Diagnostic criteria for MHC class II deficiency

Definitive diagnosis*

Male or female patient with decreased intensity of expression (less than 5% of normal) of HLA-DR or DP on B cells or monocytes and a variant in one of the following genes: CIITA, RFXB, RFX5, or RFXAP.

Probable diagnosis

Male or female patient with decreased intensity of expression (less than 5% of normal) of HLA-DR or DP on B cells and monocytes and all of the following:

1. Failure to thrive, opportunistic infections, or persistent viral infections.

2. Normal numbers of T cells and B cells.

3. Normal proliferative responses to mitogens.

Possible diagnosis*

Male or female patient with decreased intensity of expression (less than 5% of normal) of HLA-DR or DP on B cells or monocytes, and normal numbers of T cells and B cells, who has at least one of the following:

1. Hypogammaglobulinemia.

2. Normal mitogen responses but absent T cell proliferation to antigens.

3. Reduced numbers of CD4+ cells.

4. Failure of mononuclear cells to stimulate a mixed lymphocyte culture.

HLA: human leukocyte antigen; CIITA: class II transactivator; RFXB: regulatory factor X, B; RFX5: regulatory factor X, 5; RFXAP: regulatory factor X-associated protein.
* Patients with a definitive or probable diagnosis are assumed to have a greater than 98 and 85% probability, respectively, that in 20 years they will still have the same diagnosis. Patients with a possible diagnosis are those that have some but not all of the characteristic clinical or laboratory findings of a particular disorder.

From Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 1999; 93:190.

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Diagnostic criteria for MHC class II deficiency