Disease

X-linked agammaglobulinemia1

Gene

BTK

Inheritance XL
Current Treatments replacement immunoglobulin treatment
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile, complete blood count1
Disease Frequency (per 100,000) 0.752
Genes Included in Disease Frequency BTK, IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1, TCF3
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Agammaglobulinemia&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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