Immunodeficiency, and Colitis

Diseases related with Immunodeficiency and Colitis

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Colitis that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Immunodeficiency
  • Diabetes mellitus
  • Decreased antibody level in blood
  • Psoriasiform dermatitis
  • Colitis


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14

Autosomal recessive cytochrome b-positive chronic granulomatous disease (CGD) type III is a immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation resulting from loss of phagocyte superoxide production (summary by Matute et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see the well-established X-linked recessive cytochrome b-negative form (CGD ).

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY Is also known as granulomatous disease, chronic, due to ncf4 deficiency|cgd, autosomal recessive cytochrome b-positive, type iii|x-linked msmd due to cybb deficiency

Related symptoms:

  • Fever
  • Diarrhea
  • Immunodeficiency
  • Skin rash
  • Eczema


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY

Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Other less relevant matches:

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is a mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.

AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION Is also known as aplaid

Related symptoms:

  • Cataract
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOINFLAMMATION-PLCG2-ASSOCIATED ANTIBODY DEFICIENCY-IMMUNE DYSREGULATION

Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2 Is also known as bls|major histocompatibility complex class ii expression deficiency|bare lymphocyte syndrome type 2|bls, type ii|hla class 2-negative severe combined immunodeficiency|bare lymphocyte syndrome|scid, hla class ii-negative|hla class 2-negative scid|mhc class

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Malabsorption
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2

Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.

IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY Is also known as fcn3 deficiency|lectin complement activation pathway, defect in, 3|lcapd3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Ventricular septal defect
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY

XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA ), and general dysregulation of the immune pathway, such as increased levels of IL18 (OMIM ). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by Yang et al., 2012; review by Latour and Aguilar, 2015).Latour and Aguilar (2015) provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology.For a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 Is also known as xiap deficiency

Related symptoms:

  • Anemia
  • Fever
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2

Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). Genetic Heterogeneity of Chronic Granulomatous DiseaseChronic granulomatous disease can be caused by mutations in any 1 of 5 genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also autosomal recessive cytochrome b-negative CGD (OMIM ), caused by mutation in the CYBA gene (OMIM ); autosomal recessive cytochrome b-positive CGD type I (OMIM ), caused by mutation in the NCF1 gene (OMIM ); autosomal recessive cytochrome b-positive CGD II (OMIM ), caused by mutation in the NCF2 gene (OMIM ); and autosomal recessive cytochrome b-positive CGD type III (OMIM ), caused by mutation in the NCF4 gene (OMIM ).A similar syndrome, termed neutrophil immunodeficiency syndrome (OMIM ), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (OMIM ).

GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX Is also known as cytochrome b-negative granulomatous disease, chronic, x-linked|cgd|chronic granulomatous disease, x-linked

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX

Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Top 5 symptoms//phenotypes associated to Immunodeficiency and Colitis

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Decreased antibody level in blood Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Recurrent skin infections Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Colitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Hepatosplenomegaly Diarrhea Thrombocytopenia

Rare Symptoms - Less than 30% cases

Recurrent lower respiratory tract infections Immune dysregulation Enterocolitis Interstitial pneumonitis Arthralgia Neutropenia Erythema Pulmonary fibrosis Inflammatory abnormality of the skin Lymphadenopathy Microcephaly Hepatitis Lymphopenia Diabetes mellitus Splenomegaly Recurrent respiratory infections Respiratory tract infection Short stature Villous atrophy Cellulitis Fever Failure to thrive Intrauterine growth retardation Recurrent bacterial infections Recurrent sinopulmonary infections Small for gestational age Eczema Hepatomegaly Abnormality of the dentition Interstitial pulmonary abnormality Abnormal intestine morphology Oral leukoplakia Esophageal stricture Leukopenia Esophageal stenosis Carcinoma Muscular dystrophy Type I diabetes mellitus Sepsis Celiac disease Nail dysplasia Bone marrow hypocellularity Scleroderma Autoimmune hemolytic anemia Recurrent pneumonia Autoimmune thrombocytopenia Atopic dermatitis Abnormality of skin pigmentation Carious teeth Nail dystrophy Postnatal growth retardation Cerebellar hypoplasia Depressivity Cerebellar atrophy Recurrent ear infections Global developmental delay Aspiration Intestinal obstruction Glomerulonephritis Autoimmunity Pain Deficiency or absence of cytochrome b(-245) Recurrent Burkholderia cepacia infections Negative nitroblue tetrazolium reduction test Absence of bactericidal oxidative respiratory burst in phagocytes Recurrent E. coli infections Recurrent Serratia marcescens infections Bladder carcinoma Recurrent Klebsiella infections Recurrent Aspergillus infections Decreased activity of NADPH oxidase Recurrent Staphylococcus aureus infections Lymphadenitis Arthritis Leukemia Hypothyroidism Granulomatosis Abnormal lung morphology Osteomyelitis Increased antibody level in blood Pulmonary infiltrates Peritonitis Hemolytic anemia Eczematoid dermatitis Discoid lupus rash Delayed puberty Recurrent bacterial skin infections Rectal abscess Chorioretinitis Liver abscess Dysgammaglobulinemia Hypofibrinogenemia Recurrent abscess formation Erythema nodosum Chronic hepatitis Brittle hair Microcytic anemia Woolly hair Trichorrhexis nodosa Hypochromic microcytic anemia Bloody diarrhea Intractable diarrhea Wide nose Pili canaliculi Uncombable hair Decreased serum iron Cataract Abnormal blistering of the skin IgA deficiency Chronic diarrhea Cirrhosis Ulcerative colitis Perioral eczema Psoriasiform dermatitis Skin rash Sinusitis Recurrent sinusitis Recurrent aphthous stomatitis Low-grade fever Perianal rash Sparse hair Hypertelorism Abnormal facial shape Depressed nasal bridge Wide nasal bridge Prominent forehead Abnormality of the liver Corneal erosion IgM deficiency Folliculitis Pancytopenia Nephropathy Nephrotic syndrome Verrucae Membranous nephropathy Irritability Lymphoma Hypertriglyceridemia Intellectual disability Acne Inflammation of the large intestine Increased serum ferritin Abnormality of the gastrointestinal tract Aplastic anemia Hemophagocytosis Ventricular septal defect Recurrent protozoan infections Bronchiolitis Chronic mucocutaneous candidiasis Malabsorption Recurrent urinary tract infections Recurrent upper respiratory tract infections Encephalitis Combined immunodeficiency Agammaglobulinemia Recurrent viral infections Chronic lymphocytic meningitis Cholangitis Recurrent fungal infections Protracted diarrhea Panhypogammaglobulinemia Cutaneous anergy Viral hepatitis Primary hypothyroidism


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