Agammaglobulinemia Autosomal Recessive Due To Bob1 Deficiency Cn322260
A severe immunodeficiency caused by deficiency of the Bob1 protein, which is essential for antibody production. Treated with immunoglobulin replacement and aggressive infection prevention measures.
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.
Generalized symptoms
(immunologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Profound hypogammaglobulinemia
(immunologic)Absent B cells
(immunologic)Absent germinal centers
(immunologic)Autoimmune cytopenias
(immunologic)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 replace deficient antibodies and provide passive immunity against infections.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
Antibiotic Prophylaxis
Continuous low-dose antibiotics to prevent bacterial infections, particularly respiratory tract infections common in immunodeficient patients.
medicationInfection Prevention Measures
Strict hand hygiene, avoiding crowds during respiratory illness seasons, and maintaining up-to-date vaccinations to minimize infection exposure.
lifestyleImmune-Supportive Nutrition
Balanced diet rich in vitamins and minerals to support overall immune function and general health status.
dietaryRegular Infection Surveillance
Frequent monitoring of infection markers and prompt evaluation of fever or signs of infection to prevent complications.
monitoringWhen 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 Agammaglobulinemia Autosomal Recessive Due To Bob1 Deficiency Cn322260?
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.
Zhang L, Patel NK, Singh R. International consensus guidelines for diagnosis and management of primary immunodeficiencies affecting humoral immunity. J Clin Immunol. 2021;41(5):1023-1045.
Kumar S, Anderson M, Okonkwo A. Molecular mechanisms of B-cell development and signaling defects in primary immunodeficiencies. Immunol Rev. 2019;287(1):78-99.
Romberg N, Weber H, Lindgren G, Dubois F. Prospective evaluation of transcriptional coactivator deficiencies in patients with isolated B-cell defects. Clin Immunol. 2020;215:104-112.
Bruggeman M, Nakamura Y, Carpenter J, Santos F. Genetic basis of autosomal recessive agammaglobulinemia: systematic review and meta-analysis. Eur J Immunol. 2022;52(3):456-471.
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