Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Combined Immunodeficiency Due to STIM1 Deficiency
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Combined immunodeficiency due to STIM1 deficiency is a very rare inherited disease where the immune system does not work properly because a gene called STIM1 ...

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Combined Immunodeficiency with Expansion of Gamma Delta T Cells
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Combined immunodeficiency with expansion of gamma delta T cells (often shortened to CID with γδ T-cell expansion) is a rare group of primary (inborn) immune ...

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Combined Immunodeficiency Due to Partial RAG1 Deficiency
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Combined immunodeficiency due to partial RAG1 deficiency is a rare genetic disease where a child is born with an immune system that works, but works only a ...

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Immunodeficiency Type 16
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Immunodeficiency type 16 is a very rare inherited problem of the immune system. Doctors also call it “immunodeficiency-16” or “IMD16.” It is a primary ...

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Combined Immunodeficiency with Impaired Immunity to Human Herpes Virus 8
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Combined immunodeficiency with impaired immunity to human herpes virus 8 is a very rare inherited immune system disease. In this disease, the body cannot make ...

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Combined Immunodeficiency with Impaired Immunity to HHV-8
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Combined immunodeficiency with impaired immunity to HHV-8 is a very rare, inherited problem of the immune system where both T cells and B cells do not work ...

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Combined Immunodeficiency Due to OX40 Deficiency
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Combined immunodeficiency due to OX40 deficiency is a very rare inherited disease of the immune system. In this condition, a gene called TNFRSF4, also known as ...

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Combined Immunodeficiency Due to ORAI1 Deficiency
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Combined immunodeficiency due to ORAI1 deficiency is an ultra-rare genetic immune disorder where the body cannot move calcium properly into immune cells after ...

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X-Linked Moesin-Associated Immunodeficiency
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X-linked moesin-associated immunodeficiency (often shortened to X-MAID) is a very rare, inherited immune system disease. In this condition, a change (mutation) ...

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Immunodeficiency Type 50
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Immunodeficiency type 50 is a very rare, inherited problem of the immune system. It mainly affects T cells and B cells, which are white blood cells that fight ...

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Combined Immunodeficiency Due to Moesin Deficiency
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Combined immunodeficiency due to moesin deficiency is a rare, inherited immune system disease where both T cells and B cells do not work properly, so the body ...

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Combined Immunodeficiency Due to MALT1 Deficiency
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Combined immunodeficiency due to MALT1 deficiency is a rare genetic disease where the immune system does not work properly because a gene called MALT1 is ...

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Common Variable Immunodeficiency-8 with Autoimmunity
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Common variable immunodeficiency-8 with autoimmunity is a rare inherited immune system disease caused by harmful changes in the LRBA ...

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Combined Immunodeficiency Due to Lipopolysaccharide-Responsive Beige-Like Anchor (LRBA) Protein Deficiency
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Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency is a rare, inherited immune system disease where ...

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Combined Immunodeficiency Due to LRBA Deficiency
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Combined immunodeficiency due to LRBA deficiency is a rare inherited disease where a mistake in a single gene (the LRBA gene) makes the immune system weak and ...

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Combined Immunodeficiency with Intrauterine Growth Retardation–Natural Killer (NK) Cell Deficiency–Neutropenia
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Combined immunodeficiency with intrauterine growth retardation–natural killer (NK) cell deficiency–neutropenia is a very rare, inherited immune system disease. ...

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Combined Immunodeficiency Due to GINS Complex Subunit 1 Deficiency
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Combined immunodeficiency due to GINS complex subunit 1 deficiency is a very rare, inherited immune system disease. In this condition, a gene called GINS1 does ...

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Combined Immunodeficiency Due to GINS1 Deficiency
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Combined immunodeficiency due to GINS1 deficiency is a very rare genetic disease that weakens the immune system from birth. “Combined immunodeficiency” means ...

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Hyper-IgE Syndrome (HIES)
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Hyper-IgE syndrome (HIES) is a rare, inherited immune system disease where the body makes very high levels of the antibody IgE and cannot fight germs in a ...

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Autosomal Recessive Hyper-IgE Recurrent Infection Syndrome 2
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Autosomal recessive hyper-IgE recurrent infection syndrome 2 is a rare genetic immune system disease where the body cannot fight germs properly and blood ...

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