Immunodeficiency 32a; Imd32a

Description

Autosomal dominant IRF8 deficiency, or IMD32A, causes an abnormal peripheral blood myeloid phenotype with a marked loss of CD11C (ITGAX )-positive/CD1C (OMIM ) dendritic cells, resulting in selective susceptibility to mycobacterial infections (Hambleton et al., 2011).

Clinical Features

Phenotypes and symptoms related to Immunodeficiency 32a; Imd32a

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Lymphadenopathy
  • Abnormality of immune system physiology

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Immunodeficiency 32a; Imd32a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Immunodeficiency type 32A, mycobacteriosis, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

IRF8
Specificity
100 %
Genes
100 %
Immunodeficiency type 32B, monocyte and dendritic cell deficiency, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

IRF8
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
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 %
IRF8.

By Fulgent Genetics Fulgent Genetics in United States.

IRF8
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 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Focus::Lymphoma™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %

Alternate names

Immunodeficiency 32a; Imd32a Is also known as immunodeficiency 32a, mycobacteriosis, autosomal dominant, irf8 deficiency, autosomal dominant, cd11c-positive/cd1c-positive dendritic cell deficiency, autosomal dominant;msmd due to partial irf8 deficiency; msmd due to partial interferon regulatory factor 8 deficiency; mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency.



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