Autoimmune Neutropenia

 

CVID

 

CVID - Approximately 25% of patients develop autoimmune disease.  Autoimmune hemolytic anemia and ITP are the most frequently reported conditions.  However, autoimmune neutropenia has also been reported.     

 

IPEX

 

IPEX - Approximately 50% of patients with this syndrome develop autoimmune cytopenias including autoimmune neutropenia, ITP, coombs positive hemolytic anemia.  

 

MHC Class II Deficiency

 

MHC Class II deficiency - Patients have been reported to develop autoimmune neutropenia or hemolytic anemia (10% of patients). 

 

PNP Deficiency

 

Purine Nucleoside Phosphorylase (PNP) deficiency - Patients develop a number of autoimmune manifestations including autoimmune neutropenia, hemolytic anemia, and ITP.  Less common manifestations include SLE and CNS vasculitis.  

 

Wiskott-Aldrich Syndrome

 

Wiskott-Aldrich syndrome - Autoimmune disorders have been reported in 40% of patients.  These include autoimmune neutropenia, hemolytic anemia, skin and cerebral vasculitis, arthritis, renal disease, and Henoch-Shonlein purpura.  Decreased T regulatory cell function is the proposed mechanism for this disease manifestation. 

 

CTLA4 Deficiency

 

CTLA4 Deficiency - patients develop multi-organ autoimmune manifestations including inflammatory bowel disease,autoimmune cytopenia, psoriasis, and thyroid disease. Patients also develop splenomegaly, hepatomegaly, bronchiectasis, GLILD, and generalized lymphadenopathy.

 

LRBA Deficiency

 

LRBA Deficiency - patients develop multi-organ autoimmune manifestations including inflammatory bowel disease,autoimmune cytopenia, psoriasis, and thyroid disease. Patients also develop splenomegaly, hepatomegaly, bronchiectasis, GLILD, and generalized lymphadenopathy.

 

PIK3CD Gain of Function

 

PIK3CD Gain of Function - patients develop autoimmune manifestations including inflammatory bowel disease, autoimmune cytopenia, and autoimmune primary sclerosing cholangitis. Patients may also develop EBV/CMV induced lymphoproliferation, hepatosplenomegaly and malignancy (lymphoma).

STAT3 Gain of Function

 

STAT3 Gain of Function - patients develop multi-organ autoimmune manifestations including autoimmune enteropathy autoimmune cytopenia, type I diabetes, and interstitial lung disease.