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. 2022 Sep 24;30:101008. doi: 10.1016/j.conctc.2022.101008

Table 2.

Inclusion criteria.
Molecular diagnosis of CTLA4 (haplo)-insufficiency or LRBA deficiency with either published mutations or mutations with proven functional effect (impaired CTLA4 staining or CTLA4-dependent transendocytosis)
Age ≥18 years.
IgG serum trough level ≥4 g/l ( ± IRT): last test result within 3 months at baseline visit.
Signed written informed consent.
Need for intervention on clinical grounds or continued need of therapy with abatacept as evaluated by the treating physician.
One organ system has to be involved. Organ involvements are defined as follows. In case of pretreatment with abatacept, organ involvement should be defined using retrospective data from the period before first application of abatacept.



Patients with lung involvement:
  • •

    typical radiographic features of Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) in chest CT scan

  • AND/OR

  • •

    Lung function impairment (e.g. reduced total lung capacity (TLC), forced vital capacity (FVC), reduced diffusing capacity for carbon monoxide (DLCO), reduced pO2 at rest or exercise-induced)

  • •

    if possible, bronchoalveolar lavage (BAL)and/or lung biopsy performed to exclude infection and malignancy




Patient with gut involvement (enteropathy):
  • •

    typical bowel-related symptoms such as recurrent diarrhea, malabsorption, weight loss

  • AND/OR

  • •

    calprotectin in stool ≥50 μg/g

  • AND

  • •

    exclusion of infections by stool testing

  • •

    in case of positive stool testing on current infection, eradication therapy has to be performed before inclusion to trial. Patients with chronic therapy resistant bowel infections can be included.

  • •

    if possible, inflammation proven with deep bowel biopsy




Patients with cytopenias:
  • •

    platelets ≤100.000/μl

  • AND/OR

  • •

    Hb ≤ 10 g/dl




Patients with CNS involvement:
  • •

    any cerebral lesions in cMRI or cCT

  • •

    if possible, cerebral spinal fluid (CSF) analysis performed to exclude infection and malignancy




Patients with lymphoproliferation:
  • •

    spleen maximum cephalocaudal diameter ≥11 cm

  • AND/OR

  • •

    enlargement of one lymph node group




Patients with involvement of immune system:
•Absolute total lymphocyte count
•OR/AND≤1000/μl
•Absolute total CD4+ T cell count
•OR/AND≤500/μl
•Naïve (CD4+CD45RA+) T cell % of CD4+
•OR/AND≤20%
•CD4 T cell activation, HLA-DR+ in CD4+
•OR/AND≥20%
•PD1 expression on CD8+ cells, CD8+PD1+ in % of CD8+
•OR/AND≥25%
•Switched memory (CD19/20+, IgM-, CD27+) B cell numbers in % of B cells, CD19/20+, IgM-, CD27+≤6%



Patients with skin involvement:
  • •

    skin lesions on body surface

  • •

    eczematous, ulcerative or psoriasis-like skin lesions