Table 2.

Indication and outcome of hematopoietic cell transplantation for autoinflammatory diseases

Disease	Clinical features	HCT indication	HCT outcome	Post-HCT complications
DADA2	Fever, immunodeficiency, polyarthritis nodosa, early-onset stroke, bone marrow failure	Most common: PRCA, neutropenia Others: pancytopenia, AIHA, DLBCL, immune dysregulation, SAA, lymphopenia	37/40 (92.5%) survived	Graft failure
OAS1 GOF variant	Recurrent fever, dermatitis, inflammatory bowel disease, alveolar proteinosis, hypogammaglobulinemia	All cases may be indicated before complications are allowed	1/5 survived	Renal failure, sepsis, chronic GVHD
NOCARH	Neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, HLH	HLH	2/3 survived
PAMI syndrome	Skin vasculitis, hepatosplenomegaly, lymphadenopathy, cytopenia, hyperzincemia, hypercalprotectinemia	4: refractory to medical therapy 1: MDS	5/5 survived	HLH, GVHD
MKD	Fever, gastrointestinal symptoms, lymphadenopathy, arthralgia, myalgia, skin rash, mucosal ulcers	Failure of anti-inflammatory therapies and very severe disease cases	2/9 survived	Grade II–IV GVHD Unlikely to improve neuromuscular symptoms
HA20	Behcet's disease-like autoinflammatory phenotype, autoimmune diseases	Refractory to multiple immunosuppressants and cytokine antagonist	2/2 survived
VEXAS syndrome	Severe systemic inflammation, MDS	Younger patients	27/33 (81.8%) survived	Acute and/or chronic GVHD, infection
SAAD	Neutrophilic panniculitis, progressive B and NK lymphopenia	Severe cases	2/4 survived	Growth retardation and motor development impairment
SIFD syndrome	microcytic or sideroblastic anemia, recurrent fever, neurological abnormalities, humoral immunodeficiency, gastrointestinal symptoms	Severe cases	2/5 survived	Transplantation-related mortality

HCT hematopoietic cell transplantation, DADA2 deficiency of adenosine deaminase 2, PRCA pure red cell aplasia, AIHA autoimmune hemolytic anemia, DLBCL diffuse large B-cell lymphoma, SAA severe aplastic anemia, OAS1 oligoadenylate synthetase, GOF gain-of-function, GVHD graft-versus-host disease, NOCARH neonatal-onset cytopenia autoinflammation rash and hemophagocytic lymphohistiocytosis, HLH hemophagocytic lymphohistiocytosis, PAMI proline–serine–threonine phosphatase-interaction protein 1-associated myeloid-related proteinemia inflammatory, MDS myelodysplastic syndrome, MKD mevalonate kinase deficiency: HA20 haploinsufficiency of A20, VEXAS vacuoles E1 enzyme X-linked autoinflammatory somatic, SAAD SAMD9L-associated autoinflammatory disease, SIFD sideroblastic anemia with B-cell immunodeficiency periodic fever and developmental delay