IMD73B
MCID: IMM229
MIFTS: 21

Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia (IMD73B)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and...

MalaCards integrated aliases for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia:

Name: Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia 57 12 6
Imd73b 57 12

Characteristics:

HPO:

31
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and...

OMIM® : 57 Immunodeficiency-73B with defective neutrophil chemotaxis (IMD73B) is an autosomal dominant immunologic disorder characterized by onset of recurrent infections in infancy or early childhood. Affected individuals develop respiratory infections, cellulitis, and severe invasive infections or sepsis; organisms include bacteria such as Staphylococcus, as well as viruses, fungi, and mycobacterial species. Laboratory studies show variable abnormalities, including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TRECs and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis. Hematopoietic stem cell transplantation is curative (summary by Hsu et al., 2019; review by Lougaris et al., 2020). (618986) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia, is also known as imd73b. An important gene associated with Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia is RAC2 (Rac Family Small GTPase 2). Affiliated tissues include neutrophil, nk cells and t cells, and related phenotypes are recurrent respiratory infections and recurrent otitis media

Disease Ontology : 12 A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has material basis in heterozygous gain-of-function mutation in RAC2 on chromosome 22q13.1.

Related Diseases for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and...

Symptoms & Phenotypes for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and...

Human phenotypes related to Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 very rare (1%) HP:0002205
2 recurrent otitis media 31 very rare (1%) HP:0000403
3 pulmonary fibrosis 31 very rare (1%) HP:0002206
4 cellulitis 31 very rare (1%) HP:0100658
5 neutropenia 31 very rare (1%) HP:0001875
6 recurrent pneumonia 31 very rare (1%) HP:0006532
7 sepsis 31 very rare (1%) HP:0100806
8 pancytopenia 31 very rare (1%) HP:0001876
9 hepatosplenomegaly 31 very rare (1%) HP:0001433
10 leukopenia 31 very rare (1%) HP:0001882
11 bronchiectasis 31 very rare (1%) HP:0002110
12 decreased circulating igg level 31 very rare (1%) HP:0004315
13 generalized lymphadenopathy 31 very rare (1%) HP:0008940
14 monocytopenia 31 very rare (1%) HP:0012312
15 b lymphocytopenia 31 very rare (1%) HP:0010976
16 lymphadenitis 31 very rare (1%) HP:0002840
17 impaired neutrophil chemotaxis 31 very rare (1%) HP:0040238
18 abnormally low t cell receptor excision circle level 31 very rare (1%) HP:0031545
19 severe varicella zoster infection 31 very rare (1%) HP:0032170
20 decreased lymphocyte proliferation in response to anti-cd3 31 very rare (1%) HP:0031382
21 chronic bronchitis 31 very rare (1%) HP:0004469
22 t lymphocytopenia 31 very rare (1%) HP:0005403
23 chronic pulmonary obstruction 31 very rare (1%) HP:0006510
24 partial absence of specific antibody response to haemophilus influenzae type b (hib) vaccine 31 very rare (1%) HP:0410305
25 recurrent sinusitis 31 HP:0011108

Clinical features from OMIM®:

618986 (Updated 05-Mar-2021)

Drugs & Therapeutics for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and...

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia

Genetic Tests for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and...

Anatomical Context for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and...

MalaCards organs/tissues related to Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia:

40
Neutrophil, Nk Cells, T Cells

Publications for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and...

Articles related to Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia:

# Title Authors PMID Year
1
Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections. 6 57
31071452 2019
2
Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects. 6 57
30723080 2019
3
A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency. 57 6
30654050 2019
4
RAC2 and primary human immune deficiencies. 57
32542921 2020
5
A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease. 57
31382036 2020
6
The RAC2-PI3K axis regulates human NK cell maturation and function. 57
31491520 2019

Variations for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and...

ClinVar genetic disease variations for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAC2 NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) SNV Pathogenic 464885 rs1555908409 22:37628882-37628882 22:37232842-37232842
2 RAC2 NM_002872.5(RAC2):c.101C>A (p.Pro34His) SNV Pathogenic 977224 22:37637633-37637633 22:37241593-37241593
3 RAC2 NM_002872.5(RAC2):c.275A>C (p.Asn92Thr) SNV Pathogenic 977225 22:37627985-37627985 22:37231945-37231945

Expression for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and...

Search GEO for disease gene expression data for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia.

Pathways for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and...

GO Terms for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and...

Sources for Immunodeficiency 73b with Defective Neutrophil Chemotaxis and...

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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