Table 2.

X-Linked Agammaglobulinemia: Genes of Interest in the Differential Diagnosis of Congenital Agammaglobulinemia and Absent B Cells

Gene 1Disorder 1MOI
BLNK BLNK deficiencyAR
CD79A Ig alpha (Igα) deficiencyAR
CD79B Ig beta (Igβ) deficiencyAR
FNIP1 FNIP1 deficiencyAR
IGHM Mu (μ) heavy chain deficiency 2AR
IGLL1 Lambda 5 (λ5) deficiencyAR
PIK3CD p110 delta (p110δ) deficiencyAR
PIK3R1 p85 deficiencyAR
SLC39A7 SLC39A7 (ZIP7) deficiencyAR
SPI1 PU1 deficiencyAD
TCF3 E47 transcription factor deficiencyAD
AR
TOP2B Hoffman syndrome / TOP2B deficiencyAD

AD = autosomal dominant, AR = autosomal recessive; MOI = mode of inheritance

1.
2.

At least 30 individuals with more than 20 different pathogenic variants in IGHM have been reported [Lopez Granados et al 2002, Ferrari et al 2007, van Zelm et al 2008]. These individuals tend to come to medical attention at an earlier age and are more likely to have life-threatening infections than individuals with XLA, but clinical overlap is considerable.

From: X-Linked Agammaglobulinemia

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