IMD73A
MCID: IMM223
MIFTS: 27

Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis (IMD73A)

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

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

MalaCards integrated aliases for Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis:

Name: Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis 57 12
Neutrophil Immunodeficiency Syndrome 57 12 58 73 29 13 6 44 39
Imd73a 57 12
Immunodeficiency 73a with Defective Neutrophil Chemotaxix and Leukocytosis 57
Neuid 73

Characteristics:

Orphanet epidemiological data:

58
neutrophil immunodeficiency syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

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

Miscellaneous:
onset in infancy
de novo mutation
two unrelated patients have been reported (last curated august 2020)


HPO:

31
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0112064
OMIM® 57 608203
OMIM Phenotypic Series 57 PS300755
SNOMED-CT 67 723443003
ICD10 via Orphanet 33 D71
UMLS via Orphanet 72 C1842398
Orphanet 58 ORPHA183707
MedGen 41 C1842398
UMLS 71 C1842398

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

OMIM® : 57 Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections. Laboratory studies show leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities. Neutrophils showed decreased chemotaxis associated with actin polymerization abnormalities, as well as variably impaired oxidative responses. Hematopoietic stem cell transplant may be curative (summary by Accetta et al., 2011; review by Lougaris et al., 2020). (608203) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis, also known as neutrophil immunodeficiency syndrome, is related to immune deficiency disease and bacterial infectious disease. An important gene associated with Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis is RAC2 (Rac Family Small GTPase 2). Affiliated tissues include neutrophil, and related phenotypes are immunodeficiency and leukocytosis

Disease Ontology : 12 A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has material basis in heterozygous loss of function mutation in RAC2 on chromosome 22q13.1.

UniProtKB/Swiss-Prot : 73 Neutrophil immunodeficiency syndrome: An immunodeficiency syndrome due to defective neutrophils. Affected individuals present with leukocytosis, neutrophilia, severe recurrent bacterial infections and poor wound healing.

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

Diseases related to Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 9.9
2 bacterial infectious disease 9.9

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

Human phenotypes related to Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
2 leukocytosis 58 31 very rare (1%) Very frequent (99-80%) HP:0001974
3 poor wound healing 58 31 very rare (1%) Very frequent (99-80%) HP:0001058
4 abnormality of neutrophil physiology 58 31 hallmark (90%) Very frequent (99-80%) HP:0011990
5 macrocytic anemia 31 very rare (1%) HP:0001972
6 neutrophilia 31 very rare (1%) HP:0011897
7 rectal abscess 31 very rare (1%) HP:0005224
8 impaired neutrophil chemotaxis 31 very rare (1%) HP:0040238
9 abnormally low t cell receptor excision circle level 31 very rare (1%) HP:0031545
10 delayed umbilical cord separation 31 very rare (1%) HP:0032434
11 neonatal omphalitis 31 very rare (1%) HP:0032435
12 impaired oxidative burst 31 very rare (1%) HP:0003203
13 urachal cyst 31 very rare (1%) HP:0012618

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Immunology:
immunodeficiency
recurrent infections
neutrophilia
lymphocytosis
invasive infections
more
Prenatal Manifestations Placenta And Umbilical Cord:
delayed umbilical cord separation

Abdomen External Features:
delayed umbilical cord separation
umbilical area infection

Skin Nails Hair Skin:
skin abscesses

Clinical features from OMIM®:

608203 (Updated 05-Mar-2021)

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

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis

Cochrane evidence based reviews: neutrophil immunodeficiency syndrome

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

Genetic tests related to Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis:

# Genetic test Affiliating Genes
1 Neutrophil Immunodeficiency Syndrome 29 RAC2

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

MalaCards organs/tissues related to Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis:

40
Neutrophil

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

Articles related to Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis:

# Title Authors PMID Year
1
Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. 61 6 57
10758162 2000
2
Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia. 57 6
21167572 2011
3
Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency. 6 57
10961859 2000
4
RAC2 and primary human immune deficiencies. 57
32542921 2020

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

ClinVar genetic disease variations for Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis:

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAC2 NM_002872.5(RAC2):c.169G>A (p.Asp57Asn) SNV Pathogenic 7575 rs74315507 22:37628897-37628897 22:37232857-37232857
2 RAC2 NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) SNV Pathogenic 464885 rs1555908409 22:37628882-37628882 22:37232842-37232842
3 RAC2 NM_002872.5(RAC2):c.545C>T (p.Thr182Met) SNV Conflicting interpretations of pathogenicity 577450 rs141308774 22:37622747-37622747 22:37226707-37226707
4 RAC2 NM_002872.5(RAC2):c.88G>A (p.Gly30Arg) SNV Uncertain significance 854323 22:37637646-37637646 22:37241606-37241606
5 RAC2 NM_002872.5(RAC2):c.187G>A (p.Asp63Asn) SNV Uncertain significance 857374 22:37628879-37628879 22:37232839-37232839
6 RAC2 NM_002872.5(RAC2):c.229G>A (p.Val77Ile) SNV Uncertain significance 942731 22:37628031-37628031 22:37231991-37231991
7 RAC2 NM_002872.5(RAC2):c.547C>T (p.Arg183Trp) SNV Uncertain significance 432838 rs138762569 22:37622745-37622745 22:37226705-37226705
8 RAC2 NM_002872.5(RAC2):c.571C>T (p.Leu191Phe) SNV Uncertain significance 961653 22:37622721-37622721 22:37226681-37226681
9 RAC2 NM_002872.5(RAC2):c.276C>G (p.Asn92Lys) SNV Uncertain significance 966254 22:37627984-37627984 22:37231944-37231944
10 RAC2 NM_002872.5(RAC2):c.203G>A (p.Arg68Gln) SNV Uncertain significance 973661 22:37628863-37628863 22:37232823-37232823
11 RAC2 NM_002872.5(RAC2):c.108-8C>G SNV Uncertain significance 638470 rs1601672720 22:37628966-37628966 22:37232926-37232926
12 RAC2 NM_002872.5(RAC2):c.281G>A (p.Arg94His) SNV Uncertain significance 647415 rs780585104 22:37627979-37627979 22:37231939-37231939
13 RAC2 NM_002872.5(RAC2):c.548G>A (p.Arg183Gln) SNV Uncertain significance 647647 rs770795800 22:37622744-37622744 22:37226704-37226704
14 RAC2 NM_002872.5(RAC2):c.449-3C>T SNV Uncertain significance 649161 rs367947647 22:37622846-37622846 22:37226806-37226806
15 RAC2 NM_002872.5(RAC2):c.32A>T (p.Asp11Val) SNV Uncertain significance 657624 rs1445302825 22:37640157-37640157 22:37244117-37244117
16 RAC2 NM_002872.5(RAC2):c.31G>A (p.Asp11Asn) SNV Uncertain significance 663023 rs1601679010 22:37640158-37640158 22:37244118-37244118
17 RAC2 NM_002872.5(RAC2):c.147G>A (p.Lys49=) SNV Likely benign 732150 rs140543568 22:37628919-37628919 22:37232879-37232879
18 RAC2 NM_002872.5(RAC2):c.282C>T (p.Arg94=) SNV Likely benign 758336 rs201989515 22:37627978-37627978 22:37231938-37231938
19 RAC2 NM_002872.5(RAC2):c.562G>A (p.Ala188Thr) SNV Likely benign 803686 rs758461304 22:37622730-37622730 22:37226690-37226690
20 RAC2 NM_002872.5(RAC2):c.364G>A (p.Asp122Asn) SNV Likely benign 803687 rs910521882 22:37627355-37627355 22:37231315-37231315
21 RAC2 NM_002872.5(RAC2):c.501C>T (p.Thr167=) SNV Benign 533473 rs79799102 22:37622791-37622791 22:37226751-37226751
22 RAC2 NM_002872.5(RAC2):c.252C>T (p.Leu84=) SNV Benign 378454 rs2230919 22:37628008-37628008 22:37231968-37231968

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis:

73
# Symbol AA change Variation ID SNP ID
1 RAC2 p.Asp57Asn VAR_017452 rs74315507

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

Search GEO for disease gene expression data for Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis.

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

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

Sources for Immunodeficiency 73a 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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