MCID: SVR032
MIFTS: 26

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation

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

Aliases & Classifications for Severe Combined Immunodeficiency with Microcephaly, Growth...

MalaCards integrated aliases for Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

Name: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 57 37 29 13 6 40 73
Nhej1 Syndrome 57 75
Autosomal Recessive T-Cell-Negative, B Cell-Negative, Nk Cell-Positive, Severe Combined Immunodeficiency with Microcephaly, Growth Retardation and Sensitivity to Ionizing Radiation 75
Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 57
Combined Immunodeficiency-Microcephaly-Growth Retardation-Sensitivity to Ionizing Radiation Syndrome 59
Severe Combined Immunodeficiency Due to Nhej1 Deficiency 75
Cernunnos-Xlf Deficiency 59
Cernunnos Deficiency 59
Nhej1 Deficiency 59
Cernunnos Xlfd 59
Nhej1-Scid 75

Characteristics:

Orphanet epidemiological data:

59
cernunnos-xlf deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 59  
Rare immunological diseases


Summaries for Severe Combined Immunodeficiency with Microcephaly, Growth...

UniProtKB/Swiss-Prot : 75 Severe combined immunodeficiency due to NHEJ1 deficiency: SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. NHEJ1-SCID is characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation without microcephaly and mild growth retardation, probably due to hypomorphic NHEJ1 mutations.

MalaCards based summary : Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation, also known as nhej1 syndrome, is related to nijmegen breakage syndrome and hematopoietic stem cell transplantation. An important gene associated with Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation is NHEJ1 (Non-Homologous End Joining Factor 1), and among its related pathways/superpathways is Non-homologous end-joining. Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are microcephaly and immunodeficiency

Wikipedia : 76 Cernunnos deficiency is a form of combined immunodeficiency characterized by microcephaly, due to... more...

Description from OMIM: 611291

Related Diseases for Severe Combined Immunodeficiency with Microcephaly, Growth...

Diseases related to Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome 11.0
2 hematopoietic stem cell transplantation 10.4

Symptoms & Phenotypes for Severe Combined Immunodeficiency with Microcephaly, Growth...

Clinical features from OMIM:

611291

Human phenotypes related to Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 immunodeficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002721
3 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
4 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
5 autoimmunity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002960
6 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
7 decreased antibody level in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0004313
8 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
9 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
10 sloping forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000340
11 bird-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000320
12 recurrent bacterial infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002718
13 recurrent viral infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0004429
14 decrease in t cell count 59 32 hallmark (90%) Very frequent (99-80%) HP:0005403
15 b lymphocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010976
16 lymphopenia 59 Very frequent (99-80%)

Drugs & Therapeutics for Severe Combined Immunodeficiency with Microcephaly, Growth...

Search Clinical Trials , NIH Clinical Center for Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation

Genetic Tests for Severe Combined Immunodeficiency with Microcephaly, Growth...

Genetic tests related to Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 29 NHEJ1

Anatomical Context for Severe Combined Immunodeficiency with Microcephaly, Growth...

MalaCards organs/tissues related to Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

41
T Cells, B Cells, Nk Cells

Publications for Severe Combined Immunodeficiency with Microcephaly, Growth...

Articles related to Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

# Title Authors Year
1
Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency. ( 24511403 )
2014
2
Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation. ( 21535335 )
2012
3
Unrelated hematopoietic stem cell transplantation for Cernunnos-XLF deficiency. ( 19067926 )
2009

Variations for Severe Combined Immunodeficiency with Microcephaly, Growth...

UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

75
# Symbol AA change Variation ID SNP ID
1 NHEJ1 p.Arg57Gly VAR_025704 rs118204451
2 NHEJ1 p.Cys123Arg VAR_025705 rs118204452

ClinVar genetic disease variations for Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 NHEJ1 NM_024782.2(NHEJ1): c.169C> G (p.Arg57Gly) single nucleotide variant Pathogenic rs118204451 GRCh37 Chromosome 2, 220022916: 220022916
2 NHEJ1 NM_024782.2(NHEJ1): c.169C> G (p.Arg57Gly) single nucleotide variant Pathogenic rs118204451 GRCh38 Chromosome 2, 219158194: 219158194
3 NHEJ1 NM_024782.2(NHEJ1): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic rs118204452 GRCh37 Chromosome 2, 220022217: 220022217
4 NHEJ1 NM_024782.2(NHEJ1): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic rs118204452 GRCh38 Chromosome 2, 219157495: 219157495
5 NHEJ1 NM_024782.2(NHEJ1): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs118204453 GRCh37 Chromosome 2, 220011458: 220011458
6 NHEJ1 NM_024782.2(NHEJ1): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs118204453 GRCh38 Chromosome 2, 219146736: 219146736
7 NHEJ1 NM_024782.2(NHEJ1): c.177+1_177+3delinsTT indel Pathogenic rs886037606 GRCh38 Chromosome 2, 219158183: 219158185
8 NHEJ1 NM_024782.2(NHEJ1): c.177+1_177+3delinsTT indel Pathogenic rs886037606 GRCh37 Chromosome 2, 220022905: 220022907
9 NHEJ1 NM_024782.2(NHEJ1): c.258C> T (p.Asp86=) single nucleotide variant Conflicting interpretations of pathogenicity rs113689741 GRCh38 Chromosome 2, 219157604: 219157604
10 NHEJ1 NM_024782.2(NHEJ1): c.258C> T (p.Asp86=) single nucleotide variant Conflicting interpretations of pathogenicity rs113689741 GRCh37 Chromosome 2, 220022326: 220022326
11 NHEJ1 NM_024782.2(NHEJ1): c.767A> T (p.Gln256Leu) single nucleotide variant Benign rs35270667 GRCh37 Chromosome 2, 219942026: 219942026
12 NHEJ1 NM_024782.2(NHEJ1): c.767A> T (p.Gln256Leu) single nucleotide variant Benign rs35270667 GRCh38 Chromosome 2, 219077304: 219077304
13 NHEJ1 NM_024782.2(NHEJ1): c.707-7A> T single nucleotide variant Benign/Likely benign rs150521220 GRCh37 Chromosome 2, 219942093: 219942093
14 NHEJ1 NM_024782.2(NHEJ1): c.707-7A> T single nucleotide variant Benign/Likely benign rs150521220 GRCh38 Chromosome 2, 219077371: 219077371
15 NHEJ1 NM_024782.2(NHEJ1): c.451A> C (p.Arg151=) single nucleotide variant Benign rs141996352 GRCh38 Chromosome 2, 219147735: 219147735
16 NHEJ1 NM_024782.2(NHEJ1): c.451A> C (p.Arg151=) single nucleotide variant Benign rs141996352 GRCh37 Chromosome 2, 220012457: 220012457
17 NHEJ1 NM_024782.2(NHEJ1): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 219078152: 219078152
18 NHEJ1 NM_024782.2(NHEJ1): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 219942874: 219942874
19 NHEJ1 NM_024782.2(NHEJ1): c.700G> A (p.Gly234Ser) single nucleotide variant Uncertain significance rs191958428 GRCh38 Chromosome 2, 219078095: 219078095
20 NHEJ1 NM_024782.2(NHEJ1): c.700G> A (p.Gly234Ser) single nucleotide variant Uncertain significance rs191958428 GRCh37 Chromosome 2, 219942817: 219942817

Expression for Severe Combined Immunodeficiency with Microcephaly, Growth...

Search GEO for disease gene expression data for Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation.

Pathways for Severe Combined Immunodeficiency with Microcephaly, Growth...

Pathways related to Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation according to KEGG:

37
# Name Kegg Source Accession
1 Non-homologous end-joining hsa03450

GO Terms for Severe Combined Immunodeficiency with Microcephaly, Growth...

Sources for Severe Combined Immunodeficiency with Microcephaly, Growth...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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