Immunodeficiency 38 With Basal Ganglia Calcification; Imd38

Description

IMD38 predisposes individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines (Bogunovic et al., 2012). Patients do not experience severe disease in response to viral infection. Affected individuals have intracranial calcification (Zhang et al., 2015).

Clinical Features

Phenotypes and symptoms related to Immunodeficiency 38 With Basal Ganglia Calcification; Imd38

  • Seizures
  • Immunodeficiency
  • Lymphadenopathy
  • Basal ganglia calcification
  • Recurrent mycobacterial infections
  • Lymphadenitis

Incidence and onset information

Not enough data available about incidence and published cases.


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Immunodeficiency 38 With Basal Ganglia Calcification; Imd38 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ISG15 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ISG15
Specificity
100 %
Genes
100 %
ISG15.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ISG15
Specificity
100 %
Genes
100 %
Immunodeficiency type 38.

By Centogene AG - the Rare Disease Company in Germany.

ISG15
Specificity
100 %
Genes
100 %
Defects of phagocytosis Panel.

By CeGaT GmbH in Germany.

HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Invitae Mendelian Susceptibility to Mycobacterial Disease Panel.

By Invitae in United States.

STAT1, GATA2, CYBB, SAMHD1, ADAR, MYD88, IFNGR1, IFNGR2, IRAK4, IL12RB1, TYK2, IL12B, ISG15, ACP5, STAT2, IRF8
Specificity
7 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
ISG15.

By Fulgent Genetics Fulgent Genetics in United States.

ISG15
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics in Finland.

SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, NLRP3, MVK, PSMB8, IFIH1, ADAR, MEFV, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, NLRC4, ISG15, PSTPIP1, NLRP12 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %

Alternate names

Immunodeficiency 38 With Basal Ganglia Calcification; Imd38 Is also known as immunodeficiency 38, mycobacteriosis, autosomal recessive, isg15 deficiency, autosomal recessive;msmd due to complete isg15 deficiency.



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