Primary Immunodeficiency With Natural-killer Cell Deficiency And Adrenal Insufficiency

Description

The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.

Clinical Features

Top most frequent phenotypes and symptoms related to Primary Immunodeficiency With Natural-killer Cell Deficiency And Adrenal Insufficiency

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Intrauterine growth retardation
  • Splenomegaly

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Primary Immunodeficiency With Natural-killer Cell Deficiency And Adrenal Insufficiency Is also known as natural killer cell deficiency, familial isolated, natural killer cell and glucocorticoid deficiency with dna repair defect, nkgcd, primary immunodeficiency due to mcm4 deficiency, nkcd.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Primary Immunodeficiency With Natural-killer Cell Deficiency And Adrenal Insufficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Natural killer cell and glucocorticoid deficiency with DNA repair defect (sequence analysis of MCM4 gene).

By CGC Genetics (Portugal).

MCM4
Specificity
100 %
Genes
100 %
Immunodeficiency with natural killer cell deficiency.

By Centogene AG - the Rare Disease Company (Germany).

MCM4
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH (Germany).

RMRP, RUNX2, BLM, SMARCAL1, STAT3, TBX1, TERC, TERT, TINF2, TREX1, TYK2, WAS, NHP2, SPINK5, SAMHD1, NLRP3, RNASEH2A, DOCK8, ZBTB24, ADAR , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Defects in innate immunity Panel.

By CeGaT GmbH (Germany).

STAT1, TBK1, TLR3, TRAF3, TRAF3IP2, UNC93B1, CARD9, IL17F, TIRAP, IRAK4, TMC6, TICAM1, TMC8, CXCR4, IL17RA, APOL1, MCM4, MYD88, NFKBIA
Specificity
6 %
Genes
100 %
MCM4.

By Fulgent Genetics Fulgent Genetics (United States).

MCM4
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

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