The patient was referred to our hospital with liver dysfunction, respiratory distress, anal abscess, poor feeding and wasting; the patient appeared to suffer from severe and persistent infections. [ncbi.nlm.nih.gov]

puberty ) FSHR ( Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes insipidus [en.wikipedia.org]

Disease definition Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. [orpha.net]

Clinically, XSCID is characterized by failure to thrive, increased susceptibility to bacterial and viral pathogens, and a lack of palpable peripheral lymph nodes. [animalabs.com]

Although human and canine XSCID share similar features, such as a failure to thrive, hypogammaglobulinemia, an absent T cell mitogenic response, and thymic dysplasia, near normal percentages of T cells are observed in some affected dogs, whereas XSCID [ncbi.nlm.nih.gov]

Due to a lack of functional T cells, natural killer cells, and B lymphocytes, infants have severe and recurrent infections and exhibit a failure to thrive, rashes, diarrhea and frequent illnesses. [sema4genomics.com]

The clinical presentation during the first year of life almost universally includes failure to thrive, oral/diaper candidiasis, recurrent infections, absent tonsils and lymph nodes, persistent infections and infections with opportunistic organisms. [genedx.com]

Physical findings : Infants and children with SCID have: • Recurrent, severe infections (respiratory, meningitis, sepsis); • Rashes that look like eczema; • Chronic diarrhea; • Oral thrush; and • Failure to thrive (FTT). [secure.ssa.gov]

SCID Symptoms & Diagnosis Symptoms In addition to frequent and often very severe respiratory infections, other symptoms of SCID in infants include poor growth, rashes that look like eczema, chronic diarrhea and recurrent thrush in the mouth, although [aaaai.org]

Recurrent eczema -like rashes are also a common symptom. [en.wikipedia.org]

Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism [en.wikipedia.org]

[…] syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis [en.wikipedia.org]

FINDINGS: All patients have shown substantial improvements in clinical and immunological features, and prophylactic medication could be withdrawn in two. No serious adverse events have been recorded. [ncbi.nlm.nih.gov]

Furthermore, this is the first report that describes the patient with X-SCID accompanying opisthotonus. [ncbi.nlm.nih.gov]

CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia [en.wikipedia.org]