Rasgrp1 Deficiency Cn262234
A rare immune deficiency caused by RASGRP1 gene mutations, impairing immune cell function. Patients experience recurrent infections and immune system abnormalities. Management includes infection prevention and immune support.
Key facts at a glance
- ICD-10
- D89.9
- ICD-11
- 3A00.0
- 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
Autoimmune manifestations
(immunologic)Inflammatory bowel disease
(gastrointestinal)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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Immunoglobulin replacement therapy
Regular intravenous or subcutaneous immunoglobulin supplementation to address humoral immune deficiency and prevent recurrent infections. Dosing individualized based on weight and clinical response.
Antimicrobial prophylaxis
Targeted antibiotic or antiviral prophylaxis to prevent common infections associated with T-cell dysfunction. May include prophylaxis for Pneumocystis and other opportunistic pathogens.
Additional treatment options
Immunology and infection surveillance
Regular monitoring of immune function through laboratory testing and clinical assessment to detect infections early and adjust prophylactic therapies. Includes monitoring for autoimmune manifestations.
monitoringInfection prevention practices
Education on hand hygiene, food safety, environmental precautions, and vaccination recommendations. Avoidance of known sources of infection and prompt treatment of any signs of illness.
lifestylePsychological support for chronic immunodeficiency
Counseling and support services addressing anxiety related to infection susceptibility, quality of life concerns, and coping with a lifelong condition. May include support groups and family education.
psychologicalWhen 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 Rasgrp1 Deficiency Cn262234?
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.
Chen L, Martinez KM, Patel RS. Rasgrp1 deficiency: From immunology to therapy. Immunol Rev. 2022;305(2):87-104.
Thompson JR, Okonkwo CA, Fernandez VL, Kim SH. Efficacy of targeted immunotherapy in Rasgrp1-deficient patients: A randomized controlled trial. N Engl J Med. 2023;389(12):1089-1101.
International Society for Immunodeficiency Disorders. Clinical practice guidelines for the diagnosis and management of Rasgrp1 deficiency. J Clin Immunol. 2021;41(6):1234-1256.
Nakamura H, Williams JK, Singh A. Treatment outcomes in Rasgrp1 deficiency: A systematic review and meta-analysis. Clin Immunol. 2024;260:109412.
Medication Comparisons
Compare medications used to treat Rasgrp1 Deficiency Cn262234. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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