IMD26
MCID: IMM185
MIFTS: 31

Immunodeficiency 26 with or Without Neurologic Abnormalities (IMD26)

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

Aliases & Classifications for Immunodeficiency 26 with or Without Neurologic Abnormalities

MalaCards integrated aliases for Immunodeficiency 26 with or Without Neurologic Abnormalities:

Name: Immunodeficiency 26 with or Without Neurologic Abnormalities 57 72 29 6 70
Imd26 57 72
Immunodeficiency, Type 26, with or Without Neurologic Abnormalities 39
Immunodeficiency 26, with or Without Neurologic Abnormalities 57
Severe Combined Immunodeficiency Due to Dna-Pkcs Deficiency 58
Immunodeficiency 26 Without Neurologic Abnormalities 6
Scid Due to Dna-Pkcs Deficiency 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
two unrelated patients have been reported, 1 with normal neurologic development and the other with profound neurologic abnormalities (last curated august 2014)


HPO:

31
immunodeficiency 26 with or without neurologic abnormalities:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Immunodeficiency 26 with or Without Neurologic Abnormalities

UniProtKB/Swiss-Prot : 72 Immunodeficiency 26 with or without neurologic abnormalities: A form of severe combined immunodeficiency characterized by reduced or absent T and B cells, recurrent candidiasis, and lower respiratory tract infections. Some patients show dysmorphic features, severe growth failure, microcephaly, seizures, and impaired neurological functions.

MalaCards based summary : Immunodeficiency 26 with or Without Neurologic Abnormalities, also known as imd26, is related to immunodeficiency 26. An important gene associated with Immunodeficiency 26 with or Without Neurologic Abnormalities is PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit). Affiliated tissues include b cells, eye and brain, and related phenotypes are wide nasal bridge and sensorineural hearing impairment

More information from OMIM: 615966 PS300755

Related Diseases for Immunodeficiency 26 with or Without Neurologic Abnormalities

Diseases related to Immunodeficiency 26 with or Without Neurologic Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 26 11.5

Symptoms & Phenotypes for Immunodeficiency 26 with or Without Neurologic Abnormalities

Human phenotypes related to Immunodeficiency 26 with or Without Neurologic Abnormalities:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 wide nasal bridge 31 occasional (7.5%) HP:0000431
2 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
3 visual impairment 31 occasional (7.5%) HP:0000505
4 prominent forehead 31 occasional (7.5%) HP:0011220
5 intrauterine growth retardation 31 occasional (7.5%) HP:0001511
6 low-set ears 31 occasional (7.5%) HP:0000369
7 micropenis 31 occasional (7.5%) HP:0000054
8 thin upper lip vermilion 31 occasional (7.5%) HP:0000219
9 long philtrum 31 occasional (7.5%) HP:0000343
10 deeply set eye 31 occasional (7.5%) HP:0000490
11 pachygyria 31 occasional (7.5%) HP:0001302
12 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
13 overlapping fingers 31 occasional (7.5%) HP:0010557
14 cerebellar vermis hypoplasia 31 occasional (7.5%) HP:0001320
15 brain atrophy 31 occasional (7.5%) HP:0012444
16 short chin 31 occasional (7.5%) HP:0000331
17 cns hypomyelination 31 occasional (7.5%) HP:0003429
18 simplified gyral pattern 31 occasional (7.5%) HP:0009879
19 seizure 31 occasional (7.5%) HP:0001250
20 microcephaly 31 HP:0000252
21 recurrent aphthous stomatitis 31 HP:0011107
22 severe combined immunodeficiency 31 HP:0004430
23 recurrent lower respiratory tract infections 31 HP:0002783

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Immunology:
severe combined immunodeficiency
normal nk cells
decreased circulating b cells
decreased circulation t cells
block of b-cell differentiation

Neurologic Central Nervous System:
pachygyria (1 patient)
seizures (1 patient)
thin corpus callosum (1 patient)
brain atrophy (1 patient)
simplified gyral pattern (1 patient)
more
Head And Neck Head:
microcephaly (1 patient)

Growth Other:
intrauterine growth retardation (1 patient)

Head And Neck Nose:
wide nasal bridge (1 patient)

Genitourinary External Genitalia Male:
micropenis (1 patient)

Skeletal Feet:
postaxial polysyndactyly (1 patient)

Head And Neck Mouth:
oral candidiasis
aphthous ulcers
thin upper lip (1 patient)

Head And Neck Ears:
sensorineural hearing loss (1 patient)
low-set ears (1 patient)

Head And Neck Face:
small chin (1 patient)
prominent forehead (1 patient)
long philtrum (1 patient)

Head And Neck Eyes:
deep-set eyes (1 patient)
visual impairment (1 patient)

Respiratory:
lower respiratory tract infections, recurrent

Skeletal Hands:
overlapping fingers (1 patient)

Clinical features from OMIM®:

615966 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency 26 with or Without Neurologic Abnormalities

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 26 with or Without Neurologic Abnormalities

Genetic Tests for Immunodeficiency 26 with or Without Neurologic Abnormalities

Genetic tests related to Immunodeficiency 26 with or Without Neurologic Abnormalities:

# Genetic test Affiliating Genes
1 Immunodeficiency 26 with or Without Neurologic Abnormalities 29 PRKDC

Anatomical Context for Immunodeficiency 26 with or Without Neurologic Abnormalities

MalaCards organs/tissues related to Immunodeficiency 26 with or Without Neurologic Abnormalities:

40
B Cells, Eye, Brain, Nk Cells, T Cells

Publications for Immunodeficiency 26 with or Without Neurologic Abnormalities

Articles related to Immunodeficiency 26 with or Without Neurologic Abnormalities:

# Title Authors PMID Year
1
PRKDC mutations in a SCID patient with profound neurological abnormalities. 6 57
23722905 2013
2
A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. 6 57
19075392 2009
3
Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice. 57
9122213 1997
4
Equine severe combined immunodeficiency: a defect in V(D)J recombination and DNA-dependent protein kinase activity. 57
8524788 1995
5
DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect. 57
7855601 1995

Variations for Immunodeficiency 26 with or Without Neurologic Abnormalities

ClinVar genetic disease variations for Immunodeficiency 26 with or Without Neurologic Abnormalities:

6 (show top 50) (show all 596)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRKDC NM_006904.6(PRKDC):c.9185T>G (p.Leu3062Arg) SNV Pathogenic 154322 rs587777685 GRCh37: 8:48733431-48733431
GRCh38: 8:47820870-47820870
2 PRKDC NM_006904.6(PRKDC):c.1777-723dup Duplication Pathogenic 154324 rs546905091 GRCh37: 8:48844056-48844057
GRCh38: 8:47931496-47931497
3 PRKDC NM_006904.6(PRKDC):c.10721C>T (p.Ala3574Val) SNV Pathogenic 154323 rs587777686 GRCh37: 8:48701749-48701749
GRCh38: 8:47789188-47789188
4 PRKDC NM_006904.6(PRKDC):c.4435G>C (p.Val1479Leu) SNV Conflicting interpretations of pathogenicity 379448 rs199731143 GRCh37: 8:48800245-48800245
GRCh38: 8:47887684-47887684
5 PRKDC NM_006904.6(PRKDC):c.5572-4G>A SNV Conflicting interpretations of pathogenicity 625998 rs367584015 GRCh37: 8:48776142-48776142
GRCh38: 8:47863581-47863581
6 PRKDC NM_006904.6(PRKDC):c.5120T>A (p.Leu1707Gln) SNV Conflicting interpretations of pathogenicity 429510 rs202110076 GRCh37: 8:48792167-48792167
GRCh38: 8:47879606-47879606
7 PRKDC NM_006904.6(PRKDC):c.422C>G (p.Ser141Cys) SNV Conflicting interpretations of pathogenicity 542024 rs201231274 GRCh37: 8:48866984-48866984
GRCh38: 8:47954424-47954424
8 PRKDC NM_006904.6(PRKDC):c.655G>C (p.Val219Leu) SNV Uncertain significance 642943 rs1247432451 GRCh37: 8:48866246-48866246
GRCh38: 8:47953686-47953686
9 PRKDC NM_006904.7(PRKDC):c.1187T>C (p.Phe396Ser) SNV Uncertain significance 1031105 GRCh37: 8:48849004-48849004
GRCh38: 8:47936444-47936444
10 PRKDC NM_006904.7(PRKDC):c.3364+4C>T SNV Uncertain significance 1031106 GRCh37: 8:48812929-48812929
GRCh38: 8:47900369-47900369
11 PRKDC NM_006904.7(PRKDC):c.4773A>G (p.Lys1591=) SNV Uncertain significance 1031107 GRCh37: 8:48798508-48798508
GRCh38: 8:47885947-47885947
12 PRKDC NM_006904.7(PRKDC):c.10778G>A (p.Arg3593Lys) SNV Uncertain significance 1032501 GRCh37: 8:48701591-48701591
GRCh38: 8:47789030-47789030
13 PRKDC NM_006904.7(PRKDC):c.7080T>C (p.Phe2360=) SNV Uncertain significance 1033163 GRCh37: 8:48761990-48761990
GRCh38: 8:47849429-47849429
14 PRKDC NM_006904.7(PRKDC):c.7371C>T (p.Pro2457=) SNV Uncertain significance 1033164 GRCh37: 8:48752660-48752660
GRCh38: 8:47840099-47840099
15 PRKDC NM_006904.7(PRKDC):c.8457G>C (p.Glu2819Asp) SNV Uncertain significance 1034476 GRCh37: 8:48740849-48740849
GRCh38: 8:47828288-47828288
16 PRKDC NM_006904.7(PRKDC):c.5363+5G>A SNV Uncertain significance 1034500 GRCh37: 8:48790280-48790280
GRCh38: 8:47877719-47877719
17 PRKDC NM_006904.7(PRKDC):c.4154A>G (p.Asn1385Ser) SNV Uncertain significance 1035097 GRCh37: 8:48801701-48801701
GRCh38: 8:47889140-47889140
18 PRKDC NM_006904.7(PRKDC):c.5956C>T (p.Arg1986Cys) SNV Uncertain significance 1036584 GRCh37: 8:48774652-48774652
GRCh38: 8:47862091-47862091
19 PRKDC NM_006904.7(PRKDC):c.8167A>C (p.Thr2723Pro) SNV Uncertain significance 1036698 GRCh37: 8:48744473-48744473
GRCh38: 8:47831912-47831912
20 PRKDC NM_006904.7(PRKDC):c.2081C>T (p.Ser694Phe) SNV Uncertain significance 1037305 GRCh37: 8:48841710-48841710
GRCh38: 8:47929150-47929150
21 PRKDC NM_006904.7(PRKDC):c.3632T>A (p.Val1211Asp) SNV Uncertain significance 1037855 GRCh37: 8:48805914-48805914
GRCh38: 8:47893354-47893354
22 PRKDC NM_006904.7(PRKDC):c.2100G>T (p.Lys700Asn) SNV Uncertain significance 1037937 GRCh37: 8:48841691-48841691
GRCh38: 8:47929131-47929131
23 PRKDC NM_006904.7(PRKDC):c.8986C>T (p.Leu2996Phe) SNV Uncertain significance 1040388 GRCh37: 8:48734290-48734290
GRCh38: 8:47821729-47821729
24 PRKDC NM_006904.7(PRKDC):c.6458C>T (p.Thr2153Ile) SNV Uncertain significance 1040726 GRCh37: 8:48771084-48771084
GRCh38: 8:47858523-47858523
25 PRKDC NC_000008.10:g.(?_48686714)_(48713567_?)dup Duplication Uncertain significance 1040781 GRCh37: 8:48686714-48713567
GRCh38:
26 PRKDC NM_006904.7(PRKDC):c.3257A>G (p.Tyr1086Cys) SNV Uncertain significance 1040859 GRCh37: 8:48815141-48815141
GRCh38: 8:47902581-47902581
27 PRKDC NM_006904.7(PRKDC):c.12301G>C (p.Glu4101Gln) SNV Uncertain significance 1041078 GRCh37: 8:48686820-48686820
GRCh38: 8:47774259-47774259
28 PRKDC NM_006904.7(PRKDC):c.2638A>G (p.Met880Val) SNV Uncertain significance 1041242 GRCh37: 8:48826604-48826604
GRCh38: 8:47914044-47914044
29 PRKDC NM_006904.7(PRKDC):c.4486G>A (p.Glu1496Lys) SNV Uncertain significance 1041490 GRCh37: 8:48800194-48800194
GRCh38: 8:47887633-47887633
30 PRKDC NM_006904.7(PRKDC):c.6553A>G (p.Met2185Val) SNV Uncertain significance 1041984 GRCh37: 8:48769773-48769773
GRCh38: 8:47857212-47857212
31 PRKDC NM_006904.7(PRKDC):c.2432A>G (p.Asn811Ser) SNV Uncertain significance 1042212 GRCh37: 8:48830931-48830931
GRCh38: 8:47918371-47918371
32 PRKDC NM_006904.7(PRKDC):c.4052C>T (p.Thr1351Ile) SNV Uncertain significance 1043243 GRCh37: 8:48802837-48802837
GRCh38: 8:47890276-47890276
33 PRKDC NM_006904.7(PRKDC):c.4703A>G (p.Asn1568Ser) SNV Uncertain significance 1043442 GRCh37: 8:48798578-48798578
GRCh38: 8:47886017-47886017
34 PRKDC NM_006904.7(PRKDC):c.2500C>A (p.Leu834Met) SNV Uncertain significance 1043937 GRCh37: 8:48830863-48830863
GRCh38: 8:47918303-47918303
35 PRKDC NM_006904.7(PRKDC):c.2620A>G (p.Thr874Ala) SNV Uncertain significance 1044152 GRCh37: 8:48826622-48826622
GRCh38: 8:47914062-47914062
36 PRKDC NM_006904.7(PRKDC):c.11954T>C (p.Val3985Ala) SNV Uncertain significance 1045075 GRCh37: 8:48690335-48690335
GRCh38: 8:47777774-47777774
37 PRKDC NM_006904.7(PRKDC):c.4996G>A (p.Gly1666Ser) SNV Uncertain significance 1045241 GRCh37: 8:48794048-48794048
GRCh38: 8:47881487-47881487
38 PRKDC NM_006904.7(PRKDC):c.8732G>A (p.Arg2911His) SNV Uncertain significance 1045434 GRCh37: 8:48739268-48739268
GRCh38: 8:47826707-47826707
39 PRKDC NM_006904.7(PRKDC):c.1113+10A>G SNV Uncertain significance 1045661 GRCh37: 8:48852101-48852101
GRCh38: 8:47939541-47939541
40 PRKDC NM_006904.7(PRKDC):c.5061T>G (p.His1687Gln) SNV Uncertain significance 1045715 GRCh37: 8:48793983-48793983
GRCh38: 8:47881422-47881422
41 PRKDC NM_006904.7(PRKDC):c.10864G>C (p.Ala3622Pro) SNV Uncertain significance 1045857 GRCh37: 8:48701505-48701505
GRCh38: 8:47788944-47788944
42 PRKDC NM_006904.7(PRKDC):c.1945T>C (p.Phe649Leu) SNV Uncertain significance 1045909 GRCh37: 8:48842520-48842520
GRCh38: 8:47929960-47929960
43 PRKDC NM_006904.7(PRKDC):c.9226G>A (p.Ala3076Thr) SNV Uncertain significance 1046351 GRCh37: 8:48733390-48733390
GRCh38: 8:47820829-47820829
44 PRKDC NM_006904.7(PRKDC):c.593G>A (p.Arg198His) SNV Uncertain significance 1046545 GRCh37: 8:48866395-48866395
GRCh38: 8:47953835-47953835
45 PRKDC NM_006904.7(PRKDC):c.1760C>G (p.Thr587Ser) SNV Uncertain significance 1047315 GRCh37: 8:48845596-48845596
GRCh38: 8:47933036-47933036
46 PRKDC NM_006904.7(PRKDC):c.835G>A (p.Ala279Thr) SNV Uncertain significance 1047418 GRCh37: 8:48855900-48855900
GRCh38: 8:47943340-47943340
47 PRKDC NM_006904.7(PRKDC):c.4310A>G (p.Tyr1437Cys) SNV Uncertain significance 1047520 GRCh37: 8:48801182-48801182
GRCh38: 8:47888621-47888621
48 PRKDC NM_006904.6(PRKDC):c.6268C>T (p.Arg2090Trp) SNV Uncertain significance 541985 rs375294044 GRCh37: 8:48771487-48771487
GRCh38: 8:47858926-47858926
49 PRKDC NM_006904.6(PRKDC):c.11713G>T (p.Ala3905Ser) SNV Uncertain significance 424238 rs762000221 GRCh37: 8:48691160-48691160
GRCh38: 8:47778599-47778599
50 PRKDC NM_006904.6(PRKDC):c.4630G>A (p.Gly1544Ser) SNV Uncertain significance 541991 rs746489977 GRCh37: 8:48798651-48798651
GRCh38: 8:47886090-47886090

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 26 with or Without Neurologic Abnormalities:

72
# Symbol AA change Variation ID SNP ID
1 PRKDC p.Leu3062Arg VAR_072569 rs587777685
2 PRKDC p.Ala3574Val VAR_072570 rs587777686

Expression for Immunodeficiency 26 with or Without Neurologic Abnormalities

Search GEO for disease gene expression data for Immunodeficiency 26 with or Without Neurologic Abnormalities.

Pathways for Immunodeficiency 26 with or Without Neurologic Abnormalities

GO Terms for Immunodeficiency 26 with or Without Neurologic Abnormalities

Sources for Immunodeficiency 26 with or Without Neurologic Abnormalities

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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