Short Stature
Cartilage Hair Hypoplasia - Patients have short stature resembling achondroplasia due to disproportionate shortening of the extremities. There is limitation of elbow extension due to flexion contractures. Fine sparse hair and a combined immunodeficiency are other key features.
Schimke Immune-Osseous Dysplasia
Schimke immune-osseous dysplasia - Patients have IUGR, short stature, spondyloepiphyseal dysplasia, defective cellular immunity, and progressive renal failure.
XLA with growth hormone deficiency - Patients present with recurrent sinopulmonary infections similar to other patients with XLA. However, patients also develop short stature and delayed onset puberty due to growth hormone deficiency. The short stature is responsive to growth hormone injections.
STAT 5b deficiency - Patients present with short stature due to growth hormone insensitivity and T cell immunodeficiency (decreased number and function). B cell numbers are normal. STAT 5b is required for IL-2, IL-4 and growth hormone signaling. The short stature is unresponsive to exogenous growth hormone injections.
CHARGE syndrome - Patients are typically appropriate size for gestational age. However, linear growth then decreases significantly starting in the first year of life. T cell lymphopenia and a T-B+NK+ SCID phenotype may occur in CHARGE syndrome.
Nijmegen breakage syndrome - Patients are often small for gestational age at birth and have growth retardation during the first 2 years of life. Additional features of this disease include severe microcephaly, bird-like facies, vitiligo, café au lait spots, and immunodeficiency (both humoral and T cell defects have been described).
Bloom Syndrome - Patients have short stature with relatively normal proportions. Other features include hypogammaglobulinemia, erythematous facial rash from sun sensitivity, and hypo/hyperpigmentation.
Cernnunos deficiency - Patients have growth retardation, microcephaly, bird-like facies (sloping forehead, receding chin/micrognathia, long nose), and radiosensitive combined immunodeficiency.
DNA Ligase IV deficiency - Patients have IUGR, growth retardation, microcephaly, bird-like facies, and radiosensitive combined immunodeficiency.
Fanconi pancytopenia - Patients typically have short stature. Additional features include dysmorphic facial features, skin hyperpigmentation, café au lait spots, radial hypoplasia, and microcephaly. Neutropenia secondary to bone marrow failure occurs but T and B cell functions are preserved.
Dyskeratosis Congenita - The severe infant onset for of this disease (Hoyeraal-Hreidarsson syndrome) presents with enteropathy, IUGR, growth retardation, cerebellar hypoplasia, and combined immunodeficiency.
Kabuki syndrome - Patients develop postnatal growth deficiency. Additional features include characteristic facial features and hypogammaglobulinemia.
APECED - Growth hormone deficiency has been reported in a minority (8%) of patients. Kenny-Caffey syndrome - Patients are characterized by growth deficiency, hypoparathyroidism, cortical thickening of the long bones, and immunodeficiency (decreased T cell numbers and impaired neutrophil phagocytosis).
Down Syndrome
Down Syndrome - Patients typically develop growth deficiency. Specific antibody deficiency, T cell lymphopenia, impaired T cell function, and impaired phagocyte chemotaxis and oxidative burst have been reported in this disease.
Chromosome 4p (Wolf-Hirschhorn Syndrome) - Patients typically have growth deficiency. Additional features include a Greek warrior helmet facies, microcephaly, coloboma, and mental retardation. Patients can develop CVID and specific antibody deficiency (T cell immunity is normal).
P14 deficiency - Patients can have short stature and coarse facial features. This disease is also characterized by severe neutropenia, impaired CD8 T cell cytotoxicity, humoral immunodeficiency, and a moderate bleeding disorder.
STAT3 gain of function mutation - Patients present with short stature, recurrent infections and multiorgan autoimmune disease including autoimmune cytopenia, type 1 diabetes , enteropathy, and lymphocytic interstitial lung disease. Patients may have hypogammaglobulinemia with reduced switched memory B cells as well as T and NK cell lymphocytopenia.