1 KLRC2 IL15
3	Immune response Role of DAP12 receptors in NK cells ²³ Show member pathways Immune response CD16 signaling in NK cells ²³ Natural killer cell mediated cytotoxicity ³⁶	12.03	PRF1 NCR1 KLRK1 KLRD1 KLRC2
4	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁵	11.63	NCR1 KLRK1 KLRD1
5	L1CAM interactions ⁶⁵ Show member pathways CHL1 interactions ⁶⁵ Neurofascin interactions ⁶⁵ NrCAM interactions ⁶⁵	11.53	NCAM1 EGFR CHL1
6	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	11.42	NCR1 NCAM1 KLRK1 KLRC2 IL15
7	Immune response_IL-12 signaling pathway ²³ Show member pathways Interleukin-12 signaling ⁶⁵	10.94	PRF1 IRF1
8	Innate Lymphoid Cell Differentiation Pathways ⁶⁴	10.92	NCR1 NCAM1 KLRK1 KLRD1 IL15
9	IL12 signaling mediated by STAT4 ¹	10.9	PRF1 IRF1
10	Signal transduction by L1 ⁶⁵	10.69	NCAM1 EGFR

Sources

GO Terms for Immunodeficiency 54

Cellular components related to Immunodeficiency 54 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	9.61	PRF1 NCR1 NCAM1 KLRK1 KLRD1 KLRC2
2	cell surface	GO:0009986	9.46	NCAM1 KLRK1 IL15 EGFR
3	receptor complex	GO:0043235	8.8	KLRD1 KLRC2 EGFR

Biological processes related to Immunodeficiency 54 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	9.88	NCR1 KLRK1 KLRC2 IL15 EGFR CHL1
2	innate immune response	GO:0045087	9.67	KLRK1 KLRD1 KLRC2 IRF1
3	regulation of immune response	GO:0050776	9.56	NCR1 KLRK1 KLRD1 IRF1
4	cellular defense response	GO:0006968	9.33	PRF1 NCR1 KLRC2
5	natural killer cell activation	GO:0030101	9.32	NCR1 KLRK1
6	natural killer cell mediated immunity	GO:0002228	8.96	KLRD1 KLRC2
7	positive regulation of natural killer cell mediated cytotoxicity	GO:0045954	8.8	KLRK1 KLRD1 KLRC2

Molecular functions related to Immunodeficiency 54 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane signaling receptor activity	GO:0004888	9.43	KLRD1 KLRC2 EGFR
2	carbohydrate binding	GO:0030246	9.33	KLRK1 KLRD1 KLRC2
3	protein antigen binding	GO:1990405	8.96	KLRD1 KLRC2
4	MHC class I protein complex binding	GO:0023024	8.62	KLRD1 KLRC2

Sources

Sources for Immunodeficiency 54

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Immunodeficiency 54 (IMD54)

Aliases & Classifications for Immunodeficiency 54

MalaCards integrated aliases for Immunodeficiency 54:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency 54

Related Diseases for Immunodeficiency 54

Diseases related to Immunodeficiency 54 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Immunodeficiency 54:

Symptoms & Phenotypes for Immunodeficiency 54

Human phenotypes related to Immunodeficiency 54:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Immunodeficiency 54 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Immunodeficiency 54

Interventional clinical trials:

Cochrane evidence based reviews: natural killer cell deficiency, familial isolated

Genetic Tests for Immunodeficiency 54

Genetic tests related to Immunodeficiency 54:

Anatomical Context for Immunodeficiency 54

MalaCards organs/tissues related to Immunodeficiency 54:

Publications for Immunodeficiency 54

Articles related to Immunodeficiency 54:

Genes for Immunodeficiency 54

Genes related to Immunodeficiency 54 (1 elite genes):

Variations for Immunodeficiency 54

ClinVar genetic disease variations for Immunodeficiency 54:

Expression for Immunodeficiency 54

Pathways for Immunodeficiency 54

Pathways related to Immunodeficiency 54 according to GeneCards Suite gene sharing:

GO Terms for Immunodeficiency 54

Cellular components related to Immunodeficiency 54 according to GeneCards Suite gene sharing:

Biological processes related to Immunodeficiency 54 according to GeneCards Suite gene sharing:

Molecular functions related to Immunodeficiency 54 according to GeneCards Suite gene sharing:

Sources for Immunodeficiency 54