IMD21
MCID: IMM078
MIFTS: 35

Immunodeficiency 21 (IMD21) malady

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

Aliases & Classifications for Immunodeficiency 21

Aliases & Descriptions for Immunodeficiency 21:

Name: Immunodeficiency 21 54 24 66 69
Monocytopenia and Mycobacterial Infection Syndrome 50 56 66
Monomac 50 56 66
Dendritic Cell, Monocyte, B Lymphocyte, and Natural Killer Lymphocyte Deficiency 50 13
Dendritic Cell Monocyte Lymphocyte B and Natural Killer Lymphocyte Deficiency 66 29
Monocytopenia with Susceptibility to Infections 50 56
Dcml 50 66
Monocytopenia with Susceptibility to Mycobacterial, Fungal, and Papillomavirus Infections and Myelodysplasia 50
Monocytopenia with Susceptibility to Mycobacterial Fungal and Papillomavirus Infections and Myelodysplasia 66
Combined Immunodeficiency with Susceptibility to Mycobacterial, Viral, and Fungal Infections 50
Combined Immunodeficiency with Susceptibility to Mycobacterial, Viral and Fungal Infections 56
Combined Immunodeficiency with Susceptibility to Mycobacterial Viral and Fungal Infections 66
Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome 56
Monocyte - B - Natural Killer - Dendritic Cell Deficiency 50
Dendritic Cell, Monocyte, B and Nk Lymphoid Deficiency 56
Imd21 66

Characteristics:

Orphanet epidemiological data:

56
monocytopenia with susceptibility to infections
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

HPO:

32
immunodeficiency 21:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 614172
Orphanet 56 ORPHA228423
ICD10 via Orphanet 34 D72.8
MedGen 40 C3280030
MeSH 42 D008231
ICD10 33 D81

Summaries for Immunodeficiency 21

OMIM : 54 This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent... (614172) more...

MalaCards based summary : Immunodeficiency 21, also known as monocytopenia and mycobacterial infection syndrome, is related to lymphedema and leukemia, and has symptoms including immunodeficiency, aplastic anemia and neutropenia. An important gene associated with Immunodeficiency 21 is GATA2 (GATA Binding Protein 2). The drugs Didanosine and Efavirenz have been mentioned in the context of this disorder. Affiliated tissues include monocytes, t cells and bone.

UniProtKB/Swiss-Prot : 66 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:

id Related Disease Score Top Affiliating Genes
1 lymphedema 9.9
2 leukemia 9.8
3 neutropenia 9.8

Symptoms & Phenotypes for Immunodeficiency 21

Symptoms by clinical synopsis from OMIM:

614172

Clinical features from OMIM:

614172

Human phenotypes related to Immunodeficiency 21:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 aplastic anemia 32 HP:0001915
3 neutropenia 32 HP:0001875
4 recurrent viral infections 32 HP:0004429
5 recurrent fungal infections 32 HP:0002841
6 monocytopenia 32 HP:0012312
7 recurrent mycobacterium avium complex infections 32 HP:0011275
8 abnormality of natural killer cells 32 HP:0012176

Drugs & Therapeutics for Immunodeficiency 21

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

(show top 50) (show all 353)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Didanosine Approved Phase 4,Phase 2,Phase 1 69655-05-6 50599
2
Efavirenz Approved, Investigational Phase 4,Phase 2,Phase 1 154598-52-4 64139
3
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 134678-17-4 60825
4
Clonidine Approved Phase 4 4205-90-7 2803
5
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 1 50-28-2 5757 53477783
6
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2 143491-57-0 60877
7
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2 147127-20-6 464205
8
Ledipasvir Approved Phase 4 1256388-51-8 67505836
9
Ribavirin Approved Phase 4,Phase 2 36791-04-5 37542
10
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
11
Nevirapine Approved Phase 4,Phase 3,Phase 2,Phase 1 129618-40-2 4463
12
Ritonavir Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 155213-67-5 392622
13
Rifampin Approved Phase 4,Phase 1 13292-46-1 5458213 5381226
14
Stavudine Approved, Investigational Phase 4,Phase 2,Phase 1 3056-17-5 18283
15
Pyrimethamine Approved, Vet_approved Phase 4 58-14-0 4993
16
Sulfadoxine Approved Phase 4 2447-57-6 17134
17
Isoniazid Approved Phase 4 54-85-3 3767
18
Pyrazinamide Approved Phase 4 98-96-4 1046
19
Lopinavir Approved Phase 4,Phase 2 192725-17-0 92727
20
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 59-30-3 6037
21
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2 58-05-9 54575, 6560146 143
22 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
24 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Cytochrome P-450 CYP2C9 Inhibitors Phase 4,Phase 2
26 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 2,Phase 1
27 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
28 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
29 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
30 Adrenergic Agents Phase 4,Phase 2
31 Adrenergic Agonists Phase 4
32 Adrenergic alpha-2 Receptor Agonists Phase 4
33 Adrenergic alpha-Agonists Phase 4
34 Analgesics Phase 4,Phase 2,Phase 3
35 Antihypertensive Agents Phase 4,Phase 2
36 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
37 Contraceptive Agents Phase 4,Phase 1,Phase 2
38 Estradiol 17 beta-cypionate Phase 4,Phase 1
39 Estradiol 3-benzoate Phase 4,Phase 1
40 Estradiol valerate Phase 4,Phase 1 979-32-8
41 Estrogens Phase 4,Phase 1
42 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
43 Hormones Phase 4,Phase 3,Phase 2,Phase 1
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
45 insulin Phase 4,Phase 2
46 Insulin, Globin Zinc Phase 4,Phase 2
47 Mitogens Phase 4
48 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Early Phase 1
49 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Polyestradiol phosphate Phase 4,Phase 1

Interventional clinical trials:

(show top 50) (show all 236)
id Name Status NCT ID Phase
1 Once Daily 3TC, Efavirenz and ddI for HIV Infection Unknown status NCT00214435 Phase 4
2 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4
3 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
4 Rapid Evaluation of Pandemic H1N1 Influenza Vaccine in Adults With HIV Completed NCT01002040 Phase 4
5 Program of Screening, Prevention and Elimination of Hepatitis C in Penitentiary Institutions in Cantabria (JAILFREE-C) Completed NCT02768961 Phase 4
6 Nevirapine vs. Atazanavir Boosted With Ritonavir on a Background of Truvada in Human Immunodeficiency Virus (HIV) Infected Naive Patients (NEwArT) Completed NCT00552240 Phase 4
7 Yoga for the Management of HIV-Metabolic Syndromes Completed NCT00627380 Phase 4
8 Nevirapine Drug Levels in HIV Positive Patients Also Receiving Rifampicin for Tuberculosis Completed NCT00617643 Phase 4
9 Intermittent Preventive Treatment of Malaria in HIV-Seropositive Pregnant Women in Zambia Completed NCT00270530 Phase 4
10 Immediate Versus Deferred Antiretroviral Therapy in HIV-infected Patients Presenting With Acute AIDS-defining Events Completed NCT01417949 Phase 4
11 A Randomized Trial of Three Regimens to Prevent Tuberculosis in HIV-Infected Patients With Anergy Completed NCT00402610 Phase 4
12 Evaluation of Three Regimens of Chemoprophylaxis for Tuberculosis in Patients co-Infected by HIV and Mycobacterium Tuberculosis Completed NCT00402454 Phase 4
13 Atazanavir/r + Lamivudine Dual Therapy Active, not recruiting NCT01599364 Phase 4
14 IgG Level in Primary Immunodeficiency Switching From Standard SCIG to Every Other Week HyQvia Not yet recruiting NCT02881437 Phase 4
15 Optimization of Antiretroviral Therapy Not yet recruiting NCT02935075 Phase 4
16 Assessment of the Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4
17 Pharmacokinetic Study of Two HIV Protease Inhibitors in Patients Terminated NCT00420355 Phase 4
18 HIV - Monotherapy in Switzerland (MOST-ch) Terminated NCT00531986 Phase 4
19 Efficacy and Safety Study of Kedrion IVIG 10% to Treat Subjects With Primary Immunodeficiency (PID) Unknown status NCT01581593 Phase 3
20 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Unknown status NCT00176826 Phase 2, Phase 3
21 A Pilot Study on Raltegravir, Tenofovir and Emtricitabine for Peri-exposure Prophylaxis for HIV Infection Unknown status NCT01697046 Phase 3
22 A Trial to Test the Efficacy of a Tailored Intensive Smoking Cessation Intervention in Persons With HIV (PWHs) Unknown status NCT01106638 Phase 3
23 Modified Dose and Schedule of Recombinant Hepatitis B Vaccination in HIV-infected Adult Subjects Unknown status NCT01289106 Phase 3
24 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
25 Pharmacokinetics, Efficacy, and Safety Study of RI-002 (IGIV) in Subjects With Primary Immunodeficiency Diseases (PIDD) Completed NCT01814800 Phase 3
26 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
27 Phase 3 Study of Immune Globulin Intravenous (Human)IVIG-SN™ in Subjects With Primary Immunodeficiency Completed NCT01406470 Phase 3
28 Evaluation of Diagnostic HIV Ag/Ab Combo Assay Completed NCT00933933 Phase 3
29 Rollover Trial Safety and Tolerability of Combination Tipranavir and Ritonavir Use in HIV 1 Infected Subjects Completed NCT00146328 Phase 2, Phase 3
30 Randomized Evaluation of Strategic Intervention in Multidrug Resistant Patients With Tipranavir (RESIST) Completed NCT00054717 Phase 3
31 Lamivudine and Adefovir to Treat Chronic Hepatitis B Infection in People With and Without HIV Infection Completed NCT00023153 Phase 3
32 Antibiotics to Reduce Chorioamnionitis-Related Perinatal HIV Transmission Completed NCT00021671 Phase 3
33 Interactions Between HIV and Malaria in African Children Completed NCT00527800 Phase 3
34 Treatment of Chronic Granulomatous Disease With Allogeneic Stem Cell Transplantation Versus Standard of Care Completed NCT00023192 Phase 3
35 Studies of Ocular Complications of AIDS (SOCA)--Ganciclovir-Cidofovir CMV Retinitis Trial (GCCRT) Completed NCT00000143 Phase 3
36 Study of Immune Globulin Intravenous (Human) GC5107 in Subjects With Primary Humoral Immunodeficiency Recruiting NCT02783482 Phase 3
37 HIV & Drug Abuse Prevention for South African Men Recruiting NCT02358226 Phase 3
38 A Prospective, Open-label Trial of Two ABC/3TC Based Regimens in Late Presenter naïve Patients (CD4 <200 Cells/µL) Recruiting NCT01900106 Phase 3
39 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3
40 Efficacy, Safety and Kinetics Study of Octagam 10% in Primary Immunodeficiency Diseases Terminated NCT00811174 Phase 3
41 Eltrombopag To Reduce The Need For Platelet Transfusion In Subjects With Chronic Liver Disease And Thrombocytopenia Undergoing Elective Invasive Procedures Terminated NCT00678587 Phase 3
42 DB289 Versus TMP-SMX for the Treatment of Acute Pneumocystis Jiroveci Pneumonia (PCP) Terminated NCT00302341 Phase 3
43 Paradoxical Tuberculosis Immune Reconstitution Inflammatory Syndrome (TB-IRIS) Treatment Trial Withdrawn NCT01442428 Phase 2, Phase 3
44 A Study of Selumetinib in Patients With Kaposi's Sarcoma Unknown status NCT01752569 Phase 1, Phase 2
45 Safety of and Immunogenicity to an H1N1 Influenza Vaccine in HIV-infected Adults Unknown status NCT01155037 Phase 2
46 Bisphosphonate Therapy for HIV-Infected Adults With Decreased Bone Mineral Density Unknown status NCT00102908 Phase 2
47 Short Term Intensified Chemo-immunotherapy in HIV-positive Patients With Burkitt Lymphoma Unknown status NCT01516593 Phase 2
48 Safety, Pharmacokinetic and Efficacy Study of a 10% Triple Virally Reduced Intravenous Immune Globulin Solution in Patients With Primary Immunodeficiency (Hypo- or Agammaglobulinemia) Completed NCT00161993 Phase 2
49 A Study to Determine the Antiviral Activity of TMC310911 When Administered With Ritonavir in Treatment-Naive Human Immunodeficiency Virus - Type 1 (HIV-1) Infected Patients Completed NCT00838162 Phase 2
50 H1N1 Vaccine at Two Dose Levels in HIV Positive Adults Completed NCT00992433 Phase 2

Search NIH Clinical Center for Immunodeficiency 21

Genetic Tests for Immunodeficiency 21

Genetic tests related to Immunodeficiency 21:

id Genetic test Affiliating Genes
1 Dendritic Cell, Monocyte, B Lymphocyte, and Natural Killer Lymphocyte Deficiency 29
2 Immunodeficiency 21 24 GATA2

Anatomical Context for Immunodeficiency 21

MalaCards organs/tissues related to Immunodeficiency 21:

39
Monocytes, T Cells, Bone, Myeloid, Bone Marrow

Publications for Immunodeficiency 21

Variations for Immunodeficiency 21

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

66
id 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

ClinVar genetic disease variations for Immunodeficiency 21:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 GATA2 NM_001145661.1(GATA2): c.1192C> T (p.Arg398Trp) single nucleotide variant Pathogenic/Likely pathogenic rs387906629 GRCh37 Chromosome 3, 128200113: 128200113
2 GATA2 NM_001145661.1(GATA2): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs387906630 GRCh37 Chromosome 3, 128204680: 128204680
3 GATA2 NM_001145661.1(GATA2): c.1061C> T (p.Thr354Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs387906631 GRCh37 Chromosome 3, 128200744: 128200744
4 GATA2 NM_001145661.1(GATA2): c.-200_871+527del2032 deletion Pathogenic GRCh38 Chromosome 3, 128485200: 128487231
5 GATA2 NM_001145661.1(GATA2): c.1084_1095delCGAAACGCCAAC (p.Arg362_Asn365del) deletion Pathogenic rs869320734 GRCh37 Chromosome 3, 128200710: 128200721
6 GATA2 NM_001145661.1(GATA2): c.243delAinsGC (p.Gly82Argfs) indel Pathogenic rs869320735 GRCh37 Chromosome 3, 128205198: 128205198
7 GATA2 NM_032638.4(GATA2): c.599dupG (p.Ser201Terfs) duplication Pathogenic rs768767517 GRCh37 Chromosome 3, 128204842: 128204842
8 GATA2 NM_001145661.1(GATA2): c.1018-1G> T single nucleotide variant Pathogenic rs869320668 GRCh37 Chromosome 3, 128200788: 128200788
9 GATA2 NM_001145661.1(GATA2): c.1017+513_1017+540del28 deletion Pathogenic GRCh37 Chromosome 3, 128202163: 128202190
10 GATA2 NM_032638.4(GATA2): c.1113C> A (p.Asn371Lys) single nucleotide variant Likely pathogenic rs376003468 GRCh38 Chromosome 3, 128481849: 128481849
11 GATA2 NM_001145661.1(GATA2): c.1021_1024dupGCCG (p.Ala342Glyfs) duplication Pathogenic rs869320770 GRCh38 Chromosome 3, 128481938: 128481941

Expression for Immunodeficiency 21

Search GEO for disease gene expression data for Immunodeficiency 21.

Pathways for Immunodeficiency 21

GO Terms for Immunodeficiency 21

Sources for Immunodeficiency 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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