Combined Immunodeficiency Due To Moesin Deficiency

Description

IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016).

Clinical Features

Phenotypes and symptoms related to Combined Immunodeficiency Due To Moesin Deficiency

  • Immunodeficiency
  • Recurrent respiratory infections
  • Neutropenia
  • Decreased antibody level in blood
  • Eczema
  • Recurrent urinary tract infections
  • Lymphopenia

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

Combined Immunodeficiency Due To Moesin Deficiency Is also known as cid due to moesin deficiency, msn-related combined immunodeficiency, immunodeficiency 50, x-linked recessive, x-linked moesin-associated immunodeficiency.

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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Combined Immunodeficiency Due To Moesin Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MSN.

By Fulgent Genetics Fulgent Genetics (United States).

MSN
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 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences (United States).

BCL6, BCL7A, BCL9, BCR, ROS1, RPL10, RPL22, RPL5, RPN1, RUNX1, BLM, SDC4, SDHB, SDHC, SDHD, BMPR1A, SET, SF3B1, SFPQ, SRSF2 , (...)

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Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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