IMD67
MCID: IMM222
MIFTS: 41

Immunodeficiency 67 (IMD67)

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

Aliases & Classifications for Immunodeficiency 67

MalaCards integrated aliases for Immunodeficiency 67:

Name: Immunodeficiency 67 57 73
Irak4 Deficiency 57 20 43 58 73 13
Immunodeficiency Due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency 58 29 6
Invasive Pneumococcal Disease, Recurrent Isolated, 1 29 6
Invasive Pneumococcal Disease, Recurrent Isolated 57 6
Irak-4 Deficiency 20 43
Imd67 57 73
Invasive Pneumococcal Disease, Recurrent Isolated; Ipd 57
Interleukin-1 Receptor-Associated Kinase 4 Deficiency 43
Recurrent Isolated Invasive Pneumococcal Disease 1 73
Interleukin Receptor-Associated Kinase Deficiency 20
Immunodeficiency, Type 67 39
Irak4 Deficiency; Ikak4d 57
Ikak4d 57
Irak4d 73
Ipd1 73
Ipd 57

Characteristics:

Orphanet epidemiological data:

58
immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM®:

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

Miscellaneous:
onset in infancy or early childhood
bacterial meningitis is often an initial infection
high death rate before age 8 years
the disease tends to abate with age
treatment with ivig or prophylactic antibiotics may be beneficial


HPO:

31
immunodeficiency 67:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 607676
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D84.8
UMLS via Orphanet 72 C1843256
Orphanet 58 ORPHA70592
MedGen 41 C1843256

Summaries for Immunodeficiency 67

OMIM® : 57 Immunodeficiency-67 (IMD67) is an autosomal recessive primary immunodeficiency characterized by recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae and Staphylococcus aureus; Pseudomonas and atypical Mycobacteria may also be observed. IMD67 is life-threatening in infancy and early childhood. The first invasive infection typically occurs before 2 years of age, with meningitis representing up to 41% of the bacterial infections. The mortality rate in early childhood is high, with most deaths occurring before 8 years of age. Affected individuals have an impaired inflammatory response to infection, including lack of fever and neutropenia, although erythrocyte sedimentation rate (ESR) and C-reactive protein may be elevated. General immunologic workup tends to be normal, with normal levels of B cells, T cells, and NK cells. However, more detailed studies indicate impaired cytokine response to lipopolysaccharide (LPS) and IL1B (147720) stimulation; response to TNFA (191160) is usually normal. Patients have good antibody responses to most vaccinations, with the notable exception of pneumococcal vaccination. Viral, fungal, and parasitic infections are not generally observed. Early detection is critical in early childhood because prophylactic treatment with IVIg or certain antibiotics is effective; the disorder tends to improve naturally around adolescence. At the molecular level, the disorder results from impaired function of selective Toll receptor (see TLR4, 603030)/IL1R (see IL1R1, 147810) signaling pathways that ultimately activate NFKB (164011) to produce cytokines (summary by Ku et al., 2007; Picard et al., 2010; Grazioli et al., 2016). See also IMD68 (612260), caused by mutation in the MYD88 gene (602170), which shows a similar phenotype to IMD67. As the MYD88 and IRAK4 genes interact in the same intracellular signaling pathway, the clinical and cellular features are almost indistinguishable (summary by Picard et al., 2010). (607676) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 67, also known as irak4 deficiency, is related to immunodeficiency 33 and leukocyte adhesion deficiency, type i. An important gene associated with Immunodeficiency 67 is IRAK4 (Interleukin 1 Receptor Associated Kinase 4). The drugs Fludarabine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are immunodeficiency and neutropenia

MedlinePlus Genetics : 43 IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.) The most common infections in IRAK-4 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent with age.Most people with IRAK-4 deficiency have invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the upper respiratory tract, skin, or eyes. Although fever is a common reaction to bacterial infections, many people with IRAK-4 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.

GARD : 20 IRAK-4 deficiency is a condition that affects the immune system (primary immunodeficiency). It causes recurring severe infections by a type of bacteria called pyogenic bacteria. Individuals with IRAK-4 deficiency seem to be particularly susceptible to infections caused by bacteria called Streptococcus pneumoniae. The deficiency is caused by mutations in the IRAK4 gene and is inherited in an autosomal recessive pattern. Treatment may include intravenous immunoglobulin therapy (IVIG), taking antibiotics before an infection develops, and vaccines. Althought the infections can be life-threatening, they tend to occur less often as a person gets older.

UniProtKB/Swiss-Prot : 73 Immunodeficiency 67: An autosomal recessive primary immunodeficiency characterized by recurrent, life-threatening systemic and invasive bacterial infections beginning in infancy or early childhood.

Related Diseases for Immunodeficiency 67

Diseases related to Immunodeficiency 67 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 33 11.7
2 leukocyte adhesion deficiency, type i 11.2
3 parkinsonism-dystonia, infantile, 1 11.0
4 immunodeficiency 68 10.9
5 shigellosis 10.3
6 bacterial infectious disease 10.2
7 peritonitis 10.2
8 osteomyelitis 10.2
9 tetanus 10.2
10 diphtheria 10.2
11 pericarditis 10.2
12 cerebritis 10.2
13 pleural empyema 10.2
14 cystitis 10.1
15 parkinson disease, late-onset 10.1
16 rickets 10.1
17 interstitial cystitis 10.1
18 contact dermatitis 10.1
19 spinal stenosis 10.0
20 meningitis 10.0
21 hypereosinophilic syndrome 10.0
22 pneumococcal meningitis 10.0
23 hyper ige syndrome 10.0
24 juvenile rheumatoid arthritis 10.0
25 arthritis 10.0
26 perniosis 10.0
27 asthma 9.9
28 dermatitis, atopic 9.9
29 body mass index quantitative trait locus 1 9.9
30 allergic rhinitis 9.9
31 malaria 9.9
32 pre-eclampsia 9.9
33 eclampsia 9.9
34 rhinitis 9.9
35 pneumonia 9.9
36 cytokine deficiency 9.9
37 back pain 9.9
38 tremor 9.9
39 dilated cardiomyopathy 9.9
40 lymphadenitis 9.9
41 cervical adenitis 9.9
42 encephalitis 9.9
43 autonomic dysfunction 9.9
44 enterocolitis 9.8
45 properdin deficiency, x-linked 9.8
46 supranuclear palsy, progressive, 1 9.8
47 stroke, ischemic 9.8
48 yemenite deaf-blind hypopigmentation syndrome 9.8
49 branchiootic syndrome 1 9.8
50 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8

Graphical network of the top 20 diseases related to Immunodeficiency 67:



Diseases related to Immunodeficiency 67

Symptoms & Phenotypes for Immunodeficiency 67

Human phenotypes related to Immunodeficiency 67:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
2 neutropenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001875
3 recurrent streptococcus pneumoniae infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0005366
4 recurrent staphylococcal infections 58 31 very rare (1%) Very frequent (99-80%) HP:0007499
5 liver abscess 31 very rare (1%) HP:0100523
6 recurrent streptococcal infections 31 very rare (1%) HP:0020096
7 increased circulating ige level 31 very rare (1%) HP:0003212
8 recurrent bacterial infections 58 Very frequent (99-80%)
9 transient neutropenia 31 HP:0410255

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Immunology:
neutropenia
recurrent invasive bacterial infections
streptococcus pneumonia
staphylococcus aureus
pseudomonas aeruginosa
more
Laboratory Abnormalities:
increased c-reactive protein
increased esr

Metabolic Features:
no or attenuated fever

Prenatal Manifestations Placenta And Umbilical Cord:
delayed umbilical cord separation

Neurologic Central Nervous System:
bacterial meningitis

Clinical features from OMIM®:

607676 (Updated 05-Mar-2021)

Drugs & Therapeutics for Immunodeficiency 67

Drugs for Immunodeficiency 67 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
2
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
3 Immunosuppressive Agents Phase 1
4 Immunologic Factors Phase 1
5 Antirheumatic Agents Phase 1
6 Alkylating Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study of Autologous Anti-CD19 4-1BB CAR T Cells With Cell-intrinsic PD1 Inhibition in Relapsed or Refractory B-cell Lymphoma Unknown status NCT03208556 Phase 1 Fludarabine and cyclophosphamide
2 What is the Incidence of an Immune Disorder in Children With Invasive Pneumococcal Disease (IPD)? A Prospective Cohort Study. Recruiting NCT03815357
3 Evaluation of the Relationship Between Anti-PD-1 Exposure and Tumour VOLUME in Patients Treated for Classical HODgkin's Lymphoma. Not yet recruiting NCT04621604

Search NIH Clinical Center for Immunodeficiency 67

Genetic Tests for Immunodeficiency 67

Genetic tests related to Immunodeficiency 67:

# Genetic test Affiliating Genes
1 Immunodeficiency Due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency 29 IRAK4
2 Invasive Pneumococcal Disease, Recurrent Isolated, 1 29

Anatomical Context for Immunodeficiency 67

MalaCards organs/tissues related to Immunodeficiency 67:

40
T Cells, Nk Cells, B Cells, Spinal Cord, Liver, Neutrophil, Myeloid

Publications for Immunodeficiency 67

Articles related to Immunodeficiency 67:

(show all 32)
# Title Authors PMID Year
1
Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report. 61 57 6
26825884 2016
2
Cellular and humoral aberrations in a kindred with IL-1 receptor-associated kinase 4 deficiency. 57 6
17544092 2007
3
TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway. 57 6
17878374 2007
4
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease. 57 6
16950813 2007
5
Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency: rapid screening by flow cytometer. 57 6
16647421 2006
6
Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4. 6 57
15520784 2004
7
Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. 57 6
12925671 2003
8
Pyogenic bacterial infections in humans with IRAK-4 deficiency. 57 6
12637671 2003
9
Interleukin 12 deficiency associated with recurrent infections. 57 6
9789052 1998
10
IRAK-4 deficiency as a cause for familial fatal invasive infection by Streptococcus pneumoniae. 57
26698383 2016
11
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. 57
21057262 2010
12
Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency. 57
19414794 2009
13
Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. 57
17893200 2007
14
IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells. 6
17114497 2006
15
Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses. 57
15069404 2004
16
Endotoxin and IL-1 hyporesponsiveness in a patient with recurrent bacterial infections. 57
9103466 1997
17
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation. 61
33083971 2021
18
Pneumococcal Serotype-specific Opsonophagocytic Activity in Interleukin-1 Receptor-associated Kinase 4-deficient Patients. 61
33470775 2021
19
Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant. 61
32532880 2020
20
Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature. 61
29531937 2018
21
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness. 61
28702714 2017
22
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature. 61
28503543 2017
23
Tuberculosis in HIV-infected children in Europe, Thailand and Brazil: paediatric TB-HIV EuroCoord study. 61
27776584 2016
24
IRAK4 deficiency promotes cardiac remodeling induced by pressure overload. 61
26884959 2015
25
Interleukin-1 receptor-associated kinase-4 (IRAK4) promotes inflammatory osteolysis by activating osteoclasts and inhibiting formation of foreign body giant cells. 61
25404736 2015
26
A coding IRAK2 protein variant compromises Toll-like receptor (TLR) signaling and is associated with colorectal cancer survival. 61
24973222 2014
27
Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. 61
24316379 2014
28
IRAK4 turns IL-10+ phospho-FOXO+ monocytes into pro-inflammatory cells by suppression of protein kinase B. 61
23519847 2013
29
Robust TLR4-induced gene expression patterns are not an accurate indicator of human immunity. 61
20105294 2010
30
Flow cytometric investigation of neutrophil oxidative burst and apoptosis in physiological and pathological situations. 61
19358285 2009
31
Recurrent systemic pneumococcal disease and IRAK4 deficiency. 61
17984826 2007
32
Towards subtlety: understanding the role of Toll-like receptor signaling in susceptibility to human infections. 61
16563867 2006

Variations for Immunodeficiency 67

ClinVar genetic disease variations for Immunodeficiency 67:

6 (show top 50) (show all 134)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IRAK4 NM_016123.3(IRAK4):c.1189-1G>T SNV Pathogenic 3841 rs1565688667 12:44180201-44180201 12:43786398-43786398
2 IRAK4 NM_016123.3(IRAK4):c.821del (p.Leu274fs) Deletion Pathogenic 3838 rs1565678077 12:44171537-44171537 12:43777734-43777734
3 IRAK4 NM_016123.3(IRAK4):c.877C>T (p.Gln293Ter) SNV Pathogenic 3839 rs121908002 12:44172041-44172041 12:43778238-43778238
4 IRAK4 NM_016123.4(IRAK4):c.623_624del (p.Thr208fs) Microsatellite Pathogenic 3840 12:44166844-44166845 12:43773041-43773042
5 IRAK4 NM_016123.3(IRAK4):c.1188+520A>G SNV Pathogenic 3842 rs944235493 12:44178047-44178047 12:43784244-43784244
6 IRAK4 NM_016123.3(IRAK4):c.831+5G>T SNV Pathogenic 30610 rs758539498 12:44171552-44171552 12:43777749-43777749
7 IRAK4 NM_001145256.1(IRAK4):c.-65-898del Deletion Pathogenic 464933 rs1555167566 12:44165082-44165082 12:43771279-43771279
8 IRAK4 NM_016123.3(IRAK4):c.88G>T (p.Glu30Ter) SNV Pathogenic 533523 rs1443126481 12:44162002-44162002 12:43768199-43768199
9 IRAK4 NM_016123.3(IRAK4):c.547C>T (p.Arg183Ter) SNV Pathogenic 567326 rs114951157 12:44166771-44166771 12:43772968-43772968
10 IRAK4 NM_016123.4(IRAK4):c.869_885del (p.Lys290fs) Deletion Pathogenic 846951 12:44172029-44172045 12:43778226-43778242
11 IRAK4 NM_016123.4(IRAK4):c.1049del (p.Gly350fs) Deletion Pathogenic 870469 12:44176215-44176215 12:43782412-43782412
12 IRAK4 NM_016123.4(IRAK4):c.524del (p.Asn175fs) Deletion Pathogenic 929845 12:44166747-44166747 12:43772944-43772944
13 IRAK4 NM_016123.4(IRAK4):c.123dup (p.Pro42fs) Duplication Pathogenic 929846 12:44162031-44162032 12:43768228-43768229
14 IRAK4 NM_016123.4(IRAK4):c.781del (p.Val261fs) Deletion Pathogenic 853817 12:44171497-44171497 12:43777694-43777694
15 IRAK4 NM_016123.4(IRAK4):c.518T>A (p.Leu173Ter) SNV Pathogenic 858438 12:44166742-44166742 12:43772939-43772939
16 IRAK4 NM_016123.3(IRAK4):c.717-1G>T SNV Likely pathogenic 464935 rs1555169270 12:44171432-44171432 12:43777629-43777629
17 IRAK4 NC_000012.11:g.(?_44177445)_(44180538_?)del Deletion Likely pathogenic 464931 12:44177445-44180538
18 IRAK4 NM_016123.3(IRAK4):c.291G>A (p.Ala97=) SNV Conflicting interpretations of pathogenicity 464934 rs17851028 12:44165152-44165152 12:43771349-43771349
19 IRAK4 NM_016123.3(IRAK4):c.720T>C (p.Cys240=) SNV Conflicting interpretations of pathogenicity 308729 rs144854858 12:44171436-44171436 12:43777633-43777633
20 IRAK4 NM_016123.4(IRAK4):c.13A>G (p.Ile5Val) SNV Conflicting interpretations of pathogenicity 763737 rs56312115 12:44161927-44161927 12:43768124-43768124
21 IRAK4 NM_016123.4(IRAK4):c.93A>T (p.Gly31=) SNV Uncertain significance 836870 12:44162007-44162007 12:43768204-43768204
22 IRAK4 NM_016123.3(IRAK4):c.1188+520A>G SNV Uncertain significance 3842 rs944235493 12:44178047-44178047 12:43784244-43784244
23 IRAK4 NM_016123.4(IRAK4):c.610T>G (p.Tyr204Asp) SNV Uncertain significance 843824 12:44166834-44166834 12:43773031-43773031
24 IRAK4 NM_016123.4(IRAK4):c.1229T>C (p.Ile410Thr) SNV Uncertain significance 847662 12:44180242-44180242 12:43786439-43786439
25 IRAK4 NM_016123.4(IRAK4):c.*2374A>G SNV Uncertain significance 880552 12:44182892-44182892 12:43789089-43789089
26 IRAK4 NM_016123.4(IRAK4):c.*2666G>A SNV Uncertain significance 880553 12:44183184-44183184 12:43789381-43789381
27 IRAK4 NC_000012.12:g.43758937G>T SNV Uncertain significance 881398 12:44152740-44152740 12:43758937-43758937
28 IRAK4 NM_016123.4(IRAK4):c.-65C>A SNV Uncertain significance 881399 12:44152764-44152764 12:43758961-43758961
29 IRAK4 NM_016123.4(IRAK4):c.-5A>G SNV Uncertain significance 881400 12:44161910-44161910 12:43768107-43768107
30 IRAK4 NM_016123.4(IRAK4):c.*629T>G SNV Uncertain significance 881455 12:44181147-44181147 12:43787344-43787344
31 IRAK4 NM_016123.4(IRAK4):c.103T>A (p.Leu35Ile) SNV Uncertain significance 881838 12:44162017-44162017 12:43768214-43768214
32 IRAK4 NM_016123.4(IRAK4):c.548G>A (p.Arg183Gln) SNV Uncertain significance 881839 12:44166772-44166772 12:43772969-43772969
33 IRAK4 NM_016123.4(IRAK4):c.*1187C>T SNV Uncertain significance 881892 12:44181705-44181705 12:43787902-43787902
34 IRAK4 NM_016123.4(IRAK4):c.*1199G>A SNV Uncertain significance 881893 12:44181717-44181717 12:43787914-43787914
35 IRAK4 NM_016123.4(IRAK4):c.*1289C>A SNV Uncertain significance 881894 12:44181807-44181807 12:43788004-43788004
36 IRAK4 NM_016123.4(IRAK4):c.*1515C>T SNV Uncertain significance 881895 12:44182033-44182033 12:43788230-43788230
37 IRAK4 NM_016123.4(IRAK4):c.*2725C>G SNV Uncertain significance 881973 12:44183243-44183243 12:43789440-43789440
38 IRAK4 NM_016123.4(IRAK4):c.*2826G>A SNV Uncertain significance 881974 12:44183344-44183344 12:43789541-43789541
39 IRAK4 NM_016123.4(IRAK4):c.749G>A (p.Gly250Asp) SNV Uncertain significance 882995 12:44171465-44171465 12:43777662-43777662
40 IRAK4 NM_016123.4(IRAK4):c.1063A>T (p.Met355Leu) SNV Uncertain significance 882997 12:44176231-44176231 12:43782428-43782428
41 IRAK4 NM_016123.4(IRAK4):c.1125+8C>G SNV Uncertain significance 882998 12:44176301-44176301 12:43782498-43782498
42 IRAK4 NM_016123.4(IRAK4):c.*1588G>A SNV Uncertain significance 883067 12:44182106-44182106 12:43788303-43788303
43 IRAK4 NM_016123.4(IRAK4):c.*1594G>A SNV Uncertain significance 883068 12:44182112-44182112 12:43788309-43788309
44 IRAK4 NM_016123.4(IRAK4):c.*1753C>T SNV Uncertain significance 883069 12:44182271-44182271 12:43788468-43788468
45 IRAK4 NM_016123.4(IRAK4):c.*1876G>A SNV Uncertain significance 883070 12:44182394-44182394 12:43788591-43788591
46 IRAK4 NM_016123.4(IRAK4):c.*319A>G SNV Uncertain significance 883788 12:44180837-44180837 12:43787034-43787034
47 IRAK4 NM_016123.4(IRAK4):c.*512G>C SNV Uncertain significance 883789 12:44181030-44181030 12:43787227-43787227
48 IRAK4 NM_016123.4(IRAK4):c.*1925C>T SNV Uncertain significance 883841 12:44182443-44182443 12:43788640-43788640
49 IRAK4 NM_016123.4(IRAK4):c.*2014G>A SNV Uncertain significance 883842 12:44182532-44182532 12:43788729-43788729
50 IRAK4 NM_016123.4(IRAK4):c.467A>G (p.Lys156Arg) SNV Uncertain significance 860771 12:44166142-44166142 12:43772339-43772339

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 67:

73
# Symbol AA change Variation ID SNP ID
1 IRAK4 p.Arg12Cys VAR_072888 rs377584435
2 IRAK4 p.Gly298Asp VAR_072892 rs568782766

Expression for Immunodeficiency 67

Search GEO for disease gene expression data for Immunodeficiency 67.

Pathways for Immunodeficiency 67

GO Terms for Immunodeficiency 67

Sources for Immunodeficiency 67

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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