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Condition report · Immunological

Familial HLH

Inherited disorders in which immune cells cannot switch off properly after an infection, leading to a dangerous build-up of activated immune cells and inflammation. Most cases begin in infancy, but milder gene changes can cause first symptoms in adolescence or adulthood.

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

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The 4 conditions we analyse

Familial hemophagocytic lymphohistiocytosis type 2 (PRF1)

Autosomal recessive

Caused by changes in the PRF1 gene, which makes perforin, a protein immune cells use to destroy infected cells.

What a diagnosis changes

Early recognition allows prompt treatment and planning for a stem cell transplant, which is the only cure.

Genes analysed

Also known as

familial hemophagocytic lymphohistiocytosis type 2; FHL2; genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1; hemophagocytic lymphohistiocytosis, familial, 2; HLH2; HPLH2; PRF1 genetic hemophagocytic lymphohistiocytosis

MONDO:0011337OMIM 603553MedGen 400366

Familial hemophagocytic lymphohistiocytosis type 3 (UNC13D)

Autosomal recessive

Caused by changes in the UNC13D gene, which immune cells need to release the contents of their killing granules.

What a diagnosis changes

Early recognition allows prompt treatment and planning for a stem cell transplant, which is the only cure.

Genes analysed

Also known as

familial hemophagocytic lymphohistiocytosis type 3; FHL3; genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D; hemophagocytic lymphohistiocytosis, familial, 3; HLH3; HPLH3; UNC13D genetic hemophagocytic lymphohistiocytosis

MONDO:0012146OMIM 608898MedGen 332383

Familial hemophagocytic lymphohistiocytosis type 4 (STX11)

Autosomal recessive

Caused by changes in the STX11 gene, which is involved in the release of killing granules from immune cells.

What a diagnosis changes

Early recognition allows prompt treatment and planning for a stem cell transplant, which is the only cure.

Genes analysed

Also known as

familial hemophagocytic lymphohistiocytosis type 4; FHL4; genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11; hemophagocytic lymphohistiocytosis, familial, 4; HLH4; HPLH4; STX11 genetic hemophagocytic lymphohistiocytosis

MONDO:0011336OMIM 603552MedGen 350245

Familial hemophagocytic lymphohistiocytosis type 5 (STXBP2)

Autosomal recessive

Caused by changes in the STXBP2 gene, which works with STX11 in the release of killing granules from immune cells.

What a diagnosis changes

Early recognition allows prompt treatment and planning for a stem cell transplant, which is the only cure.

Genes analysed

Also known as

familial hemophagocytic lymphohistiocytosis type 5; FHL5; genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2; hemophagocytic lymphohistiocytosis, familial, 5; hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease; STXBP2 genetic hemophagocytic lymphohistiocytosis

MONDO:0013135OMIM 613101MedGen 416514

Limitations

  • Some disease-causing changes in UNC13D lie deep within introns or involve a large inversion; these require structural variant calling and intronic review and may not be detected.

Other immunological conditions

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