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Condition report · Immunological

Agammaglobulinemia (XLA)

Inherited conditions in which B cells fail to develop, so the body makes almost no antibodies and is prone to serious bacterial infections from infancy. The most common form is X-linked agammaglobulinaemia (BTK); rarer autosomal forms involve genes such as IGHM, CD79A, CD79B, BLNK and TCF3.

A condition report looks for rare variants known to cause the conditions it covers.

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The 4 conditions we analyse

X-linked agammaglobulinaemia (Bruton type, BTK)

X-linked recessive

Absent B cells and very low antibody levels caused by changes in BTK, usually affecting boys from a few months of age.

What a diagnosis changes

Lifelong immunoglobulin replacement, prompt treatment of infections and avoiding live vaccines prevent most serious complications.

Genes analysed

Also known as

agammaglobulinemia, Bruton tyrosine kinase; agammaglobulinemia, BTK; X-linked agammaglobulinemia; agammaglobulinemia, X-linked 1, X-linked recessive; Bruton type agammaglobulinemia; Bruton's agammaglobulinemia; Bruton's Sex-linked agammaglobulinemia; Bruton's X-linked agammaglobulinemia; BTK-deficiency; XLA

MONDO:0010421OMIM 300755Orphanet 47MedGen 65123

Autosomal agammaglobulinaemia

Absent or very few B cells caused by changes in genes of the B-cell receptor pathway, such as IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 and TCF3.

What a diagnosis changes

Lifelong immunoglobulin replacement, prompt treatment of infections and avoiding live vaccines prevent most serious complications.

Genes analysed

Also known as

agammaglobulinemia, non-Bruton type; AGM

Includes 8 related subtypes ↓
  • agammaglobulinemia 2, autosomal recessive
  • agammaglobulinemia 3, autosomal recessive
  • agammaglobulinemia 4, autosomal recessive
  • agammaglobulinemia 5, autosomal dominant
  • agammaglobulinemia 6, autosomal recessive
  • agammaglobulinemia 7, autosomal recessive
  • agammaglobulinemia 8, autosomal dominant
  • autosomal recessive agammaglobulinemia 1
MONDO:0011096Orphanet 33110MedGen 316941

Agammaglobulinaemia 9 (SLC39A7)

Autosomal recessive

Absent B cells and antibody deficiency caused by changes in the zinc transporter gene SLC39A7.

What a diagnosis changes

Lifelong immunoglobulin replacement, prompt treatment of infections and avoiding live vaccines prevent most serious complications.

Genes analysed

Also known as

AGM9

MONDO:0030519OMIM 619693Orphanet 693627MedGen 1794269

Agammaglobulinaemia 10 (SPI1)

Autosomal dominant

Antibody deficiency with reduced B cells caused by a single changed copy of SPI1 (PU.1).

What a diagnosis changes

Lifelong immunoglobulin replacement, prompt treatment of infections and avoiding live vaccines prevent most serious complications.

Genes analysed

Also known as

AGM10

MONDO:0030529OMIM 619707MedGen 1806624

Other immunological conditions

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