IMD21
MCID: IMM078
MIFTS: 57

Immunodeficiency 21 (IMD21)

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

Aliases & Classifications for Immunodeficiency 21

MalaCards integrated aliases for Immunodeficiency 21:

Name: Immunodeficiency 21 57 12 72 15 70
Dendritic Cell, Monocyte, B Lymphocyte, and Natural Killer Lymphocyte Deficiency 57 20 29 13 6 39
Monocytopenia and Mycobacterial Infection Syndrome 57 12 20 58 72
Monomac 57 12 20 58 72
Gata2 Deficiency 57 12 20 44
Dcml 57 12 20 72
Monocytopenia with Susceptibility to Infections 12 20 58
Imd21 57 12 72
Monocytopenia with Susceptibility to Mycobacterial, Fungal, and Papillomavirus Infections and Myelodysplasia 57 20
Combined Immunodeficiency with Susceptibility to Mycobacterial, Viral, and Fungal Infections 57 20
Combined Immunodeficiency with Susceptibility to Mycobacterial, Viral and Fungal Infections 12 58
Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome 12 58
Dendritic Cell, Monocyte, B and Nk Lymphoid Deficiency 12 58
Monocytopenia with Susceptibility to Mycobacterial Fungal and Papillomavirus Infections and Myelodysplasia 72
Monocytopenia with Mycobacterial, Fungal, and Papillomavirus Infections and Myelodysplasia 57
Combined Immunodeficiency with Susceptibility to Mycobacterial Viral and Fungal Infections 72
Dendritic Cell, Monocyte, B Lymphocyte, and Natural Killer Lymphocyte Deficiency; Dcml 57
Dendritic Cell Monocyte Lymphocyte B and Natural Killer Lymphocyte Deficiency 72
Combined Immunodeficiency with Mycobacterial, Viral, and Fungal Infections 57
Monocytopenia and Mycobacterial Infection Syndrome; Monomac 57
Monocyte - B - Natural Killer - Dendritic Cell Deficiency 20

Characteristics:

Orphanet epidemiological data:

58
monocytopenia with susceptibility to infections
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

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

Miscellaneous:
variable phenotype
variable age at onset
increased risk of miscarriage


HPO:

31
immunodeficiency 21:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111947
OMIM® 57 614172
OMIM Phenotypic Series 57 PS300755
NCIt 50 C126349
SNOMED-CT 67 778024005
ICD10 via Orphanet 33 D72.8
Orphanet 58 ORPHA228423
MedGen 41 C3280030
UMLS 70 C3280030

Summaries for Immunodeficiency 21

OMIM® : 57 This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anemia. Bone marrow transplantation is the only cure. Some patients may have an increased risk of miscarriage. Both autosomal dominant transmission and sporadic cases occur. Less common manifestations of GATA2 deficiency include lymphedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome' (614038) (summary by Bigley et al. (2011), Hsu et al. (2011), and Spinner et al. (2014)). (614172) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 21, also known as dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency, is related to refractory cytopenia with multilineage dysplasia and chronic myelomonocytic leukemia. An important gene associated with Immunodeficiency 21 is GATA2 (GATA Binding Protein 2), and among its related pathways/superpathways are Pathways in cancer and Interferon gamma signaling. The drugs Cyclophosphamide and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and bone, and related phenotypes are aplastic anemia and immunodeficiency

Disease Ontology : 12 A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has material basis in heterozygous mutation in GATA2 on chromosome 3q21.3.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 228423 Definition Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK- cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

UniProtKB/Swiss-Prot : 72 Immunodeficiency 21: An immunodeficiency disease characterized by profoundly decreased or absent monocytes, B-lymphocytes, natural killer lymphocytes, and circulating and tissue dendritic cells, with little or no effect on T- cell numbers. Clinical features of DCML include susceptibility to disseminated non-tuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. This syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern.

Related Diseases for Immunodeficiency 21

Diseases related to Immunodeficiency 21 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 refractory cytopenia with multilineage dysplasia 30.3 GATA2 ASXL1
2 chronic myelomonocytic leukemia 30.3 LUC7L2 GATA2 FLT3 ASXL1
3 epidermodysplasia verruciformis 1 30.1 GATA2 DOCK8 ANKRD26
4 juvenile myelomonocytic leukemia 29.8 SAMD9L LUC7L2 FLT3 ASXL1
5 aplastic anemia 29.7 LUC7L2 GATA2 GATA1 FLT3 DDX41 ASXL1
6 pancytopenia 29.7 SAMD9L SAMD9 NCAM1 LUC7L2
7 nk cell deficiency 29.4 NCAM1 MCM4 GINS1 GATA2
8 sarcoidosis 1 29.4 STAT1 IL12RB1 IFNGR2
9 myelodysplastic syndrome 28.6 STAT1 SAMD9L SAMD9 LUC7L2 GATA2 GATA1
10 leukemia, acute myeloid 28.2 STAT1 SPI1 SAMD9L NCAM1 LUC7L2 IRF8
11 monocyte, dendritic cell, and nk cell deficiency 10.3 SPI1 IRF8
12 dendritic cell deficiency 10.3 IRF8 GATA2 ASXL1
13 inflammatory bowel disease 27 10.3 GATA2 GATA1
14 immunodeficiency 32b 10.3 SPI1 IRF8
15 neutrophil-specific granule deficiency 10.2 SPI1 GATA1
16 acute erythroid leukemia 10.2 SPI1 GATA1
17 myelodysplastic/myeloproliferative neoplasm 10.2 LUC7L2 FLT3 ASXL1
18 tumoral calcinosis, normophosphatemic, familial 10.2 SAMD9L SAMD9
19 atypical chronic myeloid leukemia 10.2 LUC7L2 FLT3 ASXL1
20 amegakaryocytic thrombocytopenia, congenital 10.2 LUC7L2 GATA1 ANKRD26
21 nocardiosis 10.2 IL12RB1 IFNGR2
22 chronic leukemia 10.2 LUC7L2 FLT3 ASXL1
23 hyper ige recurrent infection syndrome 1 10.1 STAT1 IL12RB1 DOCK8
24 immunodeficiency 35 10.1 STAT1 IL12RB1 DOCK8
25 immunodeficiency 30 10.1 IL12RB1 IFNGR2
26 immunodeficiency 28 10.1 IL12RB1 IFNGR2
27 axillary adenitis 10.1 IRF8 IL12RB1 IFNGR2
28 tuberculous salpingitis 10.1 IRF8 IL12RB1 IFNGR2
29 nail disease 10.1 STAT1 IL12RB1 DOCK8
30 opportunistic bacterial infectious disease 10.1 IRF8 IL12RB1 IFNGR2
31 opportunistic mycosis 10.1 STAT1 IL12RB1 DOCK8
32 immunodeficiency 31b 10.1 STAT1 IL12RB1
33 fungal infectious disease 10.1 STAT1 IL12RB1 DOCK8
34 fibrosis of extraocular muscles, congenital, 1 10.1
35 branchiootic syndrome 1 10.1
36 familial tumoral calcinosis 10.1 SAMD9L SAMD9
37 salmonellosis 10.1 STAT1 SPI1 IL12RB1
38 immunodeficiency 27a 10.1 STAT1 IFNGR2
39 shwachman-diamond syndrome 1 10.1 LUC7L2 GATA2 DDX41 ANKRD26
40 acute myeloid leukemia with t(8;21)(q22;q22) translocation 10.0 FLT3 CEBPA
41 cytogenetically normal acute myeloid leukemia 10.0 FLT3 CEBPA
42 immune deficiency disease 10.0
43 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
45 pulmonary hypertension 10.0
46 influenza 10.0
47 herpes simplex 10.0
48 chromosomal triplication 10.0
49 hydroa vacciniforme 10.0
50 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome 10.0

Graphical network of the top 20 diseases related to Immunodeficiency 21:



Diseases related to Immunodeficiency 21

Symptoms & Phenotypes for Immunodeficiency 21

Human phenotypes related to Immunodeficiency 21:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 aplastic anemia 31 occasional (7.5%) HP:0001915
2 immunodeficiency 31 HP:0002721
3 myelodysplasia 31 HP:0002863
4 lymphopenia 31 HP:0001888
5 neutropenia 31 HP:0001875
6 myeloid leukemia 31 HP:0012324
7 recurrent fungal infections 31 HP:0002841
8 recurrent viral infections 31 HP:0004429
9 monocytopenia 31 HP:0012312
10 abnormal natural killer cell morphology 31 HP:0012176
11 recurrent mycobacterium avium complex infections 31 HP:0011275

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Immunology:
neutropenia
monocytopenia
primary immunodeficiency
recurrent infections, particularly to viruses and fungi
mycobacterial infections
more
Hematology:
aplastic anemia (in some patients)

Respiratory Lung:
pulmonary alveolar proteinosis (in some patients)

Neoplasia:
susceptibility to myelodysplasia
susceptibility to myeloid leukemia

Clinical features from OMIM®:

614172 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Immunodeficiency 21:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.24 ASXL1 CEBPA DDX41 DOCK8 FLT3 GATA1
2 cellular MP:0005384 10.18 ASXL1 CEBPA DOCK8 FLT3 GATA1 GATA2
3 homeostasis/metabolism MP:0005376 10.13 ANKRD26 ASXL1 CEBPA DDX41 FLT3 GATA1
4 immune system MP:0005387 10.1 ASXL1 CEBPA DDX41 DOCK8 FLT3 GATA1
5 mortality/aging MP:0010768 9.97 ASXL1 CEBPA DDX41 FLT3 GATA1 GATA2
6 neoplasm MP:0002006 9.56 ASXL1 CEBPA FLT3 IRF8 MCM4 SAMD9L
7 normal MP:0002873 9.23 CEBPA GATA1 GATA2 IRF8 MAGT1 MCM4

Drugs & Therapeutics for Immunodeficiency 21

Drugs for Immunodeficiency 21 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
2
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
3
Mycophenolic acid Approved Phase 2 24280-93-1 446541
4
Busulfan Approved, Investigational Phase 2 55-98-1 2478
5
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643 439492
6 Antibiotics, Antitubercular Phase 2
7 Immunologic Factors Phase 2
8 Immunosuppressive Agents Phase 2
9 Antirheumatic Agents Phase 2
10 Alkylating Agents Phase 2
11 Anti-Bacterial Agents Phase 2
12 Antitubercular Agents Phase 2
13 Antilymphocyte Serum Phase 2
14 Antimetabolites Phase 2
15 Calcineurin Inhibitors Phase 2
16 Anti-Infective Agents Phase 2
17
nivolumab Approved Phase 1 946414-94-4
18 Antineoplastic Agents, Immunological Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Mutations in GATA2 or the MonoMAC Syndrome Recruiting NCT01861106 Phase 2 Busulfan Test dose;Fludarabine (Fludara, Berlex Laboratories);Busulfan (Busulfex);Cyclophosphamide (CTX, Cytoxan);Mycophenolate mofetil (MMF);Tacrolimus
2 Graft-Versus-Tumor Augmentation With Nivolumab for High-Risk Patients With MDS and AML After Allogeneic Stem Cell Transplantation Using Post-Transplantation Cyclophosphamide Recruiting NCT04361058 Phase 1 Nivolumab
3 The Natural Killer Cells Regulatory Role Against Hepatic Fibrosis Following Bariatric Surgery Unknown status NCT02732535
4 Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells From Patients With DOCK8 Deficiency, LAD-1, and GATA2 Deficiency Recruiting NCT01212055
5 The Natural History of GATA2 Deficiency and Related Disorders Recruiting NCT01905826
6 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Immunodeficiency 21

Cochrane evidence based reviews: gata2 deficiency

Genetic Tests for Immunodeficiency 21

Genetic tests related to Immunodeficiency 21:

# Genetic test Affiliating Genes
1 Dendritic Cell, Monocyte, B Lymphocyte, and Natural Killer Lymphocyte Deficiency 29 GATA2

Anatomical Context for Immunodeficiency 21

MalaCards organs/tissues related to Immunodeficiency 21:

40
Bone Marrow, Myeloid, Bone, Monocytes, Nk Cells, Skin, B Cells

Publications for Immunodeficiency 21

Articles related to Immunodeficiency 21:

(show all 37)
# Title Authors PMID Year
1
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. 6 57
23365458 2013
2
Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity. 6 57
22996659 2012
3
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. 57 6
21765025 2011
4
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. 6 57
21670465 2011
5
The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. 6 57
21242295 2011
6
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. 6 57
20040766 2010
7
Severe herpesvirus infections in an adolescent without natural killer cells. 57 6
2543925 1989
8
Single-nucleotide human disease mutation inactivates a blood-regenerative GATA2 enhancer. 6
30620726 2019
9
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients. 6
29724903 2018
10
Melanoma in patients with GATA2 deficiency. 6
29156497 2018
11
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 6
29077208 2018
12
Multiple Opportunistic Infections in a Woman with GATA2 Mutation. 6
27894982 2017
13
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 6
27418648 2016
14
Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome. 6
27013649 2016
15
Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease. 6
26812071 2016
16
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. 6
26702063 2016
17
Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. 6
26492932 2015
18
Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia. 6
25676417 2015
19
GATA2 germline mutations impair GATA2 transcription, causing haploinsufficiency: functional analysis of the p.Arg396Gln mutation. 6
25624456 2015
20
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood. 6
25879889 2015
21
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. 6
25239263 2015
22
Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia. 6
24782121 2014
23
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. 6
24077845 2014
24
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. 57
24227816 2014
25
Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom. 6
24266605 2013
26
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 6
23502222 2013
27
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. 6
23223431 2013
28
GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia. 6
22430350 2012
29
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. 6
22533337 2012
30
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. 6
22147895 2012
31
Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. 57
21816832 2011
32
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 6
21892162 2011
33
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 6
21892158 2011
34
[Clinical characteristics of primary immunodeficiencies in children from a tertiary hospital]. 61
33636063 2020
35
Use of Galactomannan Antigen and Aspergillus DNA Real-time Polymerase Chain Reaction as Routine Methods for Invasive Aspergillosis in Immunosuppressed Children in Greece. 61
29807668 2018
36
[Reduced-intensity conditioning haematopoietic stem cell transplantation in genetic diseases: Experience of the Spanish Working Group for Bone Marrow Transplantation in Children]. 61
28694008 2018
37
Frequency of mucosal HPV DNA detection (types 6/11, 16/18, 31/35/51) in skin lesions of renal transplant patients. 61
9090000 1997

Variations for Immunodeficiency 21

ClinVar genetic disease variations for Immunodeficiency 21:

6 (show top 50) (show all 436)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA2 NM_032638.5(GATA2):c.839del (p.Pro280fs) Deletion Pathogenic 636246 rs1576748366 GRCh37: 3:128204602-128204602
GRCh38: 3:128485759-128485759
2 GATA2 NM_001145661.1(GATA2):c.-200_871+527del2032 Deletion Pathogenic 29712 GRCh37: 3:128204043-128206074
GRCh38: 3:128485200-128487231
3 GATA2 NM_001145661.2(GATA2):c.1018-1G>T SNV Pathogenic 29716 rs869320668 GRCh37: 3:128200788-128200788
GRCh38: 3:128481945-128481945
4 GATA2 NM_001145661.2(GATA2):c.1017+513_1017+540del Deletion Pathogenic 39587 rs1553770655 GRCh37: 3:128202163-128202190
GRCh38: 3:128483320-128483347
5 GATA2 NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter) SNV Pathogenic 854097 GRCh37: 3:128205659-128205659
GRCh38: 3:128486816-128486816
6 overlap with 5 genes NC_000003.12:g.(?_128480999)_(128912627_?)del Deletion Pathogenic 831903 GRCh37: 3:128199842-128631470
GRCh38:
7 GATA2 NM_001145661.2(GATA2):c.1017+572C>T SNV Pathogenic 566562 rs1559985787 GRCh37: 3:128202131-128202131
GRCh38: 3:128483288-128483288
8 GATA2 NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) SNV Pathogenic 800674 rs1313081073 GRCh37: 3:128200778-128200778
GRCh38: 3:128481935-128481935
9 GATA2 NM_001145661.2(GATA2):c.761C>T (p.Pro254Leu) SNV Pathogenic 29710 rs387906630 GRCh37: 3:128204680-128204680
GRCh38: 3:128485837-128485837
10 GATA2 NM_001145661.2(GATA2):c.1084_1095del (p.Arg362_Asn365del) Deletion Pathogenic 29713 rs869320734 GRCh37: 3:128200710-128200721
GRCh38: 3:128481867-128481878
11 GATA2 NM_001145661.2(GATA2):c.243delinsGC (p.Gly82fs) Indel Pathogenic 29714 rs869320735 GRCh37: 3:128205198-128205198
GRCh38: 3:128486355-128486355
12 GATA2 NM_001145661.2(GATA2):c.599dup (p.Gly200_Ser201insTer) Duplication Pathogenic 29715 rs768767517 GRCh37: 3:128204841-128204842
GRCh38: 3:128485998-128485999
13 GATA2 NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs) Duplication Pathogenic 225277 rs869320770 GRCh37: 3:128200780-128200781
GRCh38: 3:128481937-128481938
14 GATA2 NM_001145661.2(GATA2):c.1187G>A (p.Arg396Gln) SNV Pathogenic 472437 rs1553770434 GRCh37: 3:128200118-128200118
GRCh38: 3:128481275-128481275
15 GATA2 NM_001145661.2(GATA2):c.890_903dup (p.Ala302fs) Duplication Pathogenic 566999 rs1559986109 GRCh37: 3:128202816-128202817
GRCh38: 3:128483973-128483974
16 GATA2 NM_001145661.2(GATA2):c.818dup (p.Pro274fs) Duplication Pathogenic 574716 rs1559986946 GRCh37: 3:128204622-128204623
GRCh38: 3:128485779-128485780
17 GATA2 NM_001145661.2(GATA2):c.988C>T (p.Arg330Ter) SNV Pathogenic 640197 rs1576746847 GRCh37: 3:128202732-128202732
GRCh38: 3:128483889-128483889
18 GATA2 NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) SNV Pathogenic 29719 rs387906632 GRCh37: 3:128202711-128202711
GRCh38: 3:128483868-128483868
19 GATA2 NM_001145661.2(GATA2):c.649_653dup (p.Glu219_Ser220insTer) Duplication Pathogenic 539711 rs1553770949 GRCh37: 3:128204787-128204788
GRCh38: 3:128485944-128485945
20 GATA2 NC_000003.12:g.(?_128486793)_(128487041_?)del Deletion Pathogenic 657370 GRCh37: 3:128205636-128205884
GRCh38: 3:128486793-128487041
21 GATA2 NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) SNV Pathogenic 29709 rs387906629 GRCh37: 3:128200113-128200113
GRCh38: 3:128481270-128481270
22 GATA2 NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) SNV Pathogenic 29711 rs387906631 GRCh37: 3:128200744-128200744
GRCh38: 3:128481901-128481901
23 GATA2 NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) SNV Pathogenic 29711 rs387906631 GRCh37: 3:128200744-128200744
GRCh38: 3:128481901-128481901
24 GATA2 NM_032638.5(GATA2):c.971del (p.Lys324fs) Deletion Pathogenic 646586 rs1576746862 GRCh37: 3:128202749-128202749
GRCh38: 3:128483906-128483906
25 GATA2 NM_032638.5(GATA2):c.971del (p.Lys324fs) Deletion Pathogenic 646586 rs1576746862 GRCh37: 3:128202749-128202749
GRCh38: 3:128483906-128483906
26 GATA2 NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs) Duplication Likely pathogenic 225277 rs869320770 GRCh37: 3:128200780-128200781
GRCh38: 3:128481937-128481938
27 GATA2 NM_001145661.2(GATA2):c.526A>C (p.Thr176Pro) SNV Likely pathogenic 430908 rs1553770978 GRCh37: 3:128204915-128204915
GRCh38: 3:128486072-128486072
28 GATA2 NM_001145661.2(GATA2):c.1081C>T (p.Arg361Cys) SNV Likely pathogenic 472431 rs1426175410 GRCh37: 3:128200724-128200724
GRCh38: 3:128481881-128481881
29 GATA2 NM_032638.5(GATA2):c.1024dup (p.Ala342fs) Duplication Likely pathogenic 944022 GRCh37: 3:128200780-128200781
GRCh38: 3:128481937-128481938
30 GATA2 NM_001145661.2(GATA2):c.1113C>A (p.Asn371Lys) SNV Likely pathogenic 216931 rs376003468 GRCh37: 3:128200692-128200692
GRCh38: 3:128481849-128481849
31 GATA2 NM_032638.5(GATA2):c.872-1G>C SNV Likely pathogenic 835953 GRCh37: 3:128202849-128202849
GRCh38: 3:128484006-128484006
32 GATA2 NM_032638.5(GATA2):c.762G>A (p.Pro254=) SNV Uncertain significance 843301 GRCh37: 3:128204679-128204679
GRCh38: 3:128485836-128485836
33 GATA2 NM_032638.5(GATA2):c.39C>A (p.His13Gln) SNV Uncertain significance 845878 GRCh37: 3:128205836-128205836
GRCh38: 3:128486993-128486993
34 GATA2 NM_032638.5(GATA2):c.776A>G (p.Asp259Gly) SNV Uncertain significance 848228 GRCh37: 3:128204665-128204665
GRCh38: 3:128485822-128485822
35 GATA2 NM_032638.5(GATA2):c.1280C>G (p.Pro427Arg) SNV Uncertain significance 848285 GRCh37: 3:128200025-128200025
GRCh38: 3:128481182-128481182
36 GATA2 NM_001145661.2(GATA2):c.1019_1023delinsGCCTT (p.Ser340_Ala341delinsCysLeu) Indel Uncertain significance 472428 rs1553770524 GRCh37: 3:128200782-128200786
GRCh38: 3:128481939-128481943
37 GATA2 NM_001145661.2(GATA2):c.872-5T>G SNV Uncertain significance 472467 rs886038417 GRCh37: 3:128202853-128202853
GRCh38: 3:128484010-128484010
38 GATA2 NC_000003.12:g.(?_128481009)_(128487041_?)dup Duplication Uncertain significance 831902 GRCh37: 3:128199852-128205884
GRCh38:
39 GATA2 NM_032638.5(GATA2):c.8T>C (p.Val3Ala) SNV Uncertain significance 835495 GRCh37: 3:128205867-128205867
GRCh38: 3:128487024-128487024
40 GATA2 NM_032638.5(GATA2):c.23C>T (p.Pro8Leu) SNV Uncertain significance 855197 GRCh37: 3:128205852-128205852
GRCh38: 3:128487009-128487009
41 GATA2 NM_032638.5(GATA2):c.843G>T (p.Lys281Asn) SNV Uncertain significance 934394 GRCh37: 3:128204598-128204598
GRCh38: 3:128485755-128485755
42 GATA2 NM_032638.5(GATA2):c.611G>A (p.Arg204Gln) SNV Uncertain significance 935470 GRCh37: 3:128204830-128204830
GRCh38: 3:128485987-128485987
43 GATA2 NM_032638.5(GATA2):c.732C>G (p.His244Gln) SNV Uncertain significance 937355 GRCh37: 3:128204709-128204709
GRCh38: 3:128485866-128485866
44 GATA2 NM_032638.5(GATA2):c.680G>A (p.Ser227Asn) SNV Uncertain significance 941243 GRCh37: 3:128204761-128204761
GRCh38: 3:128485918-128485918
45 GATA2 NM_032638.5(GATA2):c.1376T>C (p.Ile459Thr) SNV Uncertain significance 942923 GRCh37: 3:128199929-128199929
GRCh38: 3:128481086-128481086
46 GATA2 NM_032638.5(GATA2):c.592G>C (p.Ala198Pro) SNV Uncertain significance 944538 GRCh37: 3:128204849-128204849
GRCh38: 3:128486006-128486006
47 GATA2 NM_032638.5(GATA2):c.45C>A (p.Ala15=) SNV Uncertain significance 944883 GRCh37: 3:128205830-128205830
GRCh38: 3:128486987-128486987
48 GATA2 NM_032638.5(GATA2):c.248A>G (p.Gln83Arg) SNV Uncertain significance 951299 GRCh37: 3:128205193-128205193
GRCh38: 3:128486350-128486350
49 GATA2 NM_032638.5(GATA2):c.742A>T (p.Thr248Ser) SNV Uncertain significance 960045 GRCh37: 3:128204699-128204699
GRCh38: 3:128485856-128485856
50 GATA2 NM_032638.5(GATA2):c.779A>G (p.Tyr260Cys) SNV Uncertain significance 961088 GRCh37: 3:128204662-128204662
GRCh38: 3:128485819-128485819

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 21:

72
# Symbol AA change Variation ID SNP ID
1 GATA2 p.Pro254Leu VAR_066405 rs387906630
2 GATA2 p.Thr354Met VAR_066406 rs387906631
3 GATA2 p.Arg398Trp VAR_066407 rs387906629

Expression for Immunodeficiency 21

Search GEO for disease gene expression data for Immunodeficiency 21.

Pathways for Immunodeficiency 21

GO Terms for Immunodeficiency 21

Cellular components related to Immunodeficiency 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 CMG complex GO:0071162 8.96 MCM4 GINS1
2 transcription factor complex GO:0005667 8.92 SPI1 GATA2 GATA1 CEBPA

Biological processes related to Immunodeficiency 21 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.11 STAT1 SPI1 IRF8 GATA2 GATA1 CEBPA
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 STAT1 SPI1 IRF8 GATA2 GATA1 CEBPA
3 negative regulation of transcription by RNA polymerase II GO:0000122 10 STAT1 SPI1 IRF8 GATA2 GATA1 CEBPA
4 cytokine-mediated signaling pathway GO:0019221 9.83 STAT1 IL12RB1 IFNGR2 FLT3 CEBPA
5 cellular response to interferon-gamma GO:0071346 9.73 STAT1 IRF8 IL12RB1
6 hemopoiesis GO:0030097 9.67 GATA2 FLT3 ASXL1
7 negative regulation of fat cell differentiation GO:0045599 9.63 GATA2 ASXL1 ANKRD26
8 macrophage differentiation GO:0030225 9.58 SPI1 CEBPA
9 embryonic placenta development GO:0001892 9.58 GATA2 CEBPA
10 positive regulation of erythrocyte differentiation GO:0045648 9.58 STAT1 GATA2 GATA1
11 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.55 STAT1 IFNGR2
12 DNA strand elongation involved in DNA replication GO:0006271 9.54 MCM4 GINS1
13 granulocyte differentiation GO:0030851 9.51 SPI1 CEBPA
14 myeloid cell differentiation GO:0030099 9.43 IRF8 GATA1 CEBPA
15 eosinophil fate commitment GO:0035854 9.37 GATA2 GATA1
16 interleukin-6-mediated signaling pathway GO:0070102 9.33 STAT1 SPI1 CEBPA
17 regulation of primitive erythrocyte differentiation GO:0010725 9.32 GATA2 GATA1
18 interferon-gamma-mediated signaling pathway GO:0060333 9.26 STAT1 NCAM1 IRF8 IFNGR2
19 dendritic cell differentiation GO:0097028 8.8 IRF8 GATA1 FLT3

Molecular functions related to Immunodeficiency 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.55 STAT1 SPI1 GATA2 GATA1 CEBPA
2 C2H2 zinc finger domain binding GO:0070742 9.26 GATA2 GATA1
3 cytokine receptor activity GO:0004896 9.13 IL12RB1 IFNGR2 FLT3
4 DNA-binding transcription factor activity GO:0003700 9.1 STAT1 SPI1 IRF8 GATA2 GATA1 CEBPA

Sources for Immunodeficiency 21

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
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