User Posts: Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Combined Immunodeficiency with Childhood-Onset Kaposi Sarcoma
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Combined immunodeficiency with childhood-onset Kaposi sarcoma is a very rare genetic immune system disease. In this disease, a gene called TNFRSF4 does not ...

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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. ā€œCombined immunodeficiencyā€ 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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Combined Immunodeficiency Due to Dedicator of Cytokinesis 8 Protein Deficiency
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Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency is a rare, serious problem of the immune system caused by changes in a gene ...

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Combined Immunodeficiency Due to DOCK8 Deficiency
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Combined immunodeficiency due to DOCK8 deficiency is a rare, inherited disease where a gene called DOCK8 (dedicator of cytokinesis 8) does not work properly. ...

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Immune Dysfunction Due to T-Cell Inactivation From a Calcium Entry Defect
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Immune dysfunction due to T-cell inactivation from a calcium entry defect is a very rare, inherited immune system disease. In this condition, T cells (a type ...

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Immune Dysfunction Due to T-Cell Inactivation from a Calcium Entry Defect
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Immune dysfunction due to T-cell inactivation from a calcium entry defect is a very rare, inherited immune system disease. In this condition, T cells (a type ...

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Combined Immunodeficiency Due to Calcium Release-Activated Calcium (CRAC) Channel Dysfunction
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Combined immunodeficiency due to calcium release-activated calcium (CRAC) channel dysfunction is a very rare, inherited immune system disease. In this ...

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