MCID: CMB056
MIFTS: 12

Combined Immunodeficiency with Skin Granulomas

Categories: Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Combined Immunodeficiency with Skin Granulomas

MalaCards integrated aliases for Combined Immunodeficiency with Skin Granulomas:

Name: Combined Immunodeficiency with Skin Granulomas 53 6
Combined Cellular and Humoral Immune Defects with Granulomas 53
Combined Immunodeficiency Due to Rag 1/2 Deficiency 53
Combined Immunodeficiency with Granulomatosis 53
Cid Due to Rag 1/2 Deficiency 53

Classifications:



Summaries for Combined Immunodeficiency with Skin Granulomas

NIH Rare Diseases : 53 Combined immunodeficiency with skin granulomas is characterized by recurrent viral infections and the presence of granulomas in the skin, mucous membranes and/or internal organs. There is a gradual reduction in the number and function of B cells (a type of white blood cell that makes antibodies), and T lymphocytes (a type of white blood cell, that protect the body from infection attacking the infected cells directly), hypogammaglobulinemia (reduction in all types of gamma globulins, including antibodies that help fight infection.) and defective autoinmunity where the immune system attacks the body itself. Some people may develop associated auto-immune diseases such as myasthenia gravis, vitiligo, low blood red and white cells, psoriasis, and Guillain-Barre syndrome. It is caused by mutations in the RAG1 and/or RAG2 genes. These genes provide instructions for making a member of a group of proteins called the RAG complex, which is involved in the process, known as V(D)J recombination, needed for maintaining the diversity of the B and T cells so they can be able to recognize diverse foreign agents allowing the body to fight infections. The mutations can impair RAG complex formation and function, resulting in an impaired B and T cells' function. Depending on the residual activity of the RAG proteins the disease can be more or less severe. In less severe cases symptoms are milder and may appear later in life. Treatment is with bone marrow transplantation.

MalaCards based summary : Combined Immunodeficiency with Skin Granulomas, also known as combined cellular and humoral immune defects with granulomas, is related to combined cellular and humoral immune defects with granulomas. An important gene associated with Combined Immunodeficiency with Skin Granulomas is RAG2 (Recombination Activating 2). Affiliated tissues include skin, bone and bone marrow.

Related Diseases for Combined Immunodeficiency with Skin Granulomas

Diseases related to Combined Immunodeficiency with Skin Granulomas via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 combined cellular and humoral immune defects with granulomas 34.0 RAG2 C11orf74

Symptoms & Phenotypes for Combined Immunodeficiency with Skin Granulomas

Drugs & Therapeutics for Combined Immunodeficiency with Skin Granulomas

Search Clinical Trials , NIH Clinical Center for Combined Immunodeficiency with Skin Granulomas

Genetic Tests for Combined Immunodeficiency with Skin Granulomas

Anatomical Context for Combined Immunodeficiency with Skin Granulomas

MalaCards organs/tissues related to Combined Immunodeficiency with Skin Granulomas:

41
Skin, Bone, Bone Marrow, B Cells, T Cells

Publications for Combined Immunodeficiency with Skin Granulomas

Variations for Combined Immunodeficiency with Skin Granulomas

ClinVar genetic disease variations for Combined Immunodeficiency with Skin Granulomas:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RAG2 NM_000536.4(RAG2): c.1375A> C (p.Met459Leu) single nucleotide variant Likely pathogenic 11:36614344-36614344 11:36592794-36592794
2 RAG2 NM_000536.4(RAG2): c.186C> A (p.Phe62Leu) single nucleotide variant Likely pathogenic 11:36615533-36615533 11:36593983-36593983
3 RAG2 NM_000536.4(RAG2): c.230C> A (p.Thr77Asn) single nucleotide variant Likely pathogenic rs121918574 11:36615489-36615489 11:36593939-36593939
4 RAG2 NM_000536.4(RAG2): c.1352G> C (p.Gly451Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs121918575 11:36614367-36614367 11:36592817-36592817

Expression for Combined Immunodeficiency with Skin Granulomas

Search GEO for disease gene expression data for Combined Immunodeficiency with Skin Granulomas.

Pathways for Combined Immunodeficiency with Skin Granulomas

GO Terms for Combined Immunodeficiency with Skin Granulomas

Sources for Combined Immunodeficiency with Skin Granulomas

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