Immunodeficiency 44; Imd44

Description

Immunodeficiency-44 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency 44; Imd44

  • Seizures
  • Spasticity
  • Visual impairment
  • Fever
  • Immunodeficiency
  • Encephalopathy
  • Myoclonus
  • Acidosis
  • Metabolic acidosis
  • Chorea

And another 6 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.

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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Immunodeficiency 44; Imd44 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Invitae Mendelian Susceptibility to Mycobacterial Disease Panel.

By Invitae (United States).

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

By Invitae (United States).

RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
STAT2.

By Fulgent Genetics Fulgent Genetics (United States).

STAT2
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, BLM, SH2D1A, SMARCAL1, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, TAPBP, TBX1, TFRC, TNFRSF4, CD40, CD27, CD40LG, TYK2, WAS, FOXN1 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTOPENIA 2; THC2 MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5 GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL; GHDP ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3 CENTRIPETALIS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C

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