Table 1 Severe and protracted diarrhoea in the patients with PIDs who responded to antibiotics.
Gender | Tested age (months) | Genetic mutations | Colitis pathogen | Effective treatment [IgG level mg/dL at episode] (diarrhoea/treatment duration, days)** | TPN | Associated symptoms | ||
|---|---|---|---|---|---|---|---|---|
(days) | Bronchiectasis | Sepsis | Other significant events (mortality, cause) | |||||
Predominantly antibody deficiencies | ||||||||
Btk1-1/M | 40 | Btk: Int 14 (−2)A > G; skip exon 14 | undefined | IVIG [93], CTZ, AMK (15/16) | 7 | + | + | |
Btk1-2/M | 14 | Btk: Int 14 (−2)A > G; skip exon 14 | Pseudomonas | IVIG [102], CTZ, AMK (14/15) | 7 | |||
Btk2/M | 9 | Btk: c.1821C > T; p. Arg 641 Cys | Pseudomonas | IVIG [92], CTZ, AMK (14/15) | 8 | + | Recurrent cellulitis | |
Btk3/M | 36 | Btk: c. 1042 T > G; p. Phe304Val | Pseudomonas | IVIG [107], CTZ, AMK (14/15) | 8 | Recurrent sinopulmonary infections | ||
Btk4/M | 110 | Btk: c.232 C > T; p. Glu78Stop | Salmonella | IVIG [205], CTX, CAR (14/16) | 7 | |||
Btk5/M | 26 | Btk: c.1562 A > T; p. Asp 521 Val | Pseudomonas | IVIG [78], CTZ, AMK (17/19) | 9 | + | Polyarthritis, facial cellulitis | |
CVID1/M | 273 | Undefined* | undefined | IVIG [263], CTX, AMK (18/20) | 10 | + | Recurrent sinopulmonary infections | |
CVID2/M | 127 | Undefined* | undefined | IVIG [169], CTZ, AMK (15/17) | 5 | + | Recurrent sinopulmonary infections, failure to thrive | |
CVID3/M | 129 | Undefined* | undefined | IVIG [205], CTZ, AMK (14/16) | 4 | + | Recurrent sinopulmonary infections, Takayashi arteritis | |
CVID-4/F | 92 | Undefined* | Salmonella | IVIG [187], CTX (15/18) | 5 | Recurrent sinusitis, otitis media | ||
Combined immunodeficiencies | ||||||||
SCID1-IL2RG/M | 10 | IL2RG: c. 220 T > G; p. Trp74Gly | E. coli | IVIG [104], CTX (14/17) | 8 | + | PJP, BCG-related infection, stem cell transplantation | |
SCID2-IL2RG/M | 6 | IL2RG: c. 676 G > T; p. Arg226Cys | Pseudomonas | IVIG [99], CTZ, AMK (14/16) | 6 | BCG-related infection, stem cell transplantation | ||
SCID3-IL2RG/M | 3 | IL2RG: c. 865 C > T; Arg289Stop | Salmonella | IVIG, CTX (14/15) | 5 | Interstitial pneumonitis (respiratory failure) | ||
SCID4-IL2RG/M | 3 | IL2RG: c.854 G > A, skip exon 6 | Cytomegalovirus | IVIG [107], CTX, Gancyclovir (20/21) | 12 | + | Pneumonitis (respiratory failure) | |
SCID5/M | 2 | undefined | undefined | IVIG [245], CTZ, AMK (15/17) | 7 | + | Pneumonitis, pulmonary haemorrhage, (respiratory failure) | |
SCID6-RAG2/F | 4 | RAG1: Leu474Arg, Arg776Gln | undefined | IVIG [542], CTX, AMK (14/16) | 7 | Stem cell transplantation | ||
HIGM1-CD40L/M | 121 | CD40L: Del 347 A | Cryptosporidium | IVIG [213], CTX, AMK (15/18), nitazoxanide (15/18)^ | 10 | + | PJP, Recurrent sinopulmonary infections | |
HIGM2-CD40L/M | 3 | CD40L: c.526 T > A; p.Tyr 169 Asn | Salmonella | IVIG [87], CTX (17/19) | 8 | + | ||
HIGM3-CD40L/M | 5 | CD40L: c.526 T > A; p.Tyr 169 Asn | E. coli Coxsackievirus B4 | IVIG [112], CTX, AMK (14/15) | 4 | + | + | Cholecystitis, cholangitis, mortality (lymphoma) |
Combined immunodeficiencies with associated or syndromic features | ||||||||
WAS1/M | 3 | WASP: Del promoter, exon 1 and 2 | undefined | IVIG [421], CTX, AMK (14/17) | 7 | + | Bloody diarrhoea, mortality (Staphy. aureus sepsis) | |
WAS2/M | 3 | WASP: Del 243–250 nu | undefined | IVIG [354], CTX, AMK (14/16) | 5 | Bloody diarrhoea, severe atopic dermatitis, mortality (intracranial haemorrhage) | ||
WAS3/M | 2 | WASP: c. 91 G > A, p. Glu31Lys | undefined | IVIG [743], CTX, AMK, MEP (18/20) | 10 | Bloody diarrhoea, stem cell transplantation | ||
Congenital phagocyte number, function or both | ||||||||
CGD1-gp91/M | 31 | Gp91: Del 1693G | IBD-like | CTX, AMK, prednisolone (14/17) | 5 | + | Aspergillosis, pneumatocele, BCG-related infection | |
CGD2-gp91/M | 14 | Gp91: c.1028 C > A, p.Thr343Lys | Salmonella | CTX (14/15) | 5 | Staphy. aureus lymphadenitis, perianal ulcers, stem cell transplantation | ||
CGD3-gp91/M | 94 | Gp91: c.1249 G > T, p. Gly412Val | Salmonella | CTX (14/16) | 7 | + | Aspergillosis, BCG-related infection, (respiratory failure) | |
CGD4-gp47/M | 102 | Gp47: del 75, 76GT (exon 2) | Pseudomonas | CTZ, AMK (14/17) | 7 | + | Aspergillosis, recurrent oral ulcers | |
