Deficiency In Anterior Pituitary Function-variable Immunodeficiency Syndrome
Description
Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.
Genes related to Deficiency In Anterior Pituitary Function-variable Immunodeficiency Syndrome
- NFKB2
Clinical Features
Top most frequent phenotypes and symptoms related to Deficiency In Anterior Pituitary Function-variable Immunodeficiency Syndrome
- Global developmental delay
- Failure to thrive
- Fatigue
- Alopecia
- Nail dystrophy
- Sepsis
- Decreased antibody level in blood
- Growth hormone deficiency
- Hypotension
- Recurrent otitis media
And another 28 symptoms. If you need more information about this disease we can help you.
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
Deficiency In Anterior Pituitary Function-variable Immunodeficiency Syndrome Is also known as david syndrome.
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.Deficiency In Anterior Pituitary Function-variable Immunodeficiency Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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NFKB2 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
NFKB2
Specificity
100 %
Genes
100 % |
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication.
By ARUP Laboratories, Molecular Genetics and Genomics (United States).
SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM , (...)
View the complete list with 15 more genes
Specificity
3 %
Genes
100 % |
Humoral dysfunction Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
Humoral dysfunction Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
Humoral dysfunction Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
Immunodeficiency, common variable (sequence analysis of NFKB2 gene).
By CGC Genetics (Portugal).
NFKB2
Specificity
100 %
Genes
100 % |
Immunodeficiency, common variable (sequence analysis of NFKB2 gene).
By CGC Genetics (Portugal).
NFKB2
Specificity
100 %
Genes
100 % |
Hereditary kidney disorders - different panels.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)
View the complete list with 386 more genes
Specificity
1 %
Genes
100 % |
You can get up to 11 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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