A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infe...
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding this condition is primarily due to its extreme rarity, which restricts the number of patients available for systematic clinical studies. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is still in its early stages. This can understandably lead to feelings of frustration for those affected, as comprehensive resources and information are scarce.
To navigate this condition, consider seeking a specialist in immunology or a geneticist with experience in genetic immunodeficiencies. Genetic counseling can provide valuable insights into the implications of the IFNGR1 gene mutation and its inheritance pattern. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer guidance and support. Participating in any available natural history studies, if they arise, could also contribute to a better understanding of this condition.
Actionable guidance for navigating care for autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
To navigate this condition, consider seeking a specialist in immunology or a geneticist with experience in genetic immunodeficiencies. Genetic counseling can provide valuable insights into the implications of the IFNGR1 gene mutation and its inheritance pattern. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer guidance and support. Participating in any available natural history studies, if they arise, could also contribute to a better understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding this condition is primarily due to its extreme rarity, which restricts the number of patients available for systematic clinical studies. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is still in its early stages. This can understandably lead to feelings of frustration for those affected, as comprehensive resources and information are scarce.
To navigate this condition, consider seeking a specialist in immunology or a geneticist with experience in genetic immunodeficiencies. Genetic counseling can provide valuable insights into the implications of the IFNGR1 gene mutation and its inheritance pattern. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer guidance and support. Participating in any available natural history studies, if they arise, could also contribute to a better understanding of this condition.
Actionable guidance for navigating care for autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
To navigate this condition, consider seeking a specialist in immunology or a geneticist with experience in genetic immunodeficiencies. Genetic counseling can provide valuable insights into the implications of the IFNGR1 gene mutation and its inheritance pattern. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer guidance and support. Participating in any available natural history studies, if they arise, could also contribute to a better understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding this condition is primarily due to its extreme rarity, which restricts the number of patients available for systematic clinical studies. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is still in its early stages. This can understandably lead to feelings of frustration for those affected, as comprehensive resources and information are scarce.
To navigate this condition, consider seeking a specialist in immunology or a geneticist with experience in genetic immunodeficiencies. Genetic counseling can provide valuable insights into the implications of the IFNGR1 gene mutation and its inheritance pattern. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer guidance and support. Participating in any available natural history studies, if they arise, could also contribute to a better understanding of this condition.
Actionable guidance for navigating care for autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
To navigate this condition, consider seeking a specialist in immunology or a geneticist with experience in genetic immunodeficiencies. Genetic counseling can provide valuable insights into the implications of the IFNGR1 gene mutation and its inheritance pattern. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer guidance and support. Participating in any available natural history studies, if they arise, could also contribute to a better understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
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