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Table 1 Clinical features of kindred

From: Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency

Individual

III.1 (proband)

III.2

II.1

II.2

I.1

Birth year

1993

1995

N/A

1975

N/A

Diagnosis (age)

CHAI (23)

CHAI (22)

N/A

CHAI (43)

N/A

Autoimmune/infective manifestations (age at onset, if known)

RRMS (19)

ILD (21)

HGG (23)

Melanoma (23)

Recurrent LRTI (23)

HPV: CIN II/VIN III

Villous atrophy

Lymphocytic colitis (22)

Autoimmune cytopenia

 ITP (21), neutropenia (23)

Lymphocytic panenteritis (11)

Autoimmune thyroiditis (~ 17)

HGG (17)

SPI

HPV: Warts

Herpes zoster

HGG

SPI

Alopecia universalis (16)

ILD

NHL

Chronic sinusitis (turbinectomy 45)

Transient GIT disturbances—no diagnosis (40)

Alopecia universalis (29)

Presumed spongiform encephalopathy (77)

Other manifestations

B12 deficiency (23)

Osteoporosis (24)

Allergic rhinitis (childhood)

Asthma (childhood)

Eczema (childhood)

Osteopenia

Delayed puberty

Eczema

Acne

Presumed drug-induced cardiomyopathy

Asthma

Asthma

Allergic rhinitis

NA

Histological features

Enteric biopsies: intraepithelial lymphocytosis and villous atrophy

Gastric/colonic: panenteric lymphocytic infiltration with flattening of villus architecture.

N/A

N/A

N/A

Treatments

Methotrexate—current

Prednisolone—current

IVIg—current

Fingolimod (ITP)

Natalizumab (ILD)

Daclizumab (neutropenia)

6-Mercaptopurine: pancreatitis

IVIg—current

N/A

Nil

N/A

  1. BM bone marrow, CID combined immunodeficiency, CHAI CTLA-4 haploinsufficiency with autoimmune infiltration, CIN II cervical intraepithelial neoplasia grade II, GIT gastrointestinal tract, HGG hypogammaglobulinaemia, HPV human papilloma virus, ILD interstitial lung disease, ITP immune thrombocytopenia, IVIg intravenous immunoglobulin, LRTI lower respiratory tract infections, MS multiple sclerosis, N/A not available, NHL non-hodgkin lymphoma, SPI sinopulmonary infections, T-regs regulatory T-cells (CD4+CD25+CD127neg), sCD25 soluble CD25/IL22R alpha, VIN III vulval intraepithelial neoplasia grade III