MCID: IMM185
MIFTS: 30

Immunodeficiency 26 with or Without Neurologic Abnormalities

Categories: Genetic diseases, Blood diseases, Rare diseases, Neuronal diseases, Immune 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 75 29 6 73
Imd26 57 75
Immunodeficiency, Type 26, with or Without Neurologic Abnormalities 40
Immunodeficiency 26, with or Without Neurologic Abnormalities 57
Severe Combined Immunodeficiency Due to Dna-Pkcs Deficiency 59
Immunodeficiency 26 Without Neurologic Abnormalities 6
Scid Due to Dna-Pkcs Deficiency 59

Characteristics:

OMIM:

57
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:

32
immunodeficiency 26 with or without neurologic abnormalities:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


Summaries for Immunodeficiency 26 with or Without Neurologic Abnormalities

UniProtKB/Swiss-Prot : 75 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, is also known as imd26. An important gene associated with Immunodeficiency 26 with or Without Neurologic Abnormalities is PRKDC (Protein Kinase, DNA-Activated, Catalytic Polypeptide), and among its related pathways/superpathways are DNA Damage and Cell cycle. Affiliated tissues include b cells, eye and brain, and related phenotypes are micropenis and thin upper lip vermilion

Description from OMIM: 615966

Related Diseases for Immunodeficiency 26 with or Without Neurologic Abnormalities

Symptoms & Phenotypes for Immunodeficiency 26 with or Without Neurologic Abnormalities

Symptoms via clinical synopsis from OMIM:

57
Immunology:
severe combined immunodeficiency
decreased circulating b cells
normal nk 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

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

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 micropenis 32 occasional (7.5%) HP:0000054
2 thin upper lip vermilion 32 occasional (7.5%) HP:0000219
3 microcephaly 32 HP:0000252
4 short chin 32 occasional (7.5%) HP:0000331
5 long philtrum 32 occasional (7.5%) HP:0000343
6 low-set ears 32 occasional (7.5%) HP:0000369
7 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
8 wide nasal bridge 32 occasional (7.5%) HP:0000431
9 deeply set eye 32 occasional (7.5%) HP:0000490
10 visual impairment 32 occasional (7.5%) HP:0000505
11 seizures 32 occasional (7.5%) HP:0001250
12 pachygyria 32 occasional (7.5%) HP:0001302
13 cerebellar vermis hypoplasia 32 occasional (7.5%) HP:0001320
14 intrauterine growth retardation 32 occasional (7.5%) HP:0001511
15 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
16 recurrent lower respiratory tract infections 32 HP:0002783
17 cns hypomyelination 32 occasional (7.5%) HP:0003429
18 severe combined immunodeficiency 32 HP:0004430
19 cortical gyral simplification 32 occasional (7.5%) HP:0009879
20 overlapping fingers 32 occasional (7.5%) HP:0010557
21 recurrent aphthous stomatitis 32 HP:0011107
22 prominent forehead 32 occasional (7.5%) HP:0011220
23 brain atrophy 32 occasional (7.5%) HP:0012444

GenomeRNAi Phenotypes related to Immunodeficiency 26 with or Without Neurologic Abnormalities according to GeneCards Suite gene sharing:

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.7 PRKDC
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.7 PRKDC
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.7 MCM4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.7 MCM4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.7 MCM4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.7 PRKDC
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.7 MCM4 PRKDC
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.7 MCM4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.7 MCM4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.7 MCM4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 PRKDC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.6 MCM4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.6 MCM4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.6 MCM4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.6 MCM4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.6 MCM4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.6 MCM4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.6 MCM4
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 PRKDC
20 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.6 PRKDC
21 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.6 MCM4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.6 MCM4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.6 PRKDC MCM4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.6 MCM4
25 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.6 PRKDC
26 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.6 MCM4
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.6 PRKDC
28 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.6 MCM4

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:

41
B Cells, Eye, Brain, Nk Cells, T Cells

Publications for Immunodeficiency 26 with or Without Neurologic Abnormalities

Variations for Immunodeficiency 26 with or Without Neurologic Abnormalities

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

75
# Symbol AA change Variation ID SNP ID
1 PRKDC p.Leu3062Arg VAR_072569 rs587777685
2 PRKDC p.Ala3574Val VAR_072570 rs587777686

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

6
(show top 50) (show all 218)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKDC NM_006904.6(PRKDC): c.9185T> G (p.Leu3062Arg) single nucleotide variant Pathogenic rs587777685 GRCh37 Chromosome 8, 48733431: 48733431
2 PRKDC NM_006904.6(PRKDC): c.9185T> G (p.Leu3062Arg) single nucleotide variant Pathogenic rs587777685 GRCh38 Chromosome 8, 47820870: 47820870
3 PRKDC NM_006904.6(PRKDC): c.10721C> T (p.Ala3574Val) single nucleotide variant Pathogenic rs587777686 GRCh37 Chromosome 8, 48701749: 48701749
4 PRKDC NM_006904.6(PRKDC): c.10721C> T (p.Ala3574Val) single nucleotide variant Pathogenic rs587777686 GRCh38 Chromosome 8, 47789188: 47789188
5 PRKDC NM_006904.6(PRKDC): c.1776+1523dupA duplication Pathogenic rs587777687 GRCh37 Chromosome 8, 48844057: 48844057
6 PRKDC NM_006904.6(PRKDC): c.1776+1523dupA duplication Pathogenic rs587777687 GRCh38 Chromosome 8, 47931497: 47931497
7 PRKDC NM_006904.6(PRKDC): c.10376A> G (p.Asn3459Ser) single nucleotide variant Benign/Likely benign rs8178228 GRCh37 Chromosome 8, 48710880: 48710880
8 PRKDC NM_006904.6(PRKDC): c.10376A> G (p.Asn3459Ser) single nucleotide variant Benign/Likely benign rs8178228 GRCh38 Chromosome 8, 47798319: 47798319
9 PRKDC NM_006904.6(PRKDC): c.2040A> G (p.Ile680Met) single nucleotide variant Benign rs8178040 GRCh37 Chromosome 8, 48842425: 48842425
10 PRKDC NM_006904.6(PRKDC): c.2040A> G (p.Ile680Met) single nucleotide variant Benign rs8178040 GRCh38 Chromosome 8, 47929865: 47929865
11 PRKDC NM_006904.6(PRKDC): c.8695C> T (p.Arg2899Cys) single nucleotide variant Benign rs4278157 GRCh37 Chromosome 8, 48739305: 48739305
12 PRKDC NM_006904.6(PRKDC): c.8695C> T (p.Arg2899Cys) single nucleotide variant Benign rs4278157 GRCh38 Chromosome 8, 47826744: 47826744
13 PRKDC NM_006904.6(PRKDC): c.5088T> G (p.Leu1696=) single nucleotide variant Benign rs6992074 GRCh37 Chromosome 8, 48792199: 48792199
14 PRKDC NM_006904.6(PRKDC): c.5088T> G (p.Leu1696=) single nucleotide variant Benign rs6992074 GRCh38 Chromosome 8, 47879638: 47879638
15 PRKDC NM_006904.6(PRKDC): c.4809G> T (p.Gln1603His) single nucleotide variant Benign rs8178106 GRCh37 Chromosome 8, 48794626: 48794626
16 PRKDC NM_006904.6(PRKDC): c.4809G> T (p.Gln1603His) single nucleotide variant Benign rs8178106 GRCh38 Chromosome 8, 47882065: 47882065
17 PRKDC NM_006904.6(PRKDC): c.2934+5G> C single nucleotide variant Benign rs8178060 GRCh37 Chromosome 8, 48824965: 48824965
18 PRKDC NM_006904.6(PRKDC): c.2934+5G> C single nucleotide variant Benign rs8178060 GRCh38 Chromosome 8, 47912405: 47912405
19 PRKDC NM_006904.6(PRKDC): c.2083C> T (p.Pro695Ser) single nucleotide variant Benign rs8178046 GRCh37 Chromosome 8, 48841708: 48841708
20 PRKDC NM_006904.6(PRKDC): c.2083C> T (p.Pro695Ser) single nucleotide variant Benign rs8178046 GRCh38 Chromosome 8, 47929148: 47929148
21 PRKDC NM_006904.6(PRKDC): c.999G> A (p.Met333Ile) single nucleotide variant Benign rs8178017 GRCh37 Chromosome 8, 48852225: 48852225
22 PRKDC NM_006904.6(PRKDC): c.999G> A (p.Met333Ile) single nucleotide variant Benign rs8178017 GRCh38 Chromosome 8, 47939665: 47939665
23 PRKDC NM_006904.6(PRKDC): c.10626C> T (p.Phe3542=) single nucleotide variant Benign/Likely benign rs8178231 GRCh37 Chromosome 8, 48706895: 48706895
24 PRKDC NM_006904.6(PRKDC): c.10626C> T (p.Phe3542=) single nucleotide variant Benign/Likely benign rs8178231 GRCh38 Chromosome 8, 47794334: 47794334
25 PRKDC NM_006904.6(PRKDC): c.10211G> A (p.Gly3404Glu) single nucleotide variant Benign/Likely benign rs8178225 GRCh37 Chromosome 8, 48711857: 48711857
26 PRKDC NM_006904.6(PRKDC): c.10211G> A (p.Gly3404Glu) single nucleotide variant Benign/Likely benign rs8178225 GRCh38 Chromosome 8, 47799296: 47799296
27 PRKDC NM_006904.6(PRKDC): c.9601C> T (p.Pro3201Ser) single nucleotide variant Benign/Likely benign rs8178216 GRCh37 Chromosome 8, 48719844: 48719844
28 PRKDC NM_006904.6(PRKDC): c.9601C> T (p.Pro3201Ser) single nucleotide variant Benign/Likely benign rs8178216 GRCh38 Chromosome 8, 47807283: 47807283
29 PRKDC NM_006904.6(PRKDC): c.6480C> T (p.Tyr2160=) single nucleotide variant Benign/Likely benign rs55991828 GRCh37 Chromosome 8, 48769846: 48769846
30 PRKDC NM_006904.6(PRKDC): c.6480C> T (p.Tyr2160=) single nucleotide variant Benign/Likely benign rs55991828 GRCh38 Chromosome 8, 47857285: 47857285
31 PRKDC NM_006904.6(PRKDC): c.3212A> G (p.Asn1071Ser) single nucleotide variant Benign rs8178070 GRCh37 Chromosome 8, 48815186: 48815186
32 PRKDC NM_006904.6(PRKDC): c.3212A> G (p.Asn1071Ser) single nucleotide variant Benign rs8178070 GRCh38 Chromosome 8, 47902626: 47902626
33 PRKDC NM_006904.6(PRKDC): c.16G> T (p.Ala6Ser) single nucleotide variant Benign rs8177999 GRCh37 Chromosome 8, 48872671: 48872671
34 PRKDC NM_006904.6(PRKDC): c.16G> T (p.Ala6Ser) single nucleotide variant Benign rs8177999 GRCh38 Chromosome 8, 47960111: 47960111
35 PRKDC NM_006904.6(PRKDC): c.11805C> T (p.Gly3935=) single nucleotide variant Benign/Likely benign rs8178249 GRCh38 Chromosome 8, 47778507: 47778507
36 PRKDC NM_006904.6(PRKDC): c.11805C> T (p.Gly3935=) single nucleotide variant Benign/Likely benign rs8178249 GRCh37 Chromosome 8, 48691068: 48691068
37 PRKDC NM_006904.6(PRKDC): c.9145C> T (p.Leu3049=) single nucleotide variant Benign/Likely benign rs56053523 GRCh37 Chromosome 8, 48733471: 48733471
38 PRKDC NM_006904.6(PRKDC): c.9145C> T (p.Leu3049=) single nucleotide variant Benign/Likely benign rs56053523 GRCh38 Chromosome 8, 47820910: 47820910
39 PRKDC NM_006904.6(PRKDC): c.4435G> C (p.Val1479Leu) single nucleotide variant Likely benign rs199731143 GRCh37 Chromosome 8, 48800245: 48800245
40 PRKDC NM_006904.6(PRKDC): c.4435G> C (p.Val1479Leu) single nucleotide variant Likely benign rs199731143 GRCh38 Chromosome 8, 47887684: 47887684
41 PRKDC NM_006904.6(PRKDC): c.3759G> A (p.Thr1253=) single nucleotide variant Benign/Likely benign rs8178087 GRCh37 Chromosome 8, 48805787: 48805787
42 PRKDC NM_006904.6(PRKDC): c.3759G> A (p.Thr1253=) single nucleotide variant Benign/Likely benign rs8178087 GRCh38 Chromosome 8, 47893227: 47893227
43 PRKDC NM_006904.6(PRKDC): c.3709G> A (p.Ala1237Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs191531119 GRCh37 Chromosome 8, 48805837: 48805837
44 PRKDC NM_006904.6(PRKDC): c.3709G> A (p.Ala1237Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs191531119 GRCh38 Chromosome 8, 47893277: 47893277
45 PRKDC NM_006904.6(PRKDC): c.11713G> T (p.Ala3905Ser) single nucleotide variant Uncertain significance rs762000221 GRCh37 Chromosome 8, 48691160: 48691160
46 PRKDC NM_006904.6(PRKDC): c.11713G> T (p.Ala3905Ser) single nucleotide variant Uncertain significance rs762000221 GRCh38 Chromosome 8, 47778599: 47778599
47 PRKDC NM_006904.6(PRKDC): c.5120T> A (p.Leu1707Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs202110076 GRCh37 Chromosome 8, 48792167: 48792167
48 PRKDC NM_006904.6(PRKDC): c.5120T> A (p.Leu1707Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs202110076 GRCh38 Chromosome 8, 47879606: 47879606
49 PRKDC NM_006904.6(PRKDC): c.6067T> C (p.Ser2023Pro) single nucleotide variant Benign rs56042895 GRCh37 Chromosome 8, 48772312: 48772312
50 PRKDC NM_006904.6(PRKDC): c.6067T> C (p.Ser2023Pro) single nucleotide variant Benign rs56042895 GRCh38 Chromosome 8, 47859751: 47859751

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

Pathways related to Immunodeficiency 26 with or Without Neurologic Abnormalities according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.63 MCM4 PRKDC
2 11.32 MCM4 PRKDC
3 10.57 MCM4 PRKDC

GO Terms for Immunodeficiency 26 with or Without Neurologic Abnormalities

Cellular components related to Immunodeficiency 26 with or Without Neurologic Abnormalities according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 8.62 MCM4 PRKDC

Sources for Immunodeficiency 26 with or Without Neurologic Abnormalities

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