Combined Humoral and Cellular Immunity Deficiencies
Disorder | Inheritance | Gene Affected | Clinical Findings |
|---|---|---|---|
Autosomal recessive | ATM | Ataxia, telangiectasias, recurrent sinopulmonary infections, endocrine abnormalities (eg, gonadal dysgenesis, testicular atrophy, diabetes mellitus), increased risk of cancer | |
Cartilage-hair hypoplasia | Autosomal recessive | RMRP | Short-limbed dwarfism, common and opportunistic infections |
Combined immunodeficiency with inadequate but not absent T-cell function and normal or elevated immunoglobulins | Autosomal recessive or X-linked | NEMO | Common and opportunistic infections, lymphopenia, lymphadenopathy, hepatosplenomegaly, skin lesions resembling those of Langerhans cell histiocytosis in some patients |
Autosomal dominant or recessive | STAT3 (dominant) TYK2, DOCK8 (recessive) | Sinopulmonary infections; staphylococcal abscesses of skin, lungs, joints, and viscera; pulmonary pneumatoceles; pruritic dermatitis; coarse facial features; delayed shedding of baby teeth; osteopenia; recurrent fractures; tissue and blood eosinophilia | |
MHC antigen deficiencies | Autosomal recessive | Various including, RFX, RFXANK, RFX5, and RFXAP | Common and opportunistic infections |
Autosomal recessive or X-linked | Various, including JAK3, PTPRC (CD45), RAG1, RAG2 (autosomal recessive) IL-2RG (X-linked) | Oral candidiasis, Pneumocystis jirovecii pneumonia, diarrhea before 6 months, failure to thrive, graft vs host disease, absent thymic shadow, lymphopenia, bone abnormalities (in ADA deficiency), exfoliative dermatitis as part of Omenn syndrome* | |
X-linked recessive | WASP | Typically, pyogenic and opportunistic infections, eczema, thrombocytopenia Possibly gastrointestinal bleeding (eg, bloody diarrhea), recurrent respiratory infections, cancer (in 10% of patients > 10 years), varicella-zoster virus infection, herpesvirus infection | |
* Omenn syndrome is an autosomal recessive form of severe SCID causing erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, eosinophilia, hepatosplenomegaly, and elevated serum IgE levels. | |||
ADA =adenosine deaminase; ATM = ataxia telangiectasia–mutated; DOCK = dedicator of cytokinesis; IL-2RG = IL-2 receptor gamma; JAK = Janus kinase; MHC = major histocompatibility complex; NEMO = nuclear factor–kappa-B essential modulator; PTPRC = protein tyrosine phosphatase, receptor type, C; RAG = recombination activating gene; RFX = regulatory factor X; RFXANK = RFX containing ankyrin repeats; RFXAP = RFX-associated protein; RMRP = ribonuclease mitochondrial RNA-processing; SCID = severe combined immunodeficiency; STAT = signal transducer and activator of transcription; TYK = tyrosine kinase; WASP = Wiskott-Aldrich syndrome protein. | |||