Immunodeficiency 34; Imd34

Description

IMD34 results in predisposition to infections by poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and nontuberculous environmental bacteria. Affected individuals are also susceptible to the more virulent species Mycobacterium tuberculosis (Bustamante et al., 2007).

Clinical Features

Phenotypes and symptoms related to Immunodeficiency 34; Imd34

  • Recurrent infections
  • Recurrent mycobacterial infections
  • Severe recurrent varicella

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

Immunodeficiency 34; Imd34 Is also known as atypical mycobacteriosis, familial, x-linked 2, amcbx2, immunodeficiency 34, mycobacteriosis, x-linked.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Immunodeficiency 34; Imd34 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
Chronic Granulomatous Disease - CYBB Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

CYBB
Specificity
100 %
Genes
100 %
Chronic Granulomatous Disease (CGD): CYBB (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CYBB
Specificity
100 %
Genes
100 %
Chronic Granulomatous Disease (CGD): CYBB (Known Mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CYBB
Specificity
100 %
Genes
100 %
CYBB Sequencing.

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

CYBB
Specificity
100 %
Genes
100 %
Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion).

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

CYBB, NCF1
Specificity
50 %
Genes
100 %
Chronic Granulomatous Disease, X-Linked (CYBB) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

CYBB
Specificity
100 %
Genes
100 %
CYBB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CYBB
Specificity
100 %
Genes
100 %

We have 31 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THAUVIN-ROBINET-FAIVRE SYNDROME; TROFAS RUSSELL-SILVER SYNDROME, X-LINKED OSTEOPOROSIS, JUVENILE LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6; FPLD6 VAN MALDERGEM SYNDROME 1; VMLDS1 ACROCAPITOFEMORAL DYSPLASIA; ACFD

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more