isolated agammaglobulinemia
ORPHA: 229717
Overview
Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with isolated agammaglobulinemia, sourced from HPO and Orphanet clinical annotations.
SinusitisOtitis mediaSkin rashMeningitisArthritisFailure to thriveClinodactyly of the 5th toeThrombocytopeniaAbnormality of neutrophilsAnemiaFeverAbnormal facial shapeDiarrheaMalabsorptionPneumoniaRecurrent respiratory infectionsImmunodeficiencyAutoimmunityShort statureAbnormal lymphocyte morphologyFatigueInflammatory abnormality of the eyeCellulitisAbnormality of the lymphatic systemAbnormality of the tonsilsSepsisRecurrent cutaneous abscess formationSkin ulcer
Classification & Codes
Orphanet Code
ORPHA:229717isolated agammaglobulinemia
| Orphanet | ORPHA:229717 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO