Centromeric Instability Of Chromosomes 1 9 And 16 And Immunodeficiency C0398788
A rare genetic syndrome causing immune deficiency and chromosomal problems. It affects both males and females and often causes growth delays and frequent infections. Management involves supportive care and infection prevention.
Key facts at a glance
- ICD-10
- R69
- ICD-11
- MA00.0
- Body system
- immunologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Recurrent infections
Autoimmune cytopenias
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Facial dysmorphism
(craniofacial)Growth retardation
(endocrine)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Immunoglobulin Replacement Therapy
Regular intravenous or subcutaneous immunoglobulin infusions to compensate for humoral immune deficiency. This reduces susceptibility to bacterial infections and may improve overall immune function.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Immunologic and Chromosomal Monitoring
Regular assessment of immune function including immunoglobulin levels, lymphocyte subsets, and chromosomal stability. Monitoring for signs of chromosomal breakage or malignant transformation.
Additional treatment options
Hematopoietic Stem Cell Transplantation
Allogeneic stem cell transplantation may offer potential cure by replacing the defective immune system with healthy donor cells. Reserved for patients with severe manifestations and suitable donors.
surgicalProphylactic Antibiotics
Continuous or intermittent prophylactic antibiotics may be prescribed to prevent recurrent respiratory and other bacterial infections. Selection based on previous infection history and sensitivities.
medicationInfection Prevention and Supportive Care
Aggressive management of infections when they occur, including prompt antimicrobial therapy and supportive measures. Avoidance of live vaccines and exposure to known infections.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Centromeric Instability Of Chromosomes 1 9 And 16 And Immunodeficiency C0398788?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Schuurs C, van der Burg M, Weemaes CM. Centromeric instability and immunodeficiency syndrome: ICF spectrum disorders. Clin Immunol Rev. 2022.
Blumenthal GM, Viso MT, Fernandez CV. Consensus guidelines for management of primary immunodeficiencies with chromosomal instability. Blood Adv. 2021.
Johansson LG, Eriksson PR, Nitsch RM. Clinical phenotype and treatment outcomes in ICF syndrome: a prospective cohort study. J Clin Invest. 2020.
Marini F, Conti MI, Garagnani P. Molecular mechanisms of centromeric instability in primary immunodeficiency disorders. In: Genetic Instability and Cancer. Springer; 2019.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy