Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals worldwide. This rarity restricts the scope of systematic clinical studies and comprehensive data collection. Furthermore, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to fully understand the condition's implications.
The primary clinical feature of this condition is a consistently low neutrophil count, which can lead to increased susceptibility to infections. Bone marrow maturation arrest is also a significant finding, observed in the majority of cases. Additionally, some patients may experience short stature and failure to thrive, indicating a broader impact on growth and development. These features highlight the critical need for careful monitoring and management of infections in affected individuals.
To navigate your care effectively, seek a hematologist with expertise in congenital neutropenia or related blood disorders. Genetic counseling is also recommended to discuss the implications of JAGN1 variants for you and your family. Although there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for support and information. Additionally, consider inquiring about any potential participation in natural history studies or registries that may arise as research progresses.
Actionable guidance for navigating care for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
To navigate your care effectively, seek a hematologist with expertise in congenital neutropenia or related blood disorders. Genetic counseling is also recommended to discuss the implications of JAGN1 variants for you and your family. Although there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for support and information. Additionally, consider inquiring about any potential participation in natural history studies or registries that may arise as research progresses.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals worldwide. This rarity restricts the scope of systematic clinical studies and comprehensive data collection. Furthermore, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to fully understand the condition's implications.
The primary clinical feature of this condition is a consistently low neutrophil count, which can lead to increased susceptibility to infections. Bone marrow maturation arrest is also a significant finding, observed in the majority of cases. Additionally, some patients may experience short stature and failure to thrive, indicating a broader impact on growth and development. These features highlight the critical need for careful monitoring and management of infections in affected individuals.
To navigate your care effectively, seek a hematologist with expertise in congenital neutropenia or related blood disorders. Genetic counseling is also recommended to discuss the implications of JAGN1 variants for you and your family. Although there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for support and information. Additionally, consider inquiring about any potential participation in natural history studies or registries that may arise as research progresses.
Actionable guidance for navigating care for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
To navigate your care effectively, seek a hematologist with expertise in congenital neutropenia or related blood disorders. Genetic counseling is also recommended to discuss the implications of JAGN1 variants for you and your family. Although there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for support and information. Additionally, consider inquiring about any potential participation in natural history studies or registries that may arise as research progresses.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals worldwide. This rarity restricts the scope of systematic clinical studies and comprehensive data collection. Furthermore, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to fully understand the condition's implications.
The primary clinical feature of this condition is a consistently low neutrophil count, which can lead to increased susceptibility to infections. Bone marrow maturation arrest is also a significant finding, observed in the majority of cases. Additionally, some patients may experience short stature and failure to thrive, indicating a broader impact on growth and development. These features highlight the critical need for careful monitoring and management of infections in affected individuals.
To navigate your care effectively, seek a hematologist with expertise in congenital neutropenia or related blood disorders. Genetic counseling is also recommended to discuss the implications of JAGN1 variants for you and your family. Although there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for support and information. Additionally, consider inquiring about any potential participation in natural history studies or registries that may arise as research progresses.
Actionable guidance for navigating care for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
To navigate your care effectively, seek a hematologist with expertise in congenital neutropenia or related blood disorders. Genetic counseling is also recommended to discuss the implications of JAGN1 variants for you and your family. Although there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for support and information. Additionally, consider inquiring about any potential participation in natural history studies or registries that may arise as research progresses.
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.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.