Failure to thrive, and Pneumonia

Diseases related with Failure to thrive and Pneumonia

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

Top matches:

Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB (OMIM ) expression. Acquired PAP (OMIM ), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 (OMIM ) (Martinez-Moczygemba et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 (OMIM ).

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 Is also known as pulmonary alveolar proteinosis, congenital, 4|csf2ra deficiency|pap due to csf2ra deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Respiratory insufficiency
  • Respiratory distress
  • Pneumonia


SOURCES: MESH OMIM MENDELIAN

More info about SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4

Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY Is also known as zeta-associated-protein 70 deficiency|selective t-cell defect|stcd

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY

Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS Is also known as caspase 8 deficiency syndrome|autoimmune lymphoproliferative syndrome, type iib|alps2b|ceds|alps with recurrent viral infections

Related symptoms:

  • Short stature
  • Failure to thrive
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS

Other less relevant matches:

Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY Is also known as t-b+ scid due to jak3 deficiency|scid, t cell-negative, b cell-positive, nk cell-negative

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Pneumonia
  • Meningitis
  • Recurrent upper respiratory tract infections


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY

Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.

HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY Is also known as hed-id|anhidrotic ectodermal dysplasia with immunodeficiency|eda-id

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY

Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008). Genetic Heterogeneity of Lectin Complement Activation Pathway DefectsSee also LCAPD2 (OMIM ), caused by variation in the MASP2 gene (OMIM ) on chromosome 1p36, and LCAPD3 (OMIM ), caused by variation in the FCN3 gene (OMIM ) on chromosome 1p36.

MANNOSE-BINDING LECTIN DEFICIENCY; MBLD Is also known as mbl deficiency|mbl2 deficiency|lcapd1|mannose-binding protein deficiency|mbp deficiency|lectin complement activation pathway, defect in, 1

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: MESH OMIM MENDELIAN

More info about MANNOSE-BINDING LECTIN DEFICIENCY; MBLD

Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY Is also known as scid due to ikk2 deficiency

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Pneumonia
  • Respiratory tract infection


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY

HIGM3, first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM.For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3 Is also known as hyper-igm syndrome 3

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Respiratory distress
  • Immunodeficiency
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3

Immunodeficiency-56 is an autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens (summary by Kotlarz et al., 2013).

COMBINED IMMUNODEFICIENCY DUE TO IL21R DEFICIENCY Is also known as il21r immunodeficiency

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Abnormality of the liver


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO IL21R DEFICIENCY

PLTEID is an autosomal recessive immune-mediated inflammatory disease with highly variable manifestations. More severely affected individuals have recurrent infections, vasculitis, and thrombocytopenia, whereas other patients have mild vasculitis and normal numbers of small platelets without severe infections. Laboratory studies show platelets with abnormal shape, decreased dense granules, and impaired spreading ability, as well as immune dysregulation with increased eosinophils, B cells, IgA and IgE, and autoantibodies (summary by Kahr et al., 2017).

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID

Top 5 symptoms//phenotypes associated to Failure to thrive and Pneumonia

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Chronic diarrhea Uncommon - Between 30% and 50% cases
Meningitis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Pneumonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Severe combined immunodeficiency

Rare Symptoms - Less than 30% cases

Bronchiectasis Recurrent skin infections Decreased antibody level in blood Asthma Lymphadenopathy Panhypogammaglobulinemia Combined immunodeficiency Splenomegaly Sepsis Recurrent bacterial infections Respiratory distress Respiratory tract infection Respiratory failure IgA deficiency Hepatomegaly Osteomyelitis Absence of lymph node germinal center IgE deficiency Agammaglobulinemia Impaired Ig class switch recombination Increased IgM level IgG deficiency Hypoplasia of the thymus Neutropenia Growth delay Recurrent infection of the gastrointestinal tract Impaired memory B cell generation Eosinophilia Decreased mean platelet volume Lymphocytosis Abnormal thrombocyte morphology Immune dysregulation Antinuclear antibody positivity Elevated erythrocyte sedimentation rate Inflammation of the large intestine Vasculitis Abnormality of the liver Skin rash Thrombocytopenia Chronic hepatitis due to cryptosporidium infection Cholangitis Recurrent sinusitis Hepatic failure Cirrhosis Cardiac arrest Intractable diarrhea Disseminated cryptosporidium infection Recurrent sinopulmonary infections Respiratory insufficiency Tachycardia Abnormal lung morphology Tachypnea Restrictive ventilatory defect Hypoxemia Foam cells Alveolar proteinosis Crackles Eczematoid dermatitis Recurrent candida infections Short stature Eczema Decreased T cell activation Recurrent meningococcal disease Defective B cell activation Recurrent upper respiratory tract infections Intestinal obstruction Abnormality of the lymph nodes Cutaneous anergy Ectodermal dysplasia Pulmonary insufficiency Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Dysgammaglobulinemia Neoplasm Otitis media Recurrent Klebsiella infections Susceptibility to herpesvirus Cervical lymphadenopathy


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