Tesch et al reported the Immune Deficiency and Dysregulation Activity (IDDA) score to evaluate patients with LRBA deficiency. The authors are from multiple institutions from around the world, European Society for Blood and Marrow Transplantation and European Society for Immunodeficiencies.
Parameters:
(1) autoimmune cytopenia
(2) enteropathy (inflammatory bowel disease)
(3) lymphoproliferation, splenomegaly and/or hepatomegaly
(4) lung disease (parenchymal lung disease, lymphocytic interstitial lung disease, granulomatous lymphocytic interstitial lung disease)
(5) skin (alopecia, vitiligo, other) and/or eye (uveitis, other) manifestations
(6) endocrinopathy (insulin-dependent diabetes, thyroiditis, other)
(7) arthritis or other musculoskeletal manifestations
(8) autoimmune hepatitis, cholangitis and/or pancreatitis
(9) glomerulonephritis, nephropathy, tubulopathy
(10) neurologic manifestations
(11) failure to thrive, wasting, malabsorption
(12) severe infections, opportunistic infections (excluding chronic infestations)
|
Response
|
Grade
|
Points
|
|
absent or inactive
|
0
|
0
|
|
mild, transient
|
I
|
1
|
|
moderate
|
II
|
2
|
|
severe
|
III
|
3
|
|
life-threatening or refractory to therapy
|
IV
|
4
|
subscore for graded manifestations =
= SUM(points for all of the parameters)
Interpretation:
• minimum subscore: 0
• maximum subscore: 48
• The subscore is combined with other factors and symptoms for the final IDDA.
