MCID: IMM078
MIFTS: 36

Immunodeficiency 21

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

Aliases & Classifications for Immunodeficiency 21

MalaCards integrated aliases for Immunodeficiency 21:

Name: Immunodeficiency 21 54 24 71 69
Dendritic Cell, Monocyte, B Lymphocyte, and Natural Killer Lymphocyte Deficiency 50 29 13
Monocytopenia and Mycobacterial Infection Syndrome 50 56 71
Monomac 50 56 71
Monocytopenia with Susceptibility to Infections 50 56
Dcml 50 71
Monocytopenia with Susceptibility to Mycobacterial, Fungal, and Papillomavirus Infections and Myelodysplasia 50
Monocytopenia with Susceptibility to Mycobacterial Fungal and Papillomavirus Infections and Myelodysplasia 71
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 71
Dendritic Cell Monocyte Lymphocyte B and Natural Killer Lymphocyte Deficiency 71
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 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

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


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 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)

MalaCards based summary : Immunodeficiency 21, also known as dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency, is related to lymphedema and leukemia, and has symptoms including neutropenia, immunodeficiency and recurrent viral infections. An important gene associated with Immunodeficiency 21 is GATA2 (GATA Binding Protein 2). The drugs Emtricitabine and Ledipasvir have been mentioned in the context of this disorder. Affiliated tissues include monocytes, bone and t cells.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on mendelian susceptibility to mycobacterial diseases and gata2 deficiency.

UniProtKB/Swiss-Prot : 71 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 myeloid leukemia 9.8

Symptoms & Phenotypes for Immunodeficiency 21

Symptoms via clinical synopsis from OMIM:

54

Immunology:
neutropenia
primary immunodeficiency
b-cell lymphopenia
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

Human phenotypes related to Immunodeficiency 21:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 neutropenia 32 HP:0001875
2 immunodeficiency 32 HP:0002721
3 recurrent viral infections 32 HP:0004429
4 monocytopenia 32 HP:0012312
5 aplastic anemia 32 occasional (7.5%) HP:0001915
6 recurrent fungal infections 32 HP:0002841
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 253)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2 143491-57-0 60877
2
Ledipasvir Approved Phase 4 1256388-51-8 67505836
3
Ribavirin Approved Phase 4 36791-04-5 37542
4
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
5
Nevirapine Approved Phase 4,Phase 2 129618-40-2 4463
6
Ritonavir Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 155213-67-5 392622
7
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 134678-17-4 60825
8
Lopinavir Approved Phase 4,Phase 2 192725-17-0 92727
9
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
10
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
11 Antibodies Phase 4,Phase 3,Phase 2,Phase 1
12 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1
13 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2
14 Vaccines Phase 4,Phase 2,Phase 1
15 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
17 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4,Phase 3,Phase 2
20 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
21 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
22
Tenofovir Phase 4,Phase 3,Phase 2 147127-20-6 464205
23 gamma-Globulins Phase 4,Phase 3,Phase 2
24 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2
25 Antimetabolites Phase 4,Phase 2,Phase 1
26 Hepatitis C Antibodies Phase 4
27 Ledipasvir, sofosbuvir drug combination Phase 4
28 Liver Extracts Phase 4,Phase 3,Phase 2
29 Atazanavir Sulfate Phase 4,Phase 2,Phase 1
30 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 2,Phase 1
31 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
32 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
33 HIV Protease Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
34
protease inhibitors Phase 4,Phase 2,Phase 3,Phase 1
35 Interferon-gamma Phase 4,Phase 2
36 interferons Phase 4,Phase 2,Phase 1
37 Nicotinic Acids Phase 4
38 Vitamin B3 Nutraceutical Phase 4
39
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1 55-98-1 2478
40
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1 50-18-0, 6055-19-2 2907
41
Tipranavir Approved, Investigational Phase 2, Phase 3 174484-41-4 65027
42
Adefovir Dipivoxil Approved, Investigational Phase 3,Phase 2 142340-99-6 60871
43
Ethanol Approved Phase 3,Phase 1 64-17-5 702
44 Alkylating Agents Phase 2, Phase 3,Phase 1
45 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
46 HIV Integrase Inhibitors Phase 3,Phase 2,Phase 1
47 Integrase Inhibitors Phase 3,Phase 2,Phase 1
48 Raltegravir Potassium Phase 3,Phase 1
49 Adefovir Phase 3,Phase 2
50 Pharmaceutical Solutions Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 138)

id Name Status NCT ID Phase Drugs
1 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
2 Rapid Evaluation of Pandemic H1N1 Influenza Vaccine in Adults With HIV Completed NCT01002040 Phase 4
3 Program of Screening, Prevention and Elimination of Hepatitis C in Penitentiary Institutions in Cantabria (JAILFREE-C) Completed NCT02768961 Phase 4 sofosbuvir;ledipasvir
4 Nevirapine vs. Atazanavir Boosted With Ritonavir on a Background of Truvada in Human Immunodeficiency Virus (HIV) Infected Naive Patients (NEwArT) Completed NCT00552240 Phase 4 tenofovir DF 300 mg QD;tenofovir DF 300 mg QD;emtricitabine 200 mg QD;emtricitabine 200 mg QD;Nevirapine 200 mg BID;Atazanavir 300 mg;Ritonavir 100 mg
5 IgG Level in Primary Immunodeficiency Switching From Standard SCIG to Every Other Week HyQvia Recruiting NCT02881437 Phase 4 IgHy10
6 Atazanavir/r + Lamivudine Dual Therapy Active, not recruiting NCT01599364 Phase 4 Atazanavir, ritonavir, lamivudine
7 Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4 IFN-gamma
8 Pharmacokinetic Study of Two HIV Protease Inhibitors in Patients Terminated NCT00420355 Phase 4 atazanavir;lopinavir/ritonavir
9 Efficacy and Safety Study of Kedrion IVIG 10% to Treat Subjects With Primary Immunodeficiency (PID) Unknown status NCT01581593 Phase 3
10 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Unknown status NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
11 A Pilot Study on Raltegravir, Tenofovir and Emtricitabine for Peri-exposure Prophylaxis for HIV Infection Unknown status NCT01697046 Phase 3 Truvada and Isentress
12 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
13 Pharmacokinetics, Efficacy, and Safety Study of RI-002 (IGIV) in Subjects With Primary Immunodeficiency Diseases (PIDD) Completed NCT01814800 Phase 3
14 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
15 Phase 3 Study of Immune Globulin Intravenous (Human)IVIG-SN™ in Subjects With Primary Immunodeficiency Completed NCT01406470 Phase 3 Immune Globulin Intravenous (Human) 5% Liquid, IVIG-SN™
16 Evaluation of Diagnostic HIV Ag/Ab Combo Assay Completed NCT00933933 Phase 3
17 Rollover Trial Safety and Tolerability of Combination Tipranavir and Ritonavir Use in HIV 1 Infected Subjects Completed NCT00146328 Phase 2, Phase 3 Tipranavir
18 Randomized Evaluation of Strategic Intervention in Multidrug Resistant Patients With Tipranavir (RESIST) Completed NCT00054717 Phase 3 Tipranavir;Ritonavir(r);Comparator Protease Inhibitor (CPI)
19 Lamivudine and Adefovir to Treat Chronic Hepatitis B Infection in People With and Without HIV Infection Completed NCT00023153 Phase 3 Adefovir Dipivoxil
20 Study of Immune Globulin Intravenous (Human) GC5107 in Subjects With Primary Humoral Immunodeficiency Recruiting NCT02783482 Phase 3
21 Study of PlasmaCap IG in Adults and Children With PIDD Recruiting NCT03238079 Phase 3
22 HIV & Drug Abuse Prevention for South African Men Recruiting NCT02358226 Phase 3
23 Efficacy, Safety and Kinetics Study of Octagam 10% in Primary Immunodeficiency Diseases Terminated NCT00811174 Phase 3 Octagam 10%
24 Eltrombopag To Reduce The Need For Platelet Transfusion In Subjects With Chronic Liver Disease And Thrombocytopenia Undergoing Elective Invasive Procedures Terminated NCT00678587 Phase 3 Eltrombopag;Placebo
25 A Study of Selumetinib in Patients With Kaposi's Sarcoma Unknown status NCT01752569 Phase 1, Phase 2 Selumetinib
26 Safety of and Immunogenicity to an H1N1 Influenza Vaccine in HIV-infected Adults Unknown status NCT01155037 Phase 2
27 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 Immune Globulin Intravenous (Human), 10% TVR (Triple Virally Reduced) Solution;Gammagard S/D (Solvent/Detergent)
28 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 TMC310911 75 mg twice daily;TMC310911 150 mg twice daily;TMC310911 300 mg twice daily;TMC310911 300 mg once daily;Ritonavir 100 mg twice daily;Ritonavir 100 mg once daily
29 H1N1 Vaccine at Two Dose Levels in HIV Positive Adults Completed NCT00992433 Phase 2
30 Relaxation Response With Acupuncture for HIV Patients Completed NCT00064740 Phase 2
31 Adefovir Dipivoxil to Treat Hepatitis B in HIV-Infected Patients Completed NCT00013702 Phase 2 Adefovir
32 The Use of Reiki for Patients With Advanced AIDS Completed NCT00032721 Phase 2
33 Immune Restoration by Lipoic Acid in AIDS Completed NCT00033176 Phase 2 Alpha Lipoic Acid
34 Lenalidomide in Treating Patients With AIDS-Associated Kaposi's Sarcoma Completed NCT01057121 Phase 1, Phase 2 Lenalidomide
35 Treatment of Depression With Massage in HIV Completed NCT00033852 Phase 2
36 A Double-Blind, Placebo-Controlled Trial of Paromomycin for Treatment of Cryptosporidiosis in Patients With Advanced HIV Disease and CD4 Counts Under 150 Cells/mm3 Completed NCT00000771 Phase 2 Paromomycin sulfate
37 Shedding, Immunogenicity and Safety of Quadrivalent Live Intranasal Influenza Vaccine (QLAIV) in HIV-infected Children and Young Adults Completed NCT02474901 Phase 2
38 Chemotherapy for Lung Cancer in HIV-positive Patients Completed NCT01296113 Phase 2 Chemotherapy
39 TMC125-TiDP35-C213: Safety and Antiviral Activity of Etravirine (TMC125) in Treatment-Experienced, HIV Infected Children and Adolescents Completed NCT00665847 Phase 2 Etravirine (TMC125);Optimized background regimen (OBR)
40 Chidamide in Combination With Antiretroviral Therapy for Eradication of the Latent HIV-1 Reservoir Completed NCT02513901 Phase 1, Phase 2 Chidamide
41 Positively Smoke Free on the Web (PSFW) for Smokers Living With HIV Completed NCT01570595 Phase 1, Phase 2
42 A Study of Targretin Capsules in Patients With AIDS-Related Kaposi's Sarcoma Completed NCT00002212 Phase 2 Bexarotene
43 Phase IIa Dose-ranging Study of GSK1349572 in HIV-1 Infected Adults Completed NCT00708110 Phase 2 GSK1349572;Placebo
44 AVX754 (a New Nucleoside Reverse Transcriptase Inhibitor [NRTI]) to Treat Drug-resistant HIV Completed NCT00126880 Phase 2 AVX754;3TC
45 Stem Cell Transplantation to Treat Leukocyte Adhesion Deficiency Completed NCT00031005 Phase 2
46 A Randomized, Double-Blind Study of 566C80 Versus Septra (Sulfamethoxazole/Trimethoprim) for the Treatment of Pneumocystis Carinii Pneumonia in AIDS Patients Completed NCT00000655 Phase 2 Atovaquone;Sulfamethoxazole-Trimethoprim
47 Comparison of Three Anti-HIV Regimens to Prevent Nevirapine Resistance in Women Who Take Nevirapine During Pregnancy Completed NCT00099632 Phase 2 Emtricitabine/Tenofovir Disoproxil Fumarate;Lamivudine/Zidovudine;Lopinavir/Ritonavir;single dose Nevirapine
48 Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Mutations Recruiting NCT01861106 Phase 2 Busulfan Test dose;Fludarabine(Fludara, Berlex Laboratories);Busulfan (Busulfex);Cyclophosphamide(CTX, Cytoxan);Equine Anti-Thymocyte Globulin
49 Study of Pomalidomide in Anal Cancer Precursors Recruiting NCT03113942 Phase 2 Pomalidomide 2 MG Oral Capsule [Pomalyst]
50 Pomalidomide for Kaposi Sarcoma in People With or Without HIV Recruiting NCT01495598 Phase 1, Phase 2 Pomalidomide

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, Bone, T Cells, Bone Marrow, Myeloid, B Cells, Nk Cells

Publications for Immunodeficiency 21

Variations for Immunodeficiency 21

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

71
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_032638.4(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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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